Full data view for gene PALB2

Information The variants shown are described using the NM_024675.3 transcript reference sequence.

125 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA 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 Mastología)
+/+ 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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