Full data view for gene CHEK2

The variants shown are described using the transcript reference sequence.

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Effect: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.

Exon: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.

DNA change (cDNA): Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.

Protein: Description of variant at protein level (following HGVS recommendations).

p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced

Zygosity: Homozygous or Heterozygous
All options:

Homo
Hetero
Not specified
Unknown
Not available

Co_ocurrence: If the variant is present in co-ocurrence with a mutation, please select the name of the mutated gene. If not, please select "no".
All options:

no
N/A
BRCA1
BRCA2
CHEK2
FANCC
MLH1
MSH2
MSH6
MUTYH
PALB2
PMS2
PTEN
APC
TP53
STK11
TSC1
RET
VHL
PALB2
NBN
CDKN2A
LZTR1
ATM
ERCC5
NF1
SDHB
BARD1
NTHL1
FANCC
BLM
BRIP1
RAD51C
GJB2
G6PC
SMN1
BRIP1
CDKN1B
FANCD2
MLH1, MUTYH
EPCAM
WRN
FANCM
DIS3L2
RAD51C

RNA change: Description of variant at RNA level (following HGVS recommendations).

r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription

Review status: prueba

Allele: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.

DNA change (genomic) (hg38): Description of variant at DNA level, based on the genomic DNA reference sequence (following HGVS recommendations).

g.12345678C>T
g.12345678_12345890del
g.12345678_12345890dup

Reference: Reference to publication describing the variant, including links to OMIM (when available), PubMed or or other source, e.g. "den Dunnen ASHG2003 P2346".

DB-ID: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.

dbSNP ID: The dbSNP ID.

Variant remarks: Remarks regarding the variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.

Template: Template(s) used to detect the sequence variant; DNA = genomic DNA, RNA = RNA (cDNA).
All options:

DNA
RNA = RNA (cDNA)
Protein
? = unknown

Technique: Technique(s) used to identify the sequence variant.
All options:

? = Unknown
SEQ-NG = Next-Generation Sequencing
SEQ = SEQuencing
MLPA = Multiplex Ligation-dependent Probe Amplification
SEQ-NG-H = Next-Generation Sequencing - Helicos
SEQ-NG-I = Next-Generation Sequencing - Illumina/Solexa
SEQ-NG-R = Next-Generation Sequencing - Roche/454
SEQ-NG-S = Next-Generation Sequencing - SOLiD
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
CNV
CSCE = Conformation Sensitive Capillary Electrophoresis
DECoN = Detection of Exon Copy Number variants
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
ddF = dideoxy Fingerprinting
DSCA = Double-Strand DNA Conformation Analysis
EMC = Enzymatic Mismatch Cleavage
HD = HeteroDuplex analysis
MCA = high-resolution Melting Curve Analysis (hrMCA)
IHC = Immuno-Histo-Chemistry
MAPH = Multiplex Amplifiable Probe Hybridisation
Northern = Northern blotting
PCR = Polymerase Chain Reaction
PCRdig = PCR + restriction enzyme digestion
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRq = PCR, quantitative
PAGE = Poly-Acrylamide Gel-Electrophoresis
PTT = Protein Truncation Test
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
RT-PCR = Reverse Transcription and PCR
SBE = Single Base Extension
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = SSCA, fluorescent (SSCP)
Southern = Southern blotting
TaqMan = TaqMan assay
Western = Western Blotting
in-house algorithm for CNV
z-score-CNV = z-score based algorithm for CNV detection in targeted NGS

Date of test: Date in which the results of the test were informed to the pacient

Lab: Name of the Laboratory that performed the screening.
All options:

3 billion
ARGENETICS
ARGENOMICS - Fundacion Investigar
Bilac - Laboratorio De Alta Complejidad
Biocodices S.A.
Biogenotec
Biogenomic
BIOMAKERS Molecular Pathology & Research
Bionet
Centro de Diagnostico Molecular (CDM)
Centro de Educación Médica e Investigaciones Clínicas (CEMIC)
Centro de Estudios Geneticos (CEG)
Centro de Investigaciones Endocrinologicas “Dr. Cesar Bergada” (CEDIE)
Centro Nacional de Genetica Medica "Dr. Eduardo E. Castilla" (CENAGEM)
Centro Privado Internacional de Medicina Personalizada - CEPIMP Genomics
CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS
CITOGEN.LAB
Clínica Universitaria Reina Fabiola
Dasa Genómica - Genia
Diagnus Lab
Domeq&Lafage
Fundacion BIOGEN
Fundación para el Progreso de la Medicina
FUNDAGEN S.A.
Gammalab - Grupo Gamma S.A.
GENDA
Genesia - Progenitest
Genologica laboratorio de análisis genéticos
GENOS
Grupo de investigacion en Genetica Aplicada (GIGA)
Hospital Alemán
Hospital de Alta Complejidad El Calafate - SAMIC
Hospital de Gastroenterología Dr. Carlos Bonorino Udaondo
Hospital Italiano de Buenos Aires
Hospital Privado Centro Médico de Córdoba
Hospital Universitario Austral
IACA Laboratorios
IBC Laboratorios
Instituto Alexander Fleming
Laboratorio Barros
Laboratorio de Analisis Clinicos Saguir Correa
Laboratorio de Biologia Celular y Molecular IHEM-CONICET CCT Mendoza
Laboratorio de Medicina Genomica - Facultad de Medicina - UNNE
Laboratorio Central
Laboratorio Dr. Rapela
Laboratorio Dra. Marta Cortelezzi
Laboratorio Fares Taie
Laboratorio Flores
Laboratorio Hidalgo S.A.
Laboratorio High Medic Group S.A.
Laboratorio Integral SRL
Laboratorio Maipu
Laboratorio Motter
Laboratorio NANNI
Laboratorio PampaGEN
Laboratorio Primagen
Laboratorio Tucumán
Laboratorios Turner
Labsis
LACE Laboratorios
LEB (Laboratorio de Especialidades Bioquimicas)
MANLAB
MEDgenomica
PRICAI-Primer Centro Argentino de Inmunogenética-Fundación Favaloro
Sanatorio Allende
Stamboulian Laboratorio
STEM
TRILAB
VZ Laboratorios
Zoigen
AMBRY GENETICS
Baylor Genetics
Blueprint Genetics
CENTOGENE
COLOR
GENE ONE
Health in code
Iden Gene
IMEGEN
INVITAE
Laboratorio ATGen (E)
Laboratorio ATGen
MACROGEN
Myriad Genetics
SENTIS
Sistemas Genómicos
------
Color
Genda
Genda/Color
Genesia
Genesia/Invitae
Genia/Invitae
Genia/Color
Genia
Genos
Genos/Color
Hospital Privado Centro Médico de Córdoba
Hospital Privado Centro médico de Córdoba/IACA
Héritas
IACA
Invitae
AbaCid
Ambry Genetics
Alexander Fleming
Alexander Fleming/Baylor College
Alexander Fleming/Genesia-INVITAE
Argenomics
Baylor Genetics
BIOGEN
Biogenotec
BIOMAKERS Molecular Pathology & Research
BIONET
Blueprint Genetics
CEDIE
CEG
CEMIC
Centro de diagnóstico molecular
CEPIMP Genomics
CeNaGeM
Centogene
CIBIC
CIBIC/Héritas
Ciscato&Sharovsky
Clinica Universitaria Reina Fabiola
DIAGNUS LAB
Domeq&Lafage
Dr. Rapela
Fares Taie
FARESTAIE/Héritas
FAVALORO-PRICAI
Fundación para el Progreso de la Medicina
Fundación para el Progreso de la Medicina/CIBIC/Héritas
Fundagen
Gammalab
GeneDx
GIGA
Health in code
Hidalgo
High Medic Group
Hospital Alemán
Hospital de Gastroenterologia
Sanatorio Allende
MEDgenomica
LACE
HEMA
Centro médico de Córdoba
DASA-INVITAE
Bioscreen Rosario
x
Myriad
Cibic
Turner
Stamboulian
IdenGene
Reference Laboratory Genetics
Macrogen
Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
IHEM-CONICET CCT Mendoza
Labgenetics (deriv. Pricai)
Invitae (deriv. Genesia)
Genia (deriv. Hospital Italiano)
Invitae (deriv. Genia)
Color (deriv. Genos)
Centogene (deriv. Progenitest)
Gammalab (deriv. Hospital Universitario Austral)
Color (deriv. Genda)
Color (deriv. Genesia)
Invitae (deriv. Genda)
Laboratorio Integral S.R.L.
Trinidad Medical Center
LABORATORIO DRA. CORTELEZZI MARTA
Dasa Genómica

