PALB2 (partner and localizer of BRCA2)
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Curator:
Instituto Nacional del Cancer
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Full data view for gene PALB2
The variants shown are described using the NM_024675.3 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
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
MLH1
MSH2
MSH6
MUTYH
PALB2
PMS2
PTEN
APC
P53
STK11
TSC1
RET
VHL
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
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.
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:
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
Austral
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
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
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
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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.
125 entries on 2 pages. Showing entries 1 - 100.
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Effect
Exon
DNA change (cDNA)
Protein
Zygosity
Co_ocurrence
RNA change
Allele
DNA change (genomic) (hg38)
Reference
DB-ID
Template
Technique
Date of test
Lab
Remarks
Type of test
Disease
Ethnic origin
Reference
Remarks
Cuadro familiar
Panel size
Owner
+?/+?
11
exon 11 dup
=(?)
Hetero
no
=(?)
Unknown
=(?)
-
PALB2_000033
DNA
SEQ-NG
12-jan-2021
Genesia/Invitae
Secuenciación (NGS) panel Invitae de cancer de mama
Multigenetic panel
-
Italian; English
-
-
-
1
Luisina Bruno-Instituto Alexander Fleming
?/?
1-12
exons 1-12 duplication
p.(?)
Hetero
no
r.(?)
Unknown
exons 1-12 duplication
-
PALB2_000022
DNA
CNV, SEQ-NG
17-feb-2020
Color
(deriv. Genda) Hereditary Cancer Risk Test (30 genes)
Multigenetic panel
-
Not available
-
-
-
1
Santiago Acevedo-Hospital Británico (Servicio de MastologÃa)
+/+
1
c.7G>T
p.(Glu3*)
Hetero
N/A
r.(?)
Unknown
g.23641151C>A
-
PALB2_000003
DNA
SEQ-NG
6-oct-2017
Color-Genda
Hereditary Cancer Risk Test (30 genes)
-
-
Italian-Argentinian
-
-
-
1
Lina Nuñez-Hospital Alemán
+/+
1
c.7G>T
p.(Glu3*)
Hetero
N/A
r.(?)
Unknown
g.23641151C>A
-
PALB2_000003
DNA
SEQ-NG
04-nov-2020
Genda
Panel Genda (88 genes)
Multigenetic panel
-
Spanish
-
-
-
1
Marcela Lopez-CEMAFE
+/+
1
c.7G>T
p.(Glu3*)
Hetero
N/A
r.(?)
Unknown
g.23641151C>A
-
PALB2_000003
DNA
SEQ-NG
21-jan-2020
Alexander Fleming/Genesia-INVITAE
Panel de cáncer de mama y Ginecológico + un gen puntual (24 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMARCA4, STK11, TP53
Multigenetic panel
-
German; Italian
-
-
-
1
Luisina Bruno-Instituto Alexander Fleming
+/+
1
c.43G>T
p.(Glu15*)
Hetero
N/A
r.(?)
Unknown
g.23641115C>A
-
PALB2_000032
DNA
SEQ-NG
27-oct-2020
Invitae
Panel Invitae Cáncer de mama y ginecológico/3 genes individuales (36 genes)
Multigenetic panel
-
Argentinian
-
-
-
1
Carolina Ponce-Instituto Alexander Fleming
?/?
4
c.896C>T
p.(Ser299Phe)
Hetero
no
r.(?)
Unknown
g.23635650G>A
-
PALB2_000037
DNA
SEQ-NG
03-aug-2021
Héritas
Panel cáncer hereditario (28 genes) ATM,BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, RECQL4, RINT, SMARCA4, STK11, TP53, XRCC2
Multigenetic panel
-
Unknown
-
-
-
1
José Llugdar-IMOC
?/-?
4
c.1010T>C
p.(Leu337Ser)
Hetero
BRCA1
r.(?)
Unknown
g.23635536A>G
-
PALB2_000014
DNA
SEQ-NG
12-nov-2018
Hospital Privado Centro Médico de Córdoba
Panel breast&, ovarian 24 genes (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, CDC73, DICER1, EPCAM, FANCC, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53)
Multigenetic panel
Breast cancer
Unknown
-
-
MAMA/OVARIO HEREDITARIO
1
Norma Rossi-Hospital Privado Centro Médico de Córdoba
?/-?
4
c.1010T>C
p.(Leu337Ser)
Hetero
no
r.(?)
Unknown
g.23635536A>G
-
PALB2_000014
DNA
CNV, SEQ-NG
30-aug-2019
Hospital Privado Centro Médico de Córdoba
Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53). CNV in gene CDH1 could not be determined.
Multigenetic panel
-
Spanish-Italian
-
-
-
1
Claudia Martin-Hospital Privado Centro Médico de Córdoba
./-?
4
c.1010T>C
p.(Leu337Ser)
Hetero
no
r.(?)
Unknown
g.23635536A>G
-
PALB2_000014
DNA
CNV, SEQ-NG
26-feb-2020
IACA
Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53)
Multigenetic panel
Breast cancer
Italian
-
-
Mama
1
Silvina Sisterna-Hospital Privado
-/-?
4
c.1010T>C
p.(Leu337Ser)
Hetero
no
r.(?)
Unknown
g.23635536A>G
-
PALB2_000014
DNA
SEQ-NG
10-oct-2019
Domeq&, Lafage
-
Multigenetic panel
-
Caucasian
-
-
-
1
Erika Stegmayer-CIOC
+/+
4
c.1042C>T
p.(Gln348*)
Hetero
N/A
r.(?)
