Full data view for gene BRIP1

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

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

Exon     

AscendingDNA 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     
?/? 2 c.1A>G p.? Hetero no r.? - Unknown g.61861539T>C - BRIP1_000005 - - DNA SEQ-NG 17-nov-2017 Genesia - Progenitest, COLOR Hereditary Cancer Risk Test (30 genes) Multigenetic panel - Japanese - - - 1 Rita Valdez-Hospital Alemán
?/? 3 c.139C>G (p.Pro47Ala) Hetero no r.(139c>g) - Unknown g.61859862G>C - BRIP1_000026 rs28903098 - DNA SEQ-NG 19-dec-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 Latin-american - - Breast cancer 1 Guillermo Alberto-Instituto Fleming
?/? 4 c.344C>T p.(Pro115Leu) Hetero MLH1 r.(344c>u) - Unknown g.61857093G>A - BRIP1_000021 - - DNA SEQ-NG 31-may-2022 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 Colon cancer Peruvian - - Colon cancer 1 Jesica Ramirez-Hospital Central de Mendoza
?/? 4 c.364T>G (p.Ser122Ala) Hetero no r.? - Unknown g.61857073A>C - BRIP1_000029 rs1555617788 - DNA SEQ-NG 14-mar-2024 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 Syrian - - Breast cancer 1 Guillermo Alberto-Instituto Fleming
?/? 5 c.388G>A p.(Glu130Lys) Hetero no r.(?) - Unknown g.61849248C>T - BRIP1_000008 - - DNA SEQ-NG 18-sep-2018 GENDA, COLOR COLOR Hereditary Cancer Test (30 Genes) Multigenetic panel Breast cancer, Thyroid cancer Spanish-Italian - - Breast cancer, Thyroid cancer 1 Lina Nuñez-Hospital Alemán
+/+ 5i c.394dup p.(Thr132Asnfs*10) Hetero N/A r.(?) - Unknown g.61849242dup - BRIP1_000011 - - DNA SEQ-NG 20-mar-2019 Genos Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, ERCC4, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS1, PTEN, RAD51, RAD51C, RAD51D, RECQL, STK11, TP53, XRCC2) Multigenetic panel -- Italian-Basque-French - CIA (antec ambos/explica cuadro) - 1 Angeles Nico-Instituto Roffo
-/- 5i c.508-31C>G p.(=) Hetero no r.(=) - Unknown g.61847251G>C - BRIP1_000010 - - DNA SEQ-NG 22-aug-2018 CEMIC - Multigenetic panel -- Spanish-Italian - - - 1 Pablo Kalfayan-Hospital Italiano
./? 6 c.517C>T p.(Arg173Cys) Hetero no r.(?) - Unknown g.61847211G>A - BRIP1_000015 - - 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 - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
?/? 6 c.517C>T p.(Arg173Cys) Hetero ATM r.(517c>u) - Unknown g.61847211G>A - BRIP1_000015 - - DNA SEQ-NG 27-dec-2021 Hospital Privado Centro Médico de Córdoba PANEL CÁNCER MAMA-OVARIO (30 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53 Multigenetic panel -- jew (Ashkenazi) - - - 1 Virginia Miretti-Hospital de Córdoba
?/? 6 c.517C>T p.(Arg173Cys) Hetero no r.(517c>u) - Unknown g.61847211G>A - BRIP1_000015 rs4988345 - DNA SEQ-NG, CNV 28-01-23 Fundación para el Progreso de la Medicina Breast and ovarian cancer panel (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 Argentinean/Basque - French - - Breast cancer 1 Cecilia Montes-IMGO
?/? 7 c.679C>G p.(Gln227Glu) Hetero no r.(679c>g) - Unknown g.61808706G>C - BRIP1_000020 - - DNA SEQ-NG 09-feb-2022 Genia Panel de genes para Cáncer Hereditario ( 143 genes ) Multigenetic panel -- Spanish; Swedish-Argentinean - - - 1 Pablo Kalfayan-Hospital Italiano