Remarks: Remarks

Type of test: Type of test
All options:

Known familial mutation
Multigenetic panel
Specific pathology
Ashkenazi panel
Germline variant found in somatic testing
Whole exome
-
Specific pathology panel

Ethnic origin: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).

Reference: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.

Remarks: Remarks about the individual.

Cuadro familiar: Principales canceres que motivan la sospecha clinica

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

62 entries on 1 page. Showing entries 1 - 62.

Legend

How to query

Effect	Exon	DNA change (cDNA)	Protein	Zygosity	Co_ocurrence	RNA change	Review status	Allele	DNA change (genomic) (hg38)	Reference	DB-ID	dbSNP ID	Variant remarks	Template	Technique	Date of test	Lab	Remarks	Type of test	Disease	Ethnic origin	Reference	Remarks	Cuadro familiar	Panel size	Owner
?/?	10-12	Deletion	p.?	Hetero	no	r.?	-	Unknown	g.(?_29091095)_(29092994_?)del	-	CHEK2_000077	-	-	DNA	SEQ-NG	26-aug-2022	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	Breast and Ovarian Cancer Panel (21 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53.	Multigenetic panel	Breast cancer, Ovarian cancer	Italian/Hispanic	-	-	Breast cancer, Ovarian cancer	1	Ivana Romero-Sanatorio Parque
?/?	10-12	Deletion	p.?	Hetero	no	r.?	-	Unknown	g.(?_29091095)_(29092994_?)del	-	CHEK2_000077	-	-	DNA	SEQ-NG	17-jan-2023	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	-	Multigenetic panel	N/A	Hispanic/Italian	-	-	CHEK2-associated syndrome	1	Ivana Romero-Sanatorio Parque
?/?	10-12	deletion	p.?	Hetero	no	r.?	-	Unknown	g.?	-	CHEK2_000062	-	-	DNA	MLPA	18-nov-2022	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	-	Multigenetic panel	N/A	Italian/Hispanic	-	-	Hereditary Breast and Ovarian cancer syndrome, BRCA1 and-or BRCA2 genes	1	Ivana Romero-Sanatorio Parque
?/?	9-10	deletion exon 9-10	p.?	Hetero	no	r.?	-	Unknown	g.?	-	CHEK2_000062	-	-	DNA	SEQ-NG	4-Jun-2025	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	ACD AIP AKT1 APC ATM BAP1 BARD1 BLM BMPR1A BRCA1 BRCA2 BRIP1 CASR CDC73 CDH1 CDK4 CDKN1B CDKN2A CHEK2 DICER1 EPCAM FANCA FANCC FANCL FANCM FH FLCN GALNT12 GREM1 HOXB13 KIT LZTR1 MAX MEN1 MET MITF MLH1 MSH2 MSH3 MSH6 MUTYH NBN NF1 NF2 NTHL1 PALB2 PIK3CA PMS2 POLD1 POLE POT1 PTEN RAD50 RAD51B RAD51C RAD51D RB1 RET RINT1 SDHA SDHAF2 SDHB SDHC SDHD SMAD4 SMARCA4 SMARCB1 SPRED1 STK11 TERF2IP TERT TMEM127 TP53 TSC1 TSC2 VHL XRCC2	Multigenetic panel	Breast cancer	German, Paraguayan, Spanish	-	-	Breast cancer, Ovarian cancer	1	Guillermo Alberto-Instituto Fleming
+/+	3-4	deletions of exons 3-4	p.?	Hetero	N/A	r.?	chr22∶29120863-29121366 ((hg19/GRCh37))	Unknown	g.?	-	CHEK2_000062	-	-	DNA	CNV	18-oct-2023	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2.	Multigenetic panel	Breast cancer	Italian	-	-	Breast cancer	1	Guillermo Alberto-Instituto Fleming
?/?	2	c.34T>A	p.Ser12Thr	Hetero	no	r.(34u>a)	-	Unknown	g.28734688A>T	-	CHEK2_000056	rs876661027	-	DNA	SEQ-NG, CNV	12-05-23	HEMA	Hereditary Breast/Ovarian Cancer Panel with copy number variation (CNV) analysis (18 genes) ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53	Multigenetic panel	Breast cancer	Spanish - Italian/Brazilian	-	-	Breast cancer, Ovarian cancer	1	Laura Vargas Roig-IMBECU
+/+	2	c.106C>T	p.Gln36*	Hetero	no	r.?	-	Unknown	g.28734616G>A	-	chr22_000001	-	-	DNA	SEQ-NG	12-Mar-2025	Genda	APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53	Multigenetic panel	Breast cancer	Spanish/chilean	-	-	Breast cancer, Ovarian cancer	1	Agostina Tardivo-Instituto Fleming
?/?	2	c.134C>G	p.Thr45Arg	Hetero	no	r.?	-	Unknown	g.28734588G>C	-	chr22_000002	-	-	DNA	SEQ-NG	16-Jul-2025	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	APC ATM BARD1 BLM BMPR1A BRCA1 BRCA2 BRIP1 CDH1 CDKN2A CHEK2 DICER1 EPCAM FANCC FANCM GALNT12 GREM1 HOXB13 MLH1 MSH2 MSH3 MSH6 MUTYH NBN NF1 NTHL1 PALB2 PMS2 POLD1 POLE PTEN RAD50 RAD51C RAD51D RINT1 SMAD4 SMARCA4 STK11 TP53 XRCC2	Multigenetic panel	Breast cancer	Spanish, Polish	-	-	Breast cancer, Ovarian cancer	1	Guillermo Alberto-Instituto Fleming
?/?	2	c.170C>G	p.(Ser57Cys)	Hetero	no	r.(170c>g)	-	Unknown	g.28734552G>C	-	CHEK2_000059	rs730881695	-	DNA	SEQ-NG	8-nov-2023	GENDA	Hereditary Cancer Genetic Test (29 genes) BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2, EPCAM, APC, MUTYH, MITF, BAP1, CDKN2A, CDK4, TP53, PTEN, STK11, CDH1, BMPR1A, SMAD4, GREM1, POLD1, POLE, PALB2, CHEK2, ATM, BARD1, BRIP1, RAD51C, RAD51D.	Multigenetic panel	Breast cancer	Argentinean/Argentinean	-	-	Breast cancer	1	Yolanda Isabel Medina - Hospital Juan D. Perón