Unknown
g.23635504G>A
-
PALB2_000035
DNA
SEQ-NG
07-may-2019
Genos
Panel GENOS (30 genes) APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, GREM1, MLH1, MSH2, MSH6, MUTYH, NBN, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53
Multigenetic panel
-
Spanish; Argentinian
-
-
-
1
Luisina Bruno-Instituto Alexander Fleming
+/+
4
c.1192del
p.(Val398Cysfs*26)
Hetero
N/A
r.(?)
Unknown
g.23635354del
-
PALB2_000038
DNA
SEQ-NG
07-jul-2021
IACA
Panel IACA (22 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICERN, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53.
Multigenetic panel
-
Spanish
-
-
-
1
Claudia Martin-Hospital Privado Centro Médico de Córdoba
?/?
4
c.1222T>C
p.(Tyr408His)
Hetero
no
r.(?)
Unknown
g.23635324A>G
-
PALB2_000013
DNA
SEQ-NG, in-house algorithm for CNV
23-sep-2018
Invitae-Genia
Panel 26 genes (AKT1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, FAM175A, FANCC, MRE11, MUTYH, NBN, NF1, PALB2, PIK3CA, PTEN, RAD50, RAD51C, RAD51D, RINT1, SDHB, SDHD, STK11, TP53, XRCC2)
Multigenetic panel
-
Unknown
-
-
-
1
Alvaro Yanzi-Instituto San Marcos
./+
4
c.1240C>T
p.(Arg414*)
Hetero
N/A
r.(?)
Unknown
g.23635306G>A
-
PALB2_000031
DNA
SEQ
23-mar-2020
Biogenotec
Sanger Mutación puntual PALB2 y TP53
Specific pathology
-
unknown
-
-
-
1
Alejandra Mampel-COIR
+/+
4
c.1240C>T
p.(Arg414*)
Hetero
P53
r.(?)
Unknown
g.23635306G>A
-
PALB2_000031
DNA
SEQ-NG
29-oct-2020
Biogenotec
Panel Cáncer de mama y ovario DE 14 GENES (ATM, BRCA1, BRCA2, BRIP1, CHEK2, MLH1, MSH2, MSH6, NBN,PALB2, PMS2, PTEN, STK11, TP53)
Multigenetic panel
-
Spanish; Spanish
-
-
-
1
Alejandra Mampel-COIR
?/-?
4
c.1273G>A
p.(Val425Met)
Hetero
no
r.(?)
Unknown
g.23635273C>T
Reclassified November 2020
PALB2_000010
DNA
SEQ-NG
17-nov-2017
Color-Progenitest
Hereditary Cancer Risk Test (30 genes)
-
-
Japanese
-
-
-
1
Rita Valdez-Hospital Alemán
./-?
4
c.1572A>G
p.(=)
Hetero
no
r.(=)
Unknown
g.23634974T>C
-
PALB2_000020
DNA
CNV, SEQ-NG
26-feb-2020
IACA
Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53)
Multigenetic panel
Breast cancer
Italian
-
-
Mama
1
Silvina Sisterna-Hospital Privado
+/+
4
c.1592del
p.(Leu531Cysfs*30)
Hetero
N/A
r.(?)
Unknown
g.23634954del
-
PALB2_000023
DNA
SEQ-NG
16-dec-2020
Genos
Panel de 30 genes (APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, GREM1, MLH1, MSH2, MSH6, MUTYH, NBN, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53)
Multigenetic panel
-
Spanish/Irish
-
-
-
1
Alejandra Mampel-COIR
+/+
4
c.1653T>A
p.(Tyr551*)
Hetero
N/A
r.(?)
Unknown
g.23634893A>T
-
PALB2_000001
DNA
SEQ
24-may-2017
CEMIC
Known familial mutation
-
-
Spanish
-
-
-
1
Alejandra Mampel-Hospital Universitario de Mendoza
+/+
4
c.1653T>A
p.(Tyr551*)
Hetero
N/A
r.(?)
Unknown
g.23634893A>T
-
PALB2_000001
DNA
CNV, SEQ-NG
7-jun-2017
Color-Genda
Hereditary cancer panel (19 genes)
Multigenetic panel
-
Italian-Spanish
-
-
-
1
Patricia Quaglio-Consultorio AGO Lab CIGEN
+/+
4
c.1653T>A
p.(Tyr551*)
Hetero
BRCA2
r.(?)
Unknown
g.23634893A>T
-
PALB2_000001
DNA
SEQ-NG, in-house algorithm for CNV
18-sep-2018
Invitae-Genia
Panel 26 genes (AKT1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, FAM175A, FANCC, MRE11, MUTYH, NBN, NF1, PALB2, PIK3CA, PTEN, RAD50, RAD51C, RAD51D, RINT1, SDHB, SDHD, STK11, TP53, XRCC2)
Multigenetic panel
-
Italian-Argentinian
-
-
-
1
Alvaro Yanzi-Instituto San Marcos
+/+
4
c.1653T>A
p.(Tyr551*)
Hetero
N/A
r.(?)
Unknown
g.23634893A>T
-
PALB2_000001
DNA
CNVs, SEQ-NG
30-oct-2018
Hospital Privado Centro Médico de Córdoba
Panel breast&, ovarian 24 genes (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, CDC73, DICER1, EPCAM, FANCC, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53)
Multigenetic panel
--
Argentinian
-
-
-
1
Cecilia Montes-IMGO
+/+
4
c.1653T>A
p.(Tyr551*)
Hetero
N/A
r.(?)