?/? 7 c.679C>G p.(Gln227Glu) Hetero no r.(679c>g) - Unknown g.61808706G>C - BRIP1_000020 - - DNA SEQ-NG 05-05-22 Hospital Privado Centro Médico de Córdoba Breast and Ovarian Cancer panel (30 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53 Multigenetic panel -- Spanish - - - 1 Virginia Miretti-Hospital de Córdoba
?/? 7 c.845C>G p.(Thr282Ser) Hetero no r.? - Unknown g.61808540G>C - BRIP1_000032 rs45624635 - DNA SEQ-NG, CNV 01-may-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-Argentinean-Bulgarian - - Breast cancer, Ovarian cancer, Prostate cancer 1 Guillermo Alberto-Instituto Fleming
+/+ 8 c.1066C>T p.(Arg356*) Hetero N/A r.(?) - Unknown g.61801327G>A - BRIP1_000007 - - DNA SEQ-NG 22-dec-2017 GENDA, COLOR Hereditary Cancer Risk Test (30 genes) Multigenetic panel Ovarian cancer Italian - - Colon cancer, Ovarian cancer 1 Lina Nuñez-Hospital Alemán
?/? 11-12i c.1629-3T>C p.? Hetero no r.spl? - Unknown g.61781008A>G - BRIP1_000017 - - DNA SEQ-NG 22-apr-2021 IACA Panel IACA (20 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53. Multigenetic panel Ovarian cancer Argentinian - - Ovarian cancer 1 Silvina Sisterna-Hospital de Comunidad
?/? 12 c.1663A>G p.(Thr555Ala) Hetero no r.(?) - Unknown g.61780971T>C - BRIP1_000012 - - DNA CNV, SEQ-NG 28-oct-2019 Invitae (deriv. Genda) Invitae Multi-Cancer Panel (84 genes) Multigenetic panel - Spanish - - - 1 Maria Micaela Zicavo-Inst. Diag. La Plata
?/? 12 c.1676C>G p.(Thr559Arg) Hetero no r.? - Unknown g.61780958G>C - BRIP1_000031 rs876658266 - DNA SEQ-NG 07-feb-2024 GENOS, Sistemas Genómicos Massive sequencing of a panel of genes related to hereditary cancer: ACD, AIP, AKT1, ALK, APC, AR, ATM, ATR, ATRX, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CSF3R, CTNNA1, DDB2, DICER1, DIS3L2, DKC1, DLST, EGLN1, EGLN2, ELANE, EPAS1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, G6PC3, GALNT12, GCM2, GDNF, GFI1, GPC3, GPR101, GREM1, HAX1, HNF1A, HNF1B, HOXB13, HRAS, IDH1, JAGN1, KIF1B, KIT, LZTR1, MAD2L2, MAX, MC1R, MDH2, MEN1, MET, MITF, MLH1, MLH3, MNX1, MRE11, MSH2, MSH3, MSH6, MSR1, MUTYH, NBN, NF1, NF2, NFIX, NHP2, NOP10, NSD1, NTHL1, PALB2, PARN, PDGFRA, PHOX2B, PIK3CA, PMS1, PMS2, PMS2CL, POLD1, POLE, POLH, POT1, PRCC, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, RAD50, RAD51, RAD51C, RAD51D, RB1, RECQL, RECQL4, RET, RFWD3, RNF139, RNF43, RPS20, RTEL1, SCG5, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLC25A11, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SRP54, STK11, SUFU, TERC, TERT, TGFBR2, TINF2, TMEM127, TP53, TSC1, TSC2, UBE2T, VHL, VPS45, WAS, WRAP53, WRN, WT1, XPA, XPC, XRCC2, XRCC3 Multigenetic panel N/A European - - Breast cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
+/+ 12 c.1702_1703del p.(Asn568Trpfs*9) Hetero N/A r.? - Unknown g.61780931_61780932del - BRIP1_000034 - - DNA SEQ-NG 30-jun-2023 GENDA, 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 Colon cancer Argentinean/Spanish - - Colon cancer 1 Jesica Ramirez-Hospital Central de Mendoza
?/? 13 c.1831G>A p.(Val611Ile) Hetero no r.(1831g>a) - Unknown g.61780365C>T - BRIP1_000022 rs777741543 - DNA SEQ-NG 18-12-20 Genos 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 -- French/Italian/Spanish - - - 1 Lina Nuñez-Hospital Alemán