?/?	2	c.190G>A	(p.Glu64Lys)	Hetero	no	r.?	-	Unknown	g.28734532C>T	-	CHEK2_000028	-	-	DNA	SEQ-NG	21-feb-2025	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	ABRAXAS1, ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTRC, DDB2, DICER1, DIS3L2, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GALNT12, GATA2, GPC3, GREM1, HOXB13, KIF1B, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RB1, RET, RHBDF2, RINT1, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPINK1, SPRED1, STK11, SUFU, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WT1, XPA, XPC, XRCC2.	Multigenetic panel	Bilateral Breast cancer	Latin	-	-	Breast cancer, Ovarian cancer	1	Andres Rodriguez-Instituto Fleming
?/?	2	c.246_260del	p.(Asp82_Glu86del)	Hetero	N/A	r.(246_260del)	-	Unknown	g.28734485_28734499del	-	CHEK2_000051	rs587780181	-	DNA	SEQ-NG	04-11-2022	Dasa Genómica - Genia	Hereditary cancer panel (144 genes)	Multigenetic panel	Kidney cancer	Spanish - native argentinian/Italian	-	-	Breast cancer, Kidney cancer	1	Pablo Kalfayan-Hospital Italiano
?/?	2	c.246_260del	p.(Asp82_Glu86del)	Hetero	no	r.(246_260del)	-	Unknown	g.28734485_28734499del	-	CHEK2_000051	rs587780181	-	DNA	SEQ-NG, CNV	28-07-22	LACE Laboratorios	Extended hereditary cancer panel (86 genes) AIP, ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A (p14ARF), CDKN2A (p16INK4a), CEBPA, CHEK2, CTNNA1, DICER1, DIS3L2, EGFR, EPCAM, FANCM, FANCC, FH, FLCN, GATA2, GPC3, GREM1, HOXB13, HRAS, KIT, MAX, MEN1, MET, MITF, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PHOX2B, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERC, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1 .",	Multigenetic panel	Breast cancer	Italian - Spanish	-	-	Breast cancer	1	Cecilia Montes-IMGO
?/?	2	c.246_260del	(p.Asp82_Glu86del)	Hetero	no	r.?	-	Unknown	g.28734470TTCTTGGTCCTCAGG[1]	-	CHEK2_000051	rs587780181	-	DNA	SEQ-NG, CNV	25-mar-2024	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	Hereditary Cancer panel APC, ATM, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FANCM, GALNT12, GREM1, HOXB13, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RINT1, SMAD4, SMARCA4, STK11, TP53, XRCC2.	Multigenetic panel	Breast cancer	Spanish - Italian	-	-	Breast cancer	1	Guillermo Alberto-Instituto Fleming
?/?	2	c.246_260del	p.(Asp82_Glu86del)	Hetero	CHEK2	r.?	-	Unknown	g.28734470TTCTTGGTCCTCAGG[1]	-	CHEK2_000051	-	-	DNA	SEQ-NG	12-jun-2024	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2.	Multigenetic panel	Breast cancer	Spanish/Unknown	-	-	Breast cancer	1	Marcela Lopez-CEMAFE
+?/+?	3	c.342G>A	p.Trp114Ter	Hetero	no	r.?	-	Unknown	g.28734430G>A	-	chr22_000003	-	-	DNA	SEQ-NG	7-Jul-2025	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	PMS2 APC POLD1 ATM BARD1 BLM BMPR1A BRCA1 BRCA2 BRIP1 CDH1 CDKN2A CHEK2 DICER1 EPCAM FANCC FANCM GALNT12 GREM1 HOXB13 MLH1 MSH2 MSH3 MSH6 MUTYH NBN NF1 NTHL1 PALB2 POLE PTEN RAD50 RAD51C RAD51D RINT1 SMAD4 SMARCA4 STK11 TP53 XRCC2	Multigenetic panel	Breast cancer	Argentinean, Spanish, Italian	-	-	Breast cancer, Ovarian cancer	1	Guillermo Alberto-Instituto Fleming
?/?	3	c.442A>G	p.(Arg148Gly)	Hetero	no	r.?	-	Unknown	g.28725245T>C	-	CHEK2_000067	rs876660482	-	DNA	SEQ-NG, CNV	22-may-2024	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	HEREDITARY CANCER SYNDROME PANEL (41 genes) APC, ATM, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FANCM, GALNT12, GREM1, HOXB13, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RINT1, SMAD4, SMARCA4, STK11, TP53, XRCC2.	Multigenetic panel	Breast cancer	Peruvian	-	-	Breast cancer, Ovarian cancer	1	Guillermo Alberto-Instituto Fleming
+/+	3i	c.444+1G>A	p.?	Hetero	N/A	r.?	-	Unknown	g.28725242C>T	-	CHEK2_000042	rs121908698	-	DNA	SEQ-NG, CNV	7-mar-2024	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2.	Multigenetic panel	Breast cancer	Bulgarian - Argentinean	-	-	Breast cancer	1	Guillermo Alberto-Instituto Fleming
?/?	3i	c.444+3A>G	p?	Hetero	no	r.?	-	Unknown	g.28725240T>C	-	CHEK2_000086	-	-	DNA	SEQ-NG	20-Jan-2025, 01-sep-2025	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS, Dasa Genómica - Genia	APC, ATM, BLM, BMPR1A, BRCA1, CDH1, CHEK2, EPCAM, GALNT12, GREM1, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53., APC, ATM, AXIN2, BLM, BMPR1A, CHEK2, EPCAM, FLCN, GALNT12, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, PMS2CL, POLD1, POLE, PTEN, SMAD4, STK11, TP53	Multigenetic panel	Colorectal cancer, Polyposis	Latin-Spanish	-	-	Colon cancer	1	Andres Rodriguez-Instituto Fleming
+/+	4	c.470T>C	(p.Ile157Thr)	Hetero	N/A	r.(470u>c)	-	Unknown	g.29121087A>G	-	CHEK2_000054	rs17879961	-	DNA	SEQ-NG, CNV	02-02-22	LACE Laboratorios	Hereditary Cancer Panel (30 genes) BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2, EPCAM, APC, MUTYH, MITF, BAP1, CDKN2A, CDK4, TP53, PTEN, STK11, CDH1, BMPR1A, SMAD4, GREM1, POLD1, POLE, PALB2, CHEK2, ATM, NBN, BARD1, BRIP1, RAD51C, RAD51D.	Multigenetic panel	Breast cancer	Italian/German - Argentinean	-	-	Breast cancer	1	Cecilia Montes-IMGO