Unknown
g.23634893A>T
-
PALB2_000001
DNA
SEQ-NG
12-feb-2019
Color-Genda
Hereditary Cancer Risk Test (30 genes)
Multigenetic panel
-
Italian
-
-
-
1
Lina Nuñez-Hospital Alemán
+/+
4
c.1653T>A
p.(Tyr551*)
Hetero
N/A
r.(?)
Unknown
g.23634893A>T
-
PALB2_000001
DNA
SEQ-NG-I, SEQ
01-mar-2021
Invitae
Panel Invitae de Cáncer de Mama y Ginecológicos Panel Invitae de Cáncer colorrectal 1 gen individual
Multigenetic panel
-
Spanish, Italian, Ukrainian
-
-
-
1
Luisina Bruno-Instituto Alexander Fleming
+/+
4
c.1653T>A
p.(Tyr551*)
Hetero
N/A
r.(?)
Unknown
g.23634893A>T
-
PALB2_000001
DNA
SEQ-NG
28-sep-2020
Alexander Fleming
Panel Invitae de Cáncer de mama y Ginecológico Panel invitae de Cáncer Colorrectal 1 gen puntual (33 genes APC, ATM, AXIN2, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, GREM1, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, TP53)
Multigenetic panel
-
Ashkenazi-italiano/español
-
-
-
1
Luisina Bruno-Instituto Alexander Fleming
+/+
4
c.1653T>A
p.(Tyr551*)
Hetero
N/A
r.(?)
Unknown
g.23634893A>T
-
PALB2_000001
DNA
SEQ-NG
14-oct-2020
Biogenotec
-
Multigenetic panel
-
Spanish/Spanish
-
-
-
1
Alejandra Mampel-COIR
+/+
4
c.1653T>A
p.(Tyr551*)
Hetero
N/A
r.(?)
Unknown
g.23634893A>T
-
PALB2_000001
DNA
SEQ-NG
17-oct-2019
Genda
NGS panel de 30 genes (APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, GREM1, MLH1, MSH2, MSH6, MUTYH, NBN, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53)
Multigenetic panel
-
Spanish/Spanish
-
-
-
1
Alejandra Mampel-COIR
+/+
4
c.1653T>A
p.(Tyr551*)
Hetero
N/A
r.(?)
Unknown
g.23634893A>T
-
PALB2_000001
DNA
SEQ-NG
16-nov-2018
Héritas
Panel de alto riesgo para cáncer hereditario
Multigenetic panel
-
Spanish; Spanish
-
-
-
1
Alejandra Mampel-Hospital Universitario de Mendoza
+/+
4
c.1653T>A
p.(Tyr551*)
Hetero
N/A
r.(?)
Unknown
g.23634893A>T
-
PALB2_000001
DNA
SEQ-NG
05-jan-2020
Color
Hereditary Cancer Risk Test (30 genes)
Multigenetic panel
-
Spanish; Spanish
-
-
-
1
Alejandra Mampel-COIR
+/+
4
c.1653T>A
p.(Tyr551*)
Hetero
N/A
r.(?)
Unknown
g.23634893A>T
-
PALB2_000001
DNA
SEQ-NG
13-may-2021
Biogenotec
-
Multigenetic panel
-
Spanish; Spanish
-
-
-
1
Alejandra Mampel-COIR
+/+
4
c.1653T>A
p.(Tyr551*)
Hetero
N/A
r.(?)
Unknown
g.23634893A>T
-
PALB2_000001
DNA
SEQ-NG
03-feb-2020
Biogenotec
-
Multigenetic panel
-
Spanish; Italian
-
-
-
1
Alejandra Mampel-Hospital Universitario de Mendoza
+/+
4
c.1653T>A
p.(Tyr551*)
Hetero
N/A
r.(?)
Unknown
g.23634893A>T
-
PALB2_000001
DNA
SEQ-NG
29-mar-2021
IACA
Panel IACA (27 genes) APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLE, POLD1, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53, VHL.
Multigenetic panel
Breast cancer
Argentinian
-
-
Gastrico
1
Silvina Sisterna-Hospital Privado
+/+
4
c.1653T>A
p.(Tyr551*)
Hetero
N/A
r.(?)
Unknown
g.23634893A>T
-
PALB2_000001
DNA
SEQ-NG
28-dec-2020
Hospital Privado Centro Médico de Córdoba
Panel Cáncer mama y Ovario (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53
Multigenetic panel
Breast cancer
Spanish
-
-
MAMA/OVARIO HEREDITARIO
1
Norma Rossi-Hospital Privado Centro Médico de Córdoba
+/+
4
c.1653T>A
p.(Tyr551*)
Hetero
N/A
r.(?)
Unknown
g.23634893A>T
-
PALB2_000001
DNA
SEQ-NG
21-jun-2021
Invitae
Panel Invitae de cáncer de mama y Ginecológico (37 genes)
Multigenetic panel
-
Spanish; Italian
-
-
-
1
Maria Cecilia Riggi-Hospital Italiano
+/+
4
c.1653T>A
p.(Tyr551*)
Hetero
N/A
r.(?)
Unknown
g.23634893A>T
-
PALB2_000001
DNA
SEQ-NG
31-jul-2020
Invitae
Panel Invitae Cáncer de mama y ginecológico/panel invitae de cáncer de próstata
Multigenetic panel
-
Italian/Spanish; Spanish
-
-
-
1
Carolina Ponce-Instituto Alexander Fleming
+/+
4
c.1653T>A
p.(Tyr551*)
Hetero
N/A
r.(?)