?/?	4	c.470T>C	p.Ile157Thr	Hetero	BRCA2;MUTYH	r.(470u>c)	-	Unknown	g.28725099A>G	-	CHEK2_000045	rs17879961	-	DNA	SEQ-NG, CNV	26-jun-2023	HEMA	Panel ( 29 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH,PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SAMD4, STK11, TP53	Multigenetic panel	Breast cancer	Italian - French	-	-	Breast cancer, Ovarian cancer	1	Laura Vargas Roig-IMBECU
+/+	4	c.470T>C	p.(Ile157Thr)	Hetero	BRCA1	r.?	-	Unknown	g.28725099A>G	-	CHEK2_000045	rs17879961	-	DNA	SEQ-NG	jan-2024	Laboratorio de Medicina Genomica - Facultad de Medicina - UNNE	Hereditary Cancer Panel (29 genes) BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2, EPCAM, APC, MUTYH, MITF, BAP1, CDKN2A, CDK4, TP53, PTEN, STK11, CDH1, BMPR1A, SMAD4, GREM1, POLD1, POLE, PALB2, CHEK2, ATM, BARD1, BRIP1, RAD51C, RAD51D	Multigenetic panel	Breast cancer	Italian - Argentinean - Spanish	-	-	Breast cancer	1	Guillermo Alberto-Instituto Fleming
+/+	4	c.470T>C	p.(Ile157Thr)	Hetero	N/A	r.?	LOW PENETRANCE	Unknown	g.28725099A>G	-	CHEK2_000045	rs17879961	-	DNA	SEQ-NG	30-mar-2022	GENDA, INVITAE	Invitae Multi-cancer panel (84 genes)	Multigenetic panel	Breast cancer	Spanish / Italian	-	-	Breast cancer	1	Jesica Ramirez-Hospital Central de Mendoza
+/+	4	c.470T>C	p.(Ile157Thr)	Hetero	N/A	r.?	LOW PENETRANCE. RISK FACTOR.	Unknown	g.28725099A>G	-	CHEK2_000045	rs17879961	-	DNA	SEQ-NG	20-feb-2024	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	HEREDITARY CANCER PANEL (78 GENES) ACD, AIP,AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A,CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1,MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE,POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4,SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2	Multigenetic panel	Bilateral Breast cancer, Thyroid cancer	Italian	-	-	Breast cancer, Ovarian cancer	1	Guillermo Alberto-Instituto Fleming
+/+	4	c.470T>C	p.(Ile157Thr)	Hetero	no	r.?	LOW PENETRANCE. RISK FACTOR.	Unknown	g.28725099A>G	-	CHEK2_000045	rs17879961	-	DNA	SEQ-NG	06-feb-2023	GENDA, INVITAE	AIP, ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A (p14ARF), CDKN2A (p16INK4a), CEBPA, CHEK2, CTNNA1, DICER1, DIS3L2, EGFR, EPCAM, FH, FLCN, GATA2, GPC3, GREM1, HOXB13, HRAS, KIT, MAX, MEN1, MET, MITF, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PHOX2B, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERC, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1.	Multigenetic panel	Breast cancer	Spanish/Italian	-	-	Breast cancer	1	Marcela Lopez - Instituto Donna
?/?	4	c.480A>G	(p.Ile160Met)	Hetero	no	r.?	-	Unknown	g.28725089T>C	-	CHEK2_000083	-	-	DNA	SEQ-NG	23-Jan-2025	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	APC, ATM, BLM, BMPR1A, BRCA1, CDH1, CHEK2, EPCAM, GALNT12, GREM1, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53.	Multigenetic panel	Oligopolyposis	Italian	-	-	Attenuated familial adenomatous polyposis	1	Luisina Bruno-Instituto Fleming
+?/+?	4	c.483_485del	p.(Glu161del)	Hetero	no	r.(483_485del)	-	Unknown	g.28725087_28725089del	-	CHEK2_000053	rs587782008	-	DNA	SEQ-NG	16-02-22	Diagnus Lab, COLOR	Hereditary Cancer Panel (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53	Multigenetic panel	Breast cancer	Italian / Italian	-	-	Breast cancer	1	Cecilia Montes-IMGO
+/+?	4	c.483_485del	p.Glu161del	Hetero	N/A	r.(483_485del)	-	Unknown	g.28725084TCT[1]	-	CHEK2_000053	rs587782008	-	DNA	SEQ	18-apr-22	Fundación para el Progreso de la Medicina	Sanger. Gene CHEK2. NM_007194.4:c.483_485del, NP_009125.1:p.Glu161del	Known familial mutation	N/A	Spanish - Italian	-	-	Breast cancer	1	Cecilia Montes-IMGO
?/?	4	c.497A>G	(p.Asn166Ser)	Hetero	no	r.?	-	Unknown	g.29121060T>C	-	CHEK2_000063	rs587782413	-	DNA	SEQ-NG	27-dec-2021	COLOR	Hereditary Cancer Genetic Test APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53	Multigenetic panel	Breast cancer	Spsnish - Spanish	-	-	Breast cancer	1	Lina Nuñez-Private Practice
?/?	4	c.506T>C	(p.Phe169Ser)	Hetero	no	r.?	-	Unknown	g.28725063A>G	-	CHEK2_000084	-	-	DNA	SEQ-NG	23-Jan-2025	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	Hereditary cancer panel (NGS) — Gene panel: ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2.	Multigenetic panel	N/A	Jew (Askenazi)	-	-	Breast cancer, Ovarian cancer	1	Luisina Bruno-Instituto Fleming