Unknown
g.23634893A>T
-
PALB2_000001
DNA
SEQ-NG
16-nov-2020
Invitae
Panel Invitae Cáncer de mama y ginecológico/3 genes individuales (26 genes)
Multigenetic panel
-
Spanish/French
-
-
-
1
Carolina Ponce-Instituto Alexander Fleming
+/+
4
c.1653T>A
p.(Tyr551*)
Hetero
N/A
r.(?)
Unknown
g.23634893A>T
-
PALB2_000001
DNA
SEQ-NG
07-jun-2018
Trinidad Medical Center
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
-
Spanish; Argetinian
-
-
-
1
Luisina Bruno-Instituto Alexander Fleming
+/+
4
c.1653T>A
p.(Tyr551*)
Hetero
N/A
r.(?)
Unknown
g.23634893A>T
-
PALB2_000001
DNA
SEQ-NG
26-jul-2021
Hospital Privado Centro Médico de Córdoba
Panel Cancer mama y Ovario (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP55
Multigenetic panel
-
Argentinian; Spanish
-
-
-
1
Claudia Martin-Hospital Privado Centro Médico de Córdoba
+/+
4
c.1653T>A
p.(Tyr551*)
Hetero
N/A
r.(?)
Unknown
g.23634893A>T
-
PALB2_000001
DNA
SEQ-NG
29-jul-2021
Hospital Privado Centro Médico de Córdoba
Panel Cancer mama y Ovario (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP55
Multigenetic panel
-
Argentinian
-
-
-
1
Claudia Martin-Hospital Privado Centro Médico de Córdoba
+/+
4
c.1653T>A
p.(Tyr551*)
Hetero
N/A
r.(?)
Unknown
g.23634893A>T
-
PALB2_000001
DNA
SEQ-NG
28-sep-2020
LACE
", Panel (30 genes) 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
--
Italian; Argentinian
-
-
-
1
Cecilia Montes-IMGO
+/+
4
c.1653T>A
p.(Tyr551*)
Hetero
N/A
r.(?)
Unknown
g.23634893A>T
-
PALB2_000001
DNA
SEQ-NG
16-oct-2020
Biogenotec
", Panel Cáncer de mama BIOCENOTEC (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMARCA4, STK11, TP53, XRCC2, RECQL4.",
Multigenetic panel
-
Italian; Chilean
-
-
-
1
Laura Vargas Roig-IMBECU
+/+
4
c.1653T>A
p.(Tyr551*)
Hetero
N/A
r.(?)
Unknown
g.23634893A>T
-
PALB2_000001
DNA
SEQ-NG
05-oct-2020
Biogenotec
Panel Cáncer de mama y ovario BIOGENOTEC (32 genes) ATM, APC, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLE, POLD1, PTEN, RAD50, RAD51C, RAD51D, RECQL4, SMARCA4, STK11, TP53, XRCC2.
Multigenetic panel
-
French Basque; Portuguese
-
-
-
1
Laura Vargas Roig-IMBECU
+/+
4
c.1653T>A
p.(Tyr551*)
Hetero
N/A
r.(?)
Unknown
g.23634893A>T
-
PALB2_000001
DNA
SEQ-NG
15-oct-2021
Hospital Privado Centro Médico de Córdoba
Panel Cancer mama y Ovario (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53
Multigenetic panel
-
Argentinian
-
-
-
1
Claudia Martin-Hospital Privado Centro Médico de Córdoba
-/-?
4
c.1676A>G
p.(Gln559Arg)
Hetero
no
r.(?)
Unknown
g.23634870T>C
-
PALB2_000004
DNA
SEQ-NG, z-score-CNV
13-oct-2016
Héritas
Panel Héritas (12 genes)
-
-
Caucasian-Spanish
-
-
-
1
Laura Vargas Roig-IMBECU
-/-?
4
c.1676A>G
p.(Gln559Arg)
Hetero
no
r.(?)
Unknown
g.23634870T>C
-
PALB2_000004
DNA
SEQ-NG
14-sep-2017
IACA
CNVs screening for BRCA1, BRCA2, PALB2
-
-
Italian
-
-
-
1
Alejandra Mampel-Hospital Universitario de Mendoza
-/-?
4
c.1676A>G
p.(Gln559Arg)
Hetero
BRCA1
r.(?)
Unknown
g.23634870T>C
-
PALB2_000004
DNA
SEQ-NG, z-score-CNV
21-jul-2017
Héritas
-
Multigenetic panel
-
Caucasian
-
-
-
1
Gonzalo Tabares-CEMA
-/-
4
c.1676A>G
p.(Gln559Arg)
Hetero
BRCA2
r.(?)
Unknown
g.23634870T>C
Reclassified June 2019
PALB2_000004
DNA
SEQ-NG, z-score-CNV
22-oct-2017
Héritas
-
Multigenetic panel
-
Italian
-
-
-
1
Gonzalo Tabares-CEMA
-/-
4
c.1676A>G
p.(Gln559Arg)
Hetero
BRCA2
r.(?)
Unknown
g.23634870T>C
-
PALB2_000004
DNA
SEQ-NG
4-aug-2019
CEMIC
-
Multigenetic panel
-
Spanish-Italian
-
-
-
1
Claudia Martin-Hospital Privado Centro Médico de Córdoba
-/-
4
c.1676A>G
p.(Gln559Arg)
Hetero
no
r.(?)
Unknown
g.23634870T>C
-
PALB2_000004
DNA
CNV, SEQ-NG
9-dec-2019
IACA
-
Multigenetic panel
Breast cancer
Italian-Spanish
-
-
Mama
1
Silvina Sisterna-Hospital Privado
./-
4
c.1676A>G
p.(Gln559Arg)
Not specified
no
r.(?)
Unknown
g.23634870T>C
-
PALB2_000004
DNA
CNV, SEQ-NG
10-jan-2020
IACA
Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53)
Multigenetic panel
Breast cancer
Spanish-Italian
-
-
Pancreas
1
Silvina Sisterna-Hospital Privado
-/-
4
c.1676A>G
p.(Gln559Arg)
Homo
no
r.(?)
Unknown
g.23634870T>C
-
PALB2_000004
DNA
CNV, SEQ-NG
2-aug-2018
IACA
CNV test of BRCA1, BRCA2, PALB2, RAD51C, RAD51D, TP53.
Multigenetic panel
Breast cancer
Italian-French-Basque
-
-
Melanoma
1
Silvina Sisterna-Hospital Privado
./-
4
c.1676A>G
p.(Gln559Arg)
Not specified
ATM
r.(?)
Unknown
g.23634870T>C
-
PALB2_000004
DNA
CNV, SEQ-NG
4-oct-2019
IACA
-
Multigenetic panel
Breast cancer
Spanish-Italian-Argentinian
-
(antec personales/explica cuadro)
Mama
1
Silvina Sisterna-Hospital Privado
./-
4
c.1676A>G
p.(Gln559Arg)
Not specified
no
r.(?)
Unknown
g.23634870T>C
-
PALB2_000004
DNA
CNV, SEQ-NG
24-sep-2019
IACA
-
Multigenetic panel
-
Italian-Spanish
-
-
-
1
Silvina Sisterna-Hospital Privado
-/-
4
c.1676A>G
p.(Gln559Arg)
Hetero
no
r.(?)
Unknown
g.23634870T>C
-
PALB2_000004
DNA
CNV, SEQ-NG
16-aug-2019
IACA
Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, SMAD4, STK11, TP53, VHL)
Multigenetic panel
Breast cancer, Kidney cancer
Spanish-Italian
-
-
Mama,Riñon
1
Silvina Sisterna-Hospital Privado
-/-
4
c.1676A>G
p.(Gln559Arg)
Hetero
no
r.(?)
Unknown
g.23634870T>C
-
PALB2_000004
DNA
CNV, SEQ-NG
7-may-2019
IACA
-
Multigenetic panel
-
Spanish-Italian
-
-
-
1
Silvina Sisterna-Hospital Privado
./-
4
c.1676A>G
p.(Gln559Arg)
Hetero
no
r.(?)
Unknown
g.23634870T>C
-
PALB2_000004
DNA
CNV, SEQ-NG
26-feb-2020
IACA
Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53)
Multigenetic panel
Breast cancer
Italian
-
-
Mama
1
Silvina Sisterna-Hospital Privado
-/-
4
c.1676A>G
p.(Gln559Arg)
Hetero
no
r.(?)
Unknown
g.23634870T>C
-
PALB2_000004
DNA
SEQ-NG
25-sep-2019
CEMIC
-
Multigenetic panel
-
Argentinian
-
-
-
1
Erika Stegmayer - Inst. Nuestra Señora de las Mercedes
-/-
4
c.1676A>G
p.(Gln559Arg)
Hetero
no
r.(?)
Unknown
g.23634870T>C
-
PALB2_000004
DNA
SEQ-NG
10-oct-2019
Domeq&, Lafage
-
Multigenetic panel
-
Caucasian
-
-
-
1
Erika Stegmayer-CIOC
./-
4
c.1676A>G
p.(Gln559Arg)
Homo
no
r.(?)
Unknown
g.23634870T>C
-
PALB2_000004
DNA
CNV, SEQ-NG
4-may-2020
IACA
Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53)
Multigenetic panel
-
Italian-Spanis-Ashkenazi
-
-
-
1
Silvina Sisterna-Hospital Privado
-/-
4
c.1676A>G
p.(Gln559Arg)
Hetero
no
r.(?)
Unknown
g.23634870T>C
-
PALB2_000004
DNA
CNV, SEQ-NG
27-nov-2019
Invitae
(deriv. Genesia) Invitae Multi-Cancer Panel (84 genes)
Multigenetic panel
-
Spanish-Italian
-
-
-
1
Lina Nuñez-Private Practice
-/-?
5
c.1767G>A
p.(=)
Hetero
no
r.(=)
Unknown
g.23630387C>T
-
PALB2_000007
DNA
SEQ-NG
14-sep-2017
IACA
CNVs screening for BRCA1, BRCA2, PALB2
-
-
Italian
-
-
-
1
Alejandra Mampel-Hospital Universitario de Mendoza
+?/+
5
c.1838delA
p.(Gln613Argfs*15)
Hetero
no
r.(?)
Unknown
g.23630316delT
Reclassified November 2020
PALB2_000009
DNA
SEQ-NG
1-nov-2017
STEM
Panel Cáncer de mama-ovario Hereditario STEM (11 genes)
-
-
Not available
-
-
-
1
Gonzalo Tabares-CEMA
+/+
5
c.1959T>A
p.(Cys653*)
Hetero
N/A
r.(?)
Unknown
g.23630195A>T
-
PALB2_000018
DNA
CNV, SEQ-NG
30-dec-2019
Hospital Privado Centro Médico de Córdoba
Panel breast-ovarian (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53)
Multigenetic panel
-
Spanish-Italian
-
(antec ambos/explica cuadro)
-
1
Claudia Martin-Hospital Privado Centro Médico de Córdoba
+/+
5
c.1959T>A
p.(Cys653*)
Hetero
N/A
r.(?)