?/?	3	c.544C>A	p.Pro182Thr	Hetero	no	r.?	-	Unknown	g.28734228G>T	-	chr22_000004	-	-	DNA	SEQ-NG	16-Jun-2022	Genda	AIP, ALK, ANKRD26, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, BUB1B, CBL, CD70, CDC73, CDH1, CDK4, CDK6, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CTNNA1, CYLD, DDB2, DDX41, DICER1, DIS3L2, DKC1, EFL1, EGFR, ELANE, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ETV6, EXO1, EXT1, EXT2, EZH2, FAM111B, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GALNT12, GATA2, GPC3, GPR101, GREM1, HAVCR2, HNF1A, HOXB13, HRAS, IKZF1, KIF1B, KIT, KITLG, KRAS, LZTR1, MAP2K1, MAP2K2, MAX, MC1R, MEN1, MET, MITF, MLH1, MLH3, MRE11A, MSH2, MSH3, MSH6, MUTYH, MYCN, NBN, NF1, NF2, NRAS, NSD1, NSUN2, NTHL1, PALB2, PAX5, PDGFRA#, PHOX2B, PMS1#, PMS2, POLD1, POLE, POLH, POT1, PPM1D, PRF1, PRKAR1A, PTCH1, PTCH2, PTEN, PTPN11, RAD50, RAD51C, RAD51D, RAF1, RASA2, RB1, RECQL, RECQL4, REST, RET, RHBDF2, RIT1, RPS20, RRAS, RUNX1, SAMD9, SAMD9L, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD#, SHOC2, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SMO, SOS1, SOS2, SPRED1, SRP72, STK11, SUFU, TERC, TERT, TINF2, TMEM127, TP53, TRIP13, TSC1, TSC2, VHL, WRN*, WT1, XPA, XPC y XRCC2.	Multigenetic panel	Urothelial cancer	Spanish-Arabian / German	-	-	Urothelial carcinoma	1	Marcela Lopez-CEMAFE
+?/+?	4i	c.592+3A>T	p.?	Hetero	PALB2	r.?	-	Unknown	g.28724974T>A	-	CHEK2_000014	rs587782849	-	DNA	SEQ-NG, CNV	06-may-2024, 20-aug-2025	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	HEREDITARY CANCER SYNDROME (78 genes) ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2., APC, ATM, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FANCM, GALNT12, GREM1, HOXB13, MLH1, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RINT1, SMAD4, SMARCA4, STK11, TP53, XRCC2	Multigenetic panel	Breast cancer	Argentinean - Italian	-	-	Breast cancer, Ovarian cancer	1	Guillermo Alberto-Instituto Fleming
?/?	6	c.682A>T	p.(Ser228Cys)	Hetero	no	r.?	-	Unknown	chr22:29.115.384	-	chr22_000005	-	-	DNA	SEQ-NG	14-May-2025	GENOS	101 genes panel: ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CEBPA, CEP57, CHEK2, CTC1, CTNNA1, DDB2, DICER1, DKC1, EGFR, EGLN1, EPCAM, EXT1, EXT2, FAN1, FH, FLCN, GALNT12, GATA2, GPC3, GREM1, HOXB13, HRAS, KIF1B, KIT, LZTR1, MAX, MDH2, MEN1, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PMS1, PMS2, POLD1, POLE, POT1, PRF1, PRKAR1A, PTCH1, PTCH2, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, RHBDF2, RNF43, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, STK11, SUFU, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WRAP53, WT1, XRCC2	Multigenetic panel	Colorectal cancer	Spanish-Italian	-	-	Breast cancer, Colorectal cancer	1	Pablo Kalfayan-Hospital Italiano
?/?	6	c.688G>C	(p.Ala230Pro)	Hetero	no	r.?	-	Unknown	g.28712013C>G	-	CHEK2_000085	-	-	DNA	SEQ-NG	7-Jan-2025	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	Hereditary cancer panel (NGS) — Gene panel: ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2.	Multigenetic panel	Breast cancer, Primary hypothyroidism	Italian-Spanish	-	-	Breast cancer, Multiple endocrine neoplasia, Ovarian cancer	1	Luisina Bruno-Instituto Fleming
?/?	6	c.688G>T	p.(Ala230Ser)	Hetero	no	r.?	-	Unknown	g.28712013C>A	-	CHEK2_000080	-	-	DNA	SEQ-NG, CNV	06-nov-2024	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	APC, ATM, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FANCM, GALNT12, GREM1, HOXB13, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RINT1, SMAD4, SMARCA4, STK11, TP53, XRCC2.	Multigenetic panel	N/A	German-Italian-Argentinean	-	-	Breast cancer, Ovarian cancer	1	Guillermo Alberto-Instituto Fleming
?/?	6	c.715G>A	(p.Glu239Lys)	Hetero	no	r.?	-	Unknown	g.28711986C>T	-	CHEK2_000074	-	-	DNA	SEQ-NG, CNV	25-oct-2024	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2.	Multigenetic panel	Breast cancer	Paraguayan/Spanish	-	-	Breast cancer, Ovarian cancer	1	Guillermo Alberto-Instituto Fleming
?/?	6	c.740C>A	(p.Ala247Asp)	Hetero	no	r.(740c>a)	-	Unknown	g.29107949G>T	-	CHEK2_000057	rs1064795978	-	DNA	SEQ-NG	23-jun-2023	GENDA, COLOR	Hereditary Cancer Test (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53	Multigenetic panel	Breast cancer	Spanish/Italian - English	-	-	Breast cancer, Ovarian cancer	1	Laura Vargas Roig-IMBECU
+/+	7	c.793-1G>A	p.spl?	Hetero	N/A	r.spl?	-	Unknown	g.28710060C>T	-	CHEK2_000049	rs730881687	-	DNA	SEQ-NG	03-jan-2022	Genesia/Invitae	Panel Invitae Multi-Cancer (84 genes)	Multigenetic panel	Breast cancer	Italian- Italian/German	-	-	Breast cancer, Kidney cancer, Endometrial cancer	1	Lina Nuñez-Private Practice
?/?	7	c.831G>C	p.(Leu277Phe)	Hetero	no	r.?	-	Unknown	g.28710021C>G	-	CHEK2_000070	rs876659698	-	DNA	SEQ-NG, CNV	06-may-2024	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	HEREDITARY CANCER SYNDROME (78 genes) ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2.	Multigenetic panel	Lymphoma	Italian - Spanish	-	-	Breast cancer, Ovarian cancer	1	Guillermo Alberto-Instituto Fleming
?/?	7	c.842A>G	(p.Asn281Ser)	Hetero	no	r.?	-	Unknown	g.28710010T>C	-	CHEK2_000087	-	-	DNA	SEQ-NG	28-May-2025, 13-Aug-2025	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	Hereditary cancer panel (NGS) — Gene panel: APC, ATM, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FANCM, GALNT12, GREM1, HOXB13, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RINT1, SMAD4, SMARCA4, STK11, TP53, XRCC2, APC, ATM, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FANCM, GALNT12, GREM1, HOXB13, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RINT1, SMAD4, SMARCA4, STK11, TP53, XRCC2.	Multigenetic panel	Breast cancer, N/A	Spanish-Syrian	-	-	Breast cancer, Ovarian cancer	1	Guillermo Alberto-Instituto Fleming
+?/+?	7i	c.846+4_846+7del	p.?	Hetero	no	r.?	-	Unknown	g.28710002_28710005del	-	CHEK2_000061	rs764884641	-	DNA	SEQ-NG, CNV	17-jul-2023	HEMA	APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53	Multigenetic panel	Breast cancer	Italian - Franch/Spanish	-	-	Breast cancer	1	Laura Vargas Roig-IMBECU
?/?	8	c.888T>G	(p.Asp296Glu)	Hetero	no	r.?	-	Unknown	g.28703525A>C	-	CHEK2_000088	-	-	DNA	SEQ-NG	09-apr-2025	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCMT, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2.	Multigenetic panel	Colorectal cancer	Italian-Latin	-	-	Colorectal cancer	1	Andres Rodriguez-Instituto Fleming
?/?	6	c.904G>A	p.(Glu302Lys)	Hetero	no	r.?	-	Unknown	g.28711926C>T	-	CHEK2_000075	-	-	DNA	SEQ-NG	17-sep-2024	Dasa Genómica - Genia	AIP, ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CTC1, CTNNA1, CYLD, DDB2, DICER1, DIS3L2, DKC1, EGFR, EGLN1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, EZH2, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GAA, GALNT12, GATA2, GBA, GLA, GPC3, GREM1, HDAC2, HNF1A, HOXB13, HRAS, IDUA, KIF1B, KIT, KMT2D, LZTR1, MAX, MC1R, MDH2, MEN1, MERTK, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NHP2, NOP10, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PMS1, PMS2, PMS2CL, POLD1, POLE, POLH, POT1, PRF1, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RHBDF2, RUNX1, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERC, TERT, TINF2, TMEM127, TP53, TSC1, TSC2, TYR, VHL, WRAP53, WRN, WT1, XPA, XPC, XRCC2.	Multigenetic panel	N/A	Spanish/French	-	-	Breast cancer, Ovarian cancer	1	Guillermo Alberto-Instituto Fleming
?/?	9	c.911T>C	p.(Met304Thr)	Hetero	no	r.?	-	Unknown	g.28699935A>G	-	CHEK2_000071	rs587782033	-	DNA	SEQ-NG	01-jul-2024	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2.	Multigenetic panel	Breast cancer	Argentinean/Italian	-	-	Breast cancer, Ovarian cancer	1	Guillermo Alberto-Instituto Fleming
?/?	9	c.953G>A	p.(Arg318His)	Hetero	no	r.?	-	Unknown	g.28699893C>T	-	CHEK2_000081	-	-	DNA	SEQ-NG	21-nov-2023	Fundación para el Progreso de la Medicina	APC, ATM, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FANCM, GALNT12, GREM1, HOXB13, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RINT1, SMAD4, SMARCA4, STK11, TP53, XRCC2	Multigenetic panel	Breast cancer	Italian/Italian	-	-	Breast cancer	1	Cecilia Montes-IMGO
?/?	10	c.1076A>G	p.(Glu359Gly)	Hetero	no	r.?	-	Unknown	g.28696920T>C	-	CHEK2_000072	rs760449049	-	DNA	SEQ-NG	03-jul-2024	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2.	Multigenetic panel	Breast cancer	Jew (Sefaradi)	-	-	Breast cancer, Colon cancer, Kidney cancer, Melanoma, Ovarian cancer, Prostate cancer, Thyroid cancer	1	Guillermo Alberto-Instituto Fleming
?/?	10	c.1076A>G	(p.Glu359Gly)	Hetero	no	r.?	-	Unknown	g.28696920T>C	-	CHEK2_000072	-	-	DNA	SEQ-NG	15-Apr-2025, 20-Aug-2025	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	Hereditary cancer, multigene NGS panel — Gene panel: ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2, ACD AIP AKT1 APC ATM BAP1 BARD1 BLM BMPR1A BRCA1 BRCA2 BRIP1 CASR CDC73 CDH1 CDK4 CDKN1B CDKN2A CHEK2 DICER1 EPCAM FANCA FANCC FANCL FANCM FH FLCN GALNT12 GREM1 HOXB13 KIT LZTR1 MAX MEN1 MET MITF MLH1 MSH2 MSH3 MSH6 MUTYH NBN NF1 NF2 NTHL1 PALB2 PIK3CA PMS2 POLD1 POLE POT1 PTEN RAD50 RAD51B RAD51C RAD51D RB1 RET RINT1 SDHA SDHAF2 SDHB SDHC SDHD SMAD4 SMARCA4 SMARCB1 SPRED1 STK11 TERF2IP TERT TMEM127 TP53 TSC1 TSC2 VHL XRCC2	Multigenetic panel	Bladder cancer, Breast cancer, Colon cancer, Prostate cancer, Thyroid cancer	Jew (Sefaradi)	-	-	Breast cancer, Ovarian cancer	1	Guillermo Alberto-Instituto Fleming