Unknown
g.23630195A>T
-
PALB2_000018
DNA
SEQ
17-apr-2020
Hospital Privado Centro Médico de Córdoba
-
Known familial mutation
-
Spanish-Italian
-
(explica cuadro fliar)
-
1
Claudia Martin-Hospital Privado Centro Médico de Córdoba
+/+
5
c.1959T>A
p.(Cys653*)
Hetero
N/A
r.(?)
Unknown
g.23630195A>T
-
PALB2_000018
DNA
SEQ
17-apr-2020
Hospital Privado Centro Médico de Córdoba
-
Known familial mutation
-
Spanish-Italian-Argentinian
-
(explica cuadro fliar)
-
1
Claudia Martin-Hospital Privado Centro Médico de Córdoba
-/-?
5
c.2014G>C
p.(Glu672Gln)
Hetero
no
r.(?)
Unknown
g.23630140C>G
-
PALB2_000006
DNA
SEQ-NG
14-sep-2017
IACA
CNVs screening for BRCA1, BRCA2, PALB2
-
-
Italian
-
-
-
1
Alejandra Mampel-Hospital Universitario de Mendoza
-/-?
5
c.2014G>C
p.(Glu672Gln)
Hetero
no
r.(?)
Unknown
g.23630140C>G
-
PALB2_000006
DNA
SEQ-NG, z-score-CNV
15-nov-2017
Héritas
Panel Héritas (24 genes) BRCA1-BRCA2-PTEN-TP53-ATM-CDH1-CHEK2-NBN-NF1-PALB2-STK11-BRIP1-RAD51C-RAD51D-MLH1-MSH2-MSH6-PMS2-APC-MUTYH-BMPR1A-SMAD4-CDKN2A-CDK4
-
-
Spanish
-
-
-
1
Alejandra Mampel-Hospital Universitario de Mendoza
-?/-?
5
c.2014G>C
p.(Glu672Gln)
Hetero
no
r.(?)
Unknown
g.23630140C>G
-
PALB2_000006
DNA
SEQ-NG
29-jun-2018
Héritas
Panel Héritas (BRCA1,BRCA2,PTEN,TP53,ATM,CDH1,CHEK2,NBN,NF1,STK11,BRIP1,RAD51C,RAD51D,MLH1,MSH2,MSH6,PMS2,EPCAM,APC,MUTYH,BMPR1A,SMAD4,CDKN2A,CDK4)
Multigenetic panel
-
Spanish
-
-
-
1
Laura Vargas Roig-IMBECU
-/-?
5
c.2014G>C
p.(Glu672Gln)
Hetero
BRCA2
r.(?)
Unknown
g.23630140C>G
-
PALB2_000006
DNA
SEQ-NG
4-aug-2019
CEMIC
-
Multigenetic panel
-
Spanish-Italian
-
-
-
1
Claudia Martin-Hospital Privado Centro Médico de Córdoba
-?/-?
5
c.2014G>C
p.(Glu672Gln)
Hetero
no
r.(?)
Unknown
g.23630140C>G
-
PALB2_000006
DNA
CNV, SEQ-NG
9-dec-2019
IACA
-
Multigenetic panel
Breast cancer
Italian-Spanish
-
-
Mama
1
Silvina Sisterna-Hospital Privado
./-?
5
c.2014G>C
p.(Glu672Gln)
Not specified
no
r.(?)
Unknown
g.23630140C>G
-
PALB2_000006
DNA
CNV, SEQ-NG
10-jan-2020
IACA
Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53)
Multigenetic panel
Breast cancer
Spanish-Italian
-
-
Pancreas
1
Silvina Sisterna-Hospital Privado
-?/-?
5
c.2014G>C
p.(Glu672Gln)
Hetero
no
r.(?)
Unknown
g.23630140C>G
-
PALB2_000006
DNA
CNV, SEQ-NG
2-aug-2018
IACA
CNV test of BRCA1, BRCA2, PALB2, RAD51C, RAD51D, TP53.
Multigenetic panel
Breast cancer
Italian-French-Basque
-
-
Melanoma
1
Silvina Sisterna-Hospital Privado
./-?
5
c.2014G>C
p.(Glu672Gln)
Not specified
ATM
r.(?)
Unknown
g.23630140C>G
-
PALB2_000006
DNA
CNV, SEQ-NG
4-oct-2019
IACA
-
Multigenetic panel
Breast cancer
Spanish-Italian-Argentinian
-
(antec personales/explica cuadro)
Mama
1
Silvina Sisterna-Hospital Privado
./-?
5
c.2014G>C
p.(Glu672Gln)
Not specified
no
r.(?)
Unknown
g.23630140C>G
-
PALB2_000006
DNA
CNV, SEQ-NG
24-sep-2019
IACA
-
Multigenetic panel
-
Italian-Spanish
-
-
-
1
Silvina Sisterna-Hospital Privado
-/-?
5
c.2014G>C
p.(Glu672Gln)
Hetero
no
r.(?)
Unknown
g.23630140C>G
-
PALB2_000006
DNA
CNV, SEQ-NG
16-aug-2019
IACA
Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, SMAD4, STK11, TP53, VHL)
Multigenetic panel
Breast cancer, Kidney cancer
Spanish-Italian
-
-
Mama,Riñon
1
Silvina Sisterna-Hospital Privado
-/-?
5
c.2014G>C
p.(Glu672Gln)
Hetero
no
r.(?)
Unknown
g.23630140C>G
-
PALB2_000006
DNA
SEQ-NG
25-sep-2019
CEMIC
-
Multigenetic panel
-
Argentinian
-
-
-
1
Erika Stegmayer - Inst. Nuestra Señora de las Mercedes
./-
5
c.2014G>C
p.(Glu672Gln)
Homo
no
r.(?)
Unknown
g.23630140C>G
Reclassified November 2020
PALB2_000006
DNA
CNV, SEQ-NG
4-may-2020
IACA
Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53)
Multigenetic panel
-
Italian-Spanis-Ashkenazi
-
-
-
1
Silvina Sisterna-Hospital Privado
?/?
5
c.2078A>T
p.(His693Leu)
Hetero
no
r.(?)
Unknown
g.23630076T>A
-
PALB2_000016
DNA
CNV, SEQ-NG
4-sep-2019
Hospital Privado Centro Médico de Córdoba
Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53)
Multigenetic panel
-
Not available
-
-
-
1
Claudia Martin-Hospital Privado Centro Médico de Córdoba
+/+
5
c.2218C>T
p.(Gln740*)
Hetero
N/A
r.(?)
Unknown
g.23629936G>A
-
PALB2_000034
DNA
SEQ-NG
19-sep-2019
Alexander Fleming/Genesia-INVITAE
Panel de cáncer de mama y Ginecológico + un gen puntual (24 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMARCA4, STK11, TP53
Multigenetic panel
-
Argentinian
-
-
-
1
Luisina Bruno-Instituto Alexander Fleming
+/+
5
c.2218C>T
p.(Gln740*)
Hetero
N/A
r.(?)
Unknown
g.23629936G>A
-
PALB2_000034
DNA
SEQ-NG
01-jan-2020
IACA
Panel (13 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CHEK2, NBN, PALB2, PTEN,RAD51C, RAD51D, STK11,TP53
Multigenetic panel
-
Italian; Argentinian
-
-
-
1
Luisina Bruno-Instituto Alexander Fleming
+/+
5
c.2218C>T
p.(Gln740*)
Hetero
N/A
r.(?)
Unknown
g.23629936G>A
-
PALB2_000034
DNA
SEQ-NG
07-jan-2020
Genos/Color
Panel GENOS (30 genes) APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, GREM1, MLH1, MSH2, MSH6, MUTYH, NBN, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53
Multigenetic panel
-
Argentinian; Argentinian
-
-
-
1
Luisina Bruno-Instituto Alexander Fleming
+/+
5
c.2218C>T
p.(Gln740*)
Hetero
N/A
r.(?)
Unknown
g.23629936G>A
-
PALB2_000034
DNA
SEQ-NG
18-jan-2021
Sanatorio Allende
", Panel (30 genes) 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
--
Grek;Italian
-
-
-
1
Cecilia Montes-IMGO
+/+
5
c.2218C>T
p.(Gln740*)
Hetero
N/A
r.(?)
Unknown
g.23629936G>A
-
PALB2_000034
DNA
SEQ-NG
10-sep-2021
Hospital Privado Centro Médico de Córdoba
Panel Cancer Hereditario (30 genes) ATM BARD1 BRCA1 BRCA2 BRIP1 CDC73 CDH1 CHECK2 DICER1 EPCAM FANCC FANCM MLH1 MSH2 MSH6 MUTYH NBN NF1 NF2 PALB2 PMS2 POLD1 PTEN RAD50 RAD51C RAD51D SDHB SDHD STK11 TP53
Multigenetic panel
--
Argentinian
-
-
-
1
Virginia Miretti - Hospital de Cordoba
+/+
5
c.2257C>T
p.(Arg753*)
Hetero
N/A
r.(?)
Unknown
g.23629897G>A
-
PALB2_000026
DNA
SEQ-NG
22-apr-2021
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
-
-
Mama
1
Silvina Sisterna-Hospital Privado
+/+
5
c.2336C>G
p.(Ser779*)
Hetero
ATM
r.(?)
Unknown
g.23629818G>C
-
PALB2_000025
DNA
SEQ-NG
28-Jan-2021
Color
Hereditary Cancer Risk Test (30 genes)
Multigenetic panel
-
Spanish
-
-
-
1
Silvia Avila-Cons. y Lab. de Genetica
+/+
5
c.2336C>G
p.(Ser779*)
Hetero
N/A
r.(?)
Unknown
g.23629818G>C
-
PALB2_000025
DNA
SEQ-NG
17-may-2019
Genos
Secuenciación (NGS-Illumina) panel de (30 genes) APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, GREM1, MLH1, MSH2, MSH6, MUTYH, NBN, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53
Multigenetic panel
-
Italian; Basque
-
-
-
1
Carolina Ponce-Instituto Alexander Fleming
+/+
5
c.2336C>G
p.(Ser779*)
Hetero
N/A
r.(?)
Unknown
g.23629818G>C
-
PALB2_000025
DNA
SEQ-NG
28-jan-2021
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
-
Argentinian
-
-
-
1
Maria Constanza Vallone-Hospital Austral
?/?
5
c.2506G>A
p.(Val836Ile)
Hetero
no
r.(?)
Unknown
g.23629648C>T
-
PALB2_000019
DNA
CNV, SEQ-NG
17-feb-2020
Fares Taie
Panel 30 genes (derivación)
Multigenetic panel
-
Spanish
-
-
-
1
Lina Nuñez-Private Practice
-?/-?
7
c.2590C>T
p.(Pro864Ser)
Hetero
no
r.(?)
Unknown
g.23626394G>A
-
PALB2_000002
DNA
SEQ-NG, z-score-CNV
12-jan-2017
Héritas
Panel Héritas (9 genes)
-
--
Italian
-
-
-
1
Lina Nuñez-Hospital Alemán
-/-?