+/+	11	c.1100del	p.(Thr367fs)	Hetero	N/A	r.?	-	Unknown	g.28695869del	-	CHEK2_000044	rs555607708	-	DNA	SEQ-NG, CNV	19-apr-2024	Dasa Genómica - Genia	Hereditary Cancer Panel (144 genes) AIP, ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CTC1, CTNNA1, CYLD, DDB2, DICER1, DIS3L2, DKC1, EGFR, EGLN1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, EZH2, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GAA, GALNT12, GATA2, GBA, GLA, GPC3, GREM1, HDAC2, HNF1A, HOXB13, HRAS, IDUA, KIF1B, KIT, KMT2D, LZTR1, MAX, MC1R, MDH2, MEN1, MERTK, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NHP2, NOP10, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PMS1, PMS2, PMS2CL, POLD1, POLE, POLH, POT1, PRF1, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RHBDF2, RUNX1, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERC, TERT, TINF2, TMEM127, TP53, TSC1, TSC2, TYR, VHL, WRAP53, WRN, WT1, XPA, XPC, XRCC2.	Multigenetic panel	Breast cancer	European	-	-	Breast cancer, Ovarian cancer	1	Guillermo Alberto-Instituto Fleming
+/+	11	c.1100del	(p.Thr367Metfs*15)	Hetero	no	r.?	-	Unknown	g.28695869del	-	CHEK2_000044	rs555607708	-	DNA	SEQ-NG, CNV	15-aug-2024	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2.	Multigenetic panel	Prostate cancer	Spanish	-	-	Breast cancer, Ovarian cancer, Prostate cancer	1	Guillermo Alberto-Instituto Fleming
+/+	11	c.1100del	(p.Thr367Metfs*15)	Hetero	no	r.?	-	Unknown	g.28695869del	-	CHEK2_000044	-	-	DNA	-	26-Oct-2024	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	CHEK2: c.1100del	Multigenetic panel	N/A	Spanish	-	-	CHEK2-associated syndrome	1	Guillermo Alberto-Instituto Fleming
+?/+?	11	c.1169A>C	p.(Tyr390Ser)	Hetero	no	r.?	-	Unknown	g.28695800T>G	-	CHEK2_000068	rs200928781	-	DNA	SEQ-NG	21-mar-2024	Genesia - Progenitest	Panel (17 genes) ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MLH1, MSH2, MSH6, NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53	Multigenetic panel	Breast cancer	Italian - Spanish	-	-	Breast cancer, Ovarian cancer	1	Guillermo Alberto-Instituto Fleming
?/?	12	c.1211A>G	p.(Tyr404Cys)	Hetero	no	r.?	-	Unknown	g.28695758T>C	-	CHEK2_000046	-	-	DNA	SEQ-NG	07-jun-2024	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2.	Multigenetic panel	Colon cancer	Spanish/Spanish	-	-	Colon cancer	1	Marcela Lopez-CEMAFE
+/+?	12	c.1283C>T	p.(Ser428Phe)	Hetero	N/A	r.?	-	Unknown	g.28695219G>A	-	CHEK2_000020	rs137853011	RISK FACTOR.	DNA	SEQ-NG	8-apr-2024	COLOR	Panel (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLE, POLD1, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53.	Multigenetic panel	N/A	jew (Ashkenazi)	-	-	Breast cancer, Ovarian cancer	1	Guillermo Alberto-Instituto Fleming
+?/+?	12	c.1283C>T	p.(Ser428Phe)	Hetero	no	r.?	RISK FACTOR	Unknown	g.28695219G>A	-	CHEK2_000020	-	-	DNA	SEQ	28-jun-2025	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	NM_007194.4:c.1283C>, T p.Ser428Phe) CHEK2	Known familial mutation	Breast cancer	Ashkenazi Jewish	-	-	Breast cancer, Ovarian cancer	1	Guillermo Alberto-Instituto Fleming
?/+?	12	c.1427C>T	p.(Thr476Met)	Hetero	no	r.?	-	Unknown	g.28694066G>A	-	CHEK2_000006	rs142763740	-	DNA	SEQ-NG	25-mar-2024	Dasa Genómica - Genia	Hereditary Cancer Panel (GeneOne) (144 genes) AIP, ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CTC1, CTNNA1, CYLD, DDB2, DICER1, DIS3L2, DKC1, EGFR, EGLN1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, EZH2, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GAA, GALNT12, GATA2, GBA, GLA, GPC3, GREM1, HDAC2, HNF1A, HOXB13, HRAS, IDUA, KIF1B, KIT, KMT2D, LZTR1, MAX, MC1R, MDH2, MEN1, MERTK, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NHP2, NOP10, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PMS1, PMS2, PMS2CL, POLD1, POLE, POLH, POT1, PRF1, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RHBDF2, RUNX1, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERC, TERT, TINF2, TMEM127, TP53, TSC1, TSC2, TYR, VHL, WRAP53, WRN, WT1, XPA, XPC, XRCC2.	Multigenetic panel	Breast cancer	Arabian/Italian	-	-	Breast cancer, Ovarian cancer	1	Guillermo Alberto-Instituto Fleming
?/+?	14	c.1427C>T	p.(Thr476Met)	Hetero	no	r.?	-	Unknown	g.28694066G>A	-	CHEK2_000006	rs142763740	-	DNA	SEQ-NG	13-sep-2023	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, RINT1, SMARCA4, STK11, TP53, XRCC2	Multigenetic panel	Breast cancer	Spanish/German	-	-	Breast cancer	1	Marcela Lopez - Instituto Donna
?/+?	14	c.1427C>T	p.(Thr476Met)	Hetero	PALB2	r.?	-	Unknown	g.28694066G>A	-	CHEK2_000006	-	-	DNA	SEQ-NG	23-Jan-2025	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	APC, ATM, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FANCM, GALNT12, GREM1, HOXB13, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RINT1, SMAD4, SMARCA4, STK11, TP53, XRCC2	Multigenetic panel	Breast cancer	Spanish-Arab-Argentinian	-	-	Breast cancer, Ovarian cancer	1	Guillermo Alberto-Instituto Fleming
?/?	13	c.1427C>T	p.(Thr476Met)	Hetero	no	r.?	-	Unknown	g.28694066G>A	-	CHEK2_000006	-	-	DNA	SEQ-NG	27-May-2025, 14-Aug-2025, 19-May-2025	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS, DIAGNUS LAB	Hereditary cancer panel (NGS) — Gene panel: APC, ATM, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FANCM, GALNT12, GREM1, HOXB13, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RINT1, SMAD4, SMARCA4, STK11, TP53, XRCC2, APC ATM BARD1 BLM BMPR1A BRCA1 BRCA2 BRIP1 CDH1 CDKN2A CHEK2 DICER1 EPCAM FANCC FANCM GALNT12 GREM1 HOXB13 MLH1 MSH2 MSH3 MSH6 MUTYH NBN NF1 NTHL1 PALB2 PMS2 POLD1 POLE PTEN RAD50 RAD51C RAD51D RINT1 SMAD4 SMARCA4 STK11 TP53 XRCC2, ABRAXAS1, AIP, ALK, ANKRD26, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, BUB1B, CASR, CBL, CD70, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CTC1, CTNNA1, CYLD, DDB2, DDX41, DICER1, DIS3L2, DKC1, EFL1, EGFR, EGLN1, ELANE, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ETV6, EXO1, EXT1, EXT2, EZH2, FAM111B, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GAA, GALNT12, GATA2, GBA, GLA, GPC3, GPR101, GREM1, HAVCR2, HDAC2, HNF1A, HNF1B, HOXB13, HRAS, IDUA, IKZF1, KIF1B, KIT, KITLG, KMT2D, KRAS, LZTR1, MAP2K1, MAP2K2, MAX, MBD4, MC1R, MDH2, MEN1, MERTK, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NHP2, NOP10, NRAS, NSD1, NSUN2, NTHL1, PALB2, PAX5, PDGFRA, PHOX2B, PMS1, PMS2, POLD1, POLE, POLH, POT1, PPM1D, PRF1, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, PTPN11, RAD50, RAD51C, RAD51D, RAF1, RASA2, RB1, RECQL, RECQL4, REST, RET, RHBDF2, RIT1, RNF43, RPS20, RRAS, RUNX1, SAMD9, SAMD9L, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SHOC2, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SOS1, SOS2, SPRED1, SRP72, STK11, SUFU, TERT, TGFBR2, TINF2, TMEM127, TP53, TRIP13, TSC1, TSC2, TYR, VHL, WRAP53, WRN, WT1, XPA, XPC, XRCC2, XRCC3	Multigenetic panel	Breast cancer, Colon cancer, Colonic Polyposis	European	-	-	Breast cancer, Ovarian cancer	1	Guillermo Alberto-Instituto Fleming
?/?	13	c.1451C>T	p.(Pro484Leu)	Hetero	no	r.?	-	Unknown	g.28694042G>A	-	CHEK2_000073	rs564605612	-	DNA	SEQ-NG	18-jun-2024	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2.	Multigenetic panel	Breast cancer	Spanish/Italian	-	-	Breast cancer	1	Marcela Lopez-CEMAFE
?/?	14	c.1510G>C	p.(Glu504Gln)	Hetero	no	r.(1510g>c)	-	Unknown	g.28689167C>G	-	CHEK2_000064	rs587782489	-	DNA	SEQ-NG	29-jan-2024	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS, Laboratorio Fares Taie	ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2.	Multigenetic panel	Melanoma	Spanish / Italian	-	-	Breast cancer, Pancreatic cancer	1	Silvina Sisterna-Hospital de Comunidad
?/?	15	c.1556G>T	p.(Arg519Leu)	Hetero	no	r.(1556g>u)	-	Unknown	g.28687973C>A	-	CHEK2_000016	-	-	DNA	SEQ-NG, CNV	21-mar-2024, 05-aug-2025	ARGENETICS, CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	ABRAXAS1, AIP, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CEBPA, CHEK2, DICER1, DIS3L2, EPCAM, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GALNT12, GATA2, GPC3, GREM1, HOXB13, KIF1B, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RECQL4, RET, RHBDF2, RINT1, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPINK1, SPRED1, STK11, SUFU, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WT1, XRCC2, APC ATM BARD1 BLM BMPR1A BRCA1 BRCA2 BRIP1 CDH1 CDKN2A CHEK2 DICER1 EPCAM FANCC FANCM GALNT12 GREM1 HOXB13 MLH1 MSH2 MSH3 MSH6 MUTYH NBN NF1 NTHL1 PALB2 PMS2 POLD1 POLE PTEN RAD50 RAD51C RAD51D RINT1 SMAD4 SMARCA4 STK11 TP53 XRCC2	Multigenetic panel	Breast cancer, Multiple Myeloma, N/A	Italian	-	-	Breast cancer, Multiple myeloma	1	Guillermo Alberto-Instituto Fleming
?/?	15	c.1586G>A	p.(Gly529Asp)	Hetero	no	r.?	-	Unknown	g.28687943C>T	-	CHEK2_000069	rs751653049	-	DNA	SEQ-NG	30-may-2024	COLOR	Panel (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLE, POLD1, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53.	Multigenetic panel	Breast cancer	Italian/Spanish	-	-	Breast cancer, Colon cancer, Pancreatic cancer	1	Angelucci Guillermina - Hospital Centeno
?/?	15	c.1596del	p.(Thr533fs)	Hetero	no	r.?	-	Unknown	g.28687934del	-	CHEK2_000076	rs587781519	-	DNA	SEQ-NG	12-nov-2024	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MSH3, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2.	Multigenetic panel	Pancreatic cancer, Prostate cancer	Spanish/Italian	-	-	Pancreatic cancer, Prostate cancer	1	Marcela Lopez - Instituto Donna

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How to query

sither

CHEK2 (checkpoint kinase 2)