8
c.2794G>A
p.(Val932Met)
Hetero
no
r.(?)
Unknown
g.23624049C>T
-
PALB2_000012
DNA
SEQ-NG
3-jan-2018
CEMIC
Panel CEMIC
-
-
Italian-Spanish
-
-
-
1
Pablo Kalfayan-Hospital Italiano
+/.
9
c.2872_2875del
p.(Gln958Tyrfs*3)
Hetero
no
r.(?)
Unknown
g.23623090_23623093del
-
PALB2_000036
DNA
SEQ-NG
02-sep-2019
Hospital Privado Centro Médico de Córdoba
", Panel cáncer hereditario (105 genes) AIP BRIP1 CEP57 ERCC4 FANCF HNF1A MUTYH POLD1 RB1 SDHD VHL ALK BUB1B CHEK2 ERCC5 FANCG HRAS NBN POLE RECQL4 SLX4 WRN APC CASR CYLD EXT1 FANCI KIT NF1 PPM1D RET SMAD4 WT1 ATM CDC73 DDB2 EXT2 FANCL MAX NF2 PRF1 RHBDF2 SMARCB1 XPA BAP1 CDH1 DICER1 EZH2 FANCM MEN1 NSD1 PRKAR1A RUNX1 STK11 XPC BARD1 CDK4 DIS3L2 FANCA FH MET PALB2 PTCH1 SBDS SUFU BLM CDKN1B EGFR FANCB FLCN MLH1 PDE4D PTEN SDHA TMEM127 BMPR1A CDKN1C EPCAM FANCC GATA2 MRE11 PHOX2B RAD50 SDHAF2 TP53 BRCA1 CDKN2A ERCC2 FANCD2 GNAS MSH2 PMS1 RAD51C SDHB TSC1 BRCA2 CEBPA ERCC3 FANCE GPC3 MSH6 PMS2 RAD51D SDHC TSC2",
Multigenetic panel
-
Unknown
-
-
-
1
Claudia Martin-Hospital Privado Centro Médico de Córdoba
+/+
9
c.2964del
p.(Val989*)
Hetero
N/A
r.(?)
Unknown
g.23623001del
-
PALB2_000021
DNA
CNV, SEQ-NG
16-sep-2020
Color
(deriv. Genda) Hereditary Cancer Risk Test (30 genes)
Multigenetic panel
-
German-Basque
-
-
-
1
Lina Nuñez-Hospital Alemán
+/+
9
c.2964delA
p.(Val989*)
Hetero
N/A
r.(?)
Unknown
g.23623001delT
-
PALB2_000024
DNA
SEQ-NG
11-aug-2018
Héritas
Panel cáncer hereditario de 25 genes (APC, ATM, BMPRIA, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53)
Multigenetic panel
-
Spanish/Spanish
-
-
-
1
Alejandra Mampel-Hospital Universitario de Mendoza
+/+
9
c.2964delA
p.(Val989*)
Hetero
N/A
r.(?)
Unknown
g.23623001delT
-
PALB2_000024
DNA
?
22-apr-2021
Genda
No especifica metodología
Multigenetic panel
-
Spanish; Amerindian
-
-
-
1
Silvia Avila-Cons. y Lab. de Genetica
+/+
9
c.2964delA
p.(Val989*)
Hetero
N/A
r.(?)
Unknown
g.23623001delT
-
PALB2_000024
DNA
SEQ-NG
01-nov-2018
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
--
Ashkenazi; Sefaradie
-
-
-
1
Cecilia Montes-IMGO
-/-?
9
c.2993G>A
p.(Gly998Glu)
Hetero
no
r.(?)
Unknown
g.23622972C>T
-
PALB2_000008
DNA
SEQ-NG, z-score-CNV
15-nov-2017
Héritas
Panel Héritas (24 genes) BRCA1-BRCA2-PTEN-TP53-ATM-CDH1-CHEK2-NBN-NF1-PALB2-STK11-BRIP1-RAD51C-RAD51D-MLH1-MSH2-MSH6-PMS2-APC-MUTYH-BMPR1A-SMAD4-CDKN2A-CDK4
-
-
Spanish
-
-
-
1
Alejandra Mampel-Hospital Universitario de Mendoza
-?/-?
9
c.2993G>A
p.(Gly998Glu)
Hetero
no
r.(?)
Unknown
g.23622972C>T
-
PALB2_000008
DNA
SEQ-NG
29-jun-2018
Héritas
Panel Héritas (BRCA1,BRCA2,PTEN,TP53,ATM,CDH1,CHEK2,NBN,NF1,STK11,BRIP1,RAD51C,RAD51D,MLH1,MSH2,MSH6,PMS2,EPCAM,APC,MUTYH,BMPR1A,SMAD4,CDKN2A,CDK4)
Multigenetic panel
-
Spanish
-
-
-
1
Laura Vargas Roig-IMBECU
-/-?
9
c.2993G>A
p.(Gly998Glu)
Hetero
BRCA2
r.(?)
Unknown
g.23622972C>T
-
PALB2_000008
DNA
SEQ-NG
4-aug-2019
CEMIC
-
Multigenetic panel
-
Spanish-Italian
-
-
-
1
Claudia Martin-Hospital Privado Centro Médico de Córdoba
-?/-?
9
c.2993G>A
p.(Gly998Glu)
Hetero
no
r.(?)
Unknown
g.23622972C>T
-
PALB2_000008
DNA
CNV, SEQ-NG
9-dec-2019
IACA
-
Multigenetic panel
Breast cancer
Italian-Spanish
-
-
Mama
1
Silvina Sisterna-Hospital Privado
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