+?/+? 14 c.2038_2039del p.(Leu680Valfs*36) Hetero N/A r.(2038_2039del) - Unknown g.61776461_61776462del - BRIP1_000028 rs587778134 - DNA SEQ-NG, CNV 30-jan-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, Colon cancer, Multiple Myeloma Italian - - Breast cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
?/? 14 c.2087C>T p.(Pro696Leu) Hetero no r.(2087c>u) - Unknown g.61776411G>A - BRIP1_000027 rs147755155 - DNA SEQ-NG, CNV 24-apr-2023 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS Breast and Ovarian Cancer panel (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CDEKN2A, CHEK2, DICER1, FANCC, FANCM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, RINT1, SMARCA4, STK11, TP53, XRCC2. Multigenetic panel Breast cancer Croatian - Italian - - Breast cancer, Skin cancer 1 Nerina Anmuth-Sanatorio Parque
-/? 15 c.2220G>T p.(Gln740His) Hetero no r.(?) - Unknown g.61744469C>A - BRIP1_000004 - - DNA SEQ-NG, z-score-CNV 13-oct-2016 Héritas Panel Héritas (12 genes) - - Caucasian-Spanish - - - 1 Laura Vargas Roig-IMBECU
?/? 15 c.2220G>T p.(Gln740His) Hetero no r.(?) - Unknown g.61744469C>A - BRIP1_000004 - - DNA SEQ-NG 31-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 Breast cancer Spanish - - Breast cancer 1 Norma Rossi-Hospital de Córdoba
+/+ 17 c.2392C>T p.(Arg798*) Hetero N/A r.(?) - Unknown g.61716051G>A - BRIP1_000016 - - DNA CNV, SEQ-NG 15-may-2020 Fares Taie Panel 30 genes (APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, GREM1, MLH1, MSH2, MSH6, MUTYH, NBN, MTHL1, PABL2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53) Multigenetic panel Breast cancer Italian - (antec. ambos/explica cuadro) Breast cancer, Colon cancer, Pancreatic cancer 1 Silvina Sisterna-Hospital de Comunidad
+/+ 17 c.2392C>T p.(Arg798*) Hetero N/A r.(?) - Unknown g.61716051G>A - BRIP1_000016 - - DNA SEQ-NG 30-jun-2023 GENDA, 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 Prostate cancer Spanish/Spanish - - Prostate cancer 1 Jesica Ramirez-Hospital Central de Mendoza
?/? 18 c.2537A>C p.(Asp846Ala) Hetero no r.(?) - Unknown g.61693468T>G - BRIP1_000014 - - DNA CNV, SEQ-NG 24-jan-2020 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 Breast cancer Lithuanian-Argentinian - - Breast cancer 1 Claudia Martin-Hospital de Córdoba
-/-? 19 c.2637A>G p.(=) Hetero no r.(=) - Unknown g.61686104T>C - BRIP1_000001 - - DNA SEQ-NG 20-apr-2017 Dasa Genómica - Genia, INVITAE Invitae Breast Cancer Panel Multigenetic panel Breast cancer Syrian-Sephardic-Polish-Ashkenazi - - Breast cancer 1 Lina Nuñez-Private Practice
-/-? 19 c.2637A>G p.(=) Homo BRCA1 r.(=) - Unknown g.61686104T>C - BRIP1_000001 - - DNA SEQ-NG, z-score-CNV 23-may-2017 Héritas Panel Héritas (12 genes) - - Spanish - - - 1 Alejandra Mampel-Hospital Universitario de Mendoza
-/-? 19 c.2637A>G p.(=) Homo BRCA1 r.(=) - Unknown g.61686104T>C - BRIP1_000001 - - DNA SEQ-NG, z-score-CNV 21-jul-2017 Héritas - Multigenetic panel -- Caucasian - - - 1 Gonzalo Tabares-CEMA
-/-? 19 c.2637A>G p.(=) Homo no r.(=) - Unknown g.61686104T>C - BRIP1_000001 - - DNA SEQ-NG 19-jul-2017 Héritas Panel Héritas (12 genes) - -- Spanish - - - 1 Laura Vargas Roig-IMBECU
-/-? 19 c.2637A>G p.(=) Homo BRCA2 r.(=) - Unknown g.61686104T>C - BRIP1_000001 - - DNA CNV, SEQ-NG 26-sep-2018 IACA CNV in genes BRCA1, BRCA2, PALB2, RAD51D, RAD51C, TP53 Multigenetic panel Breast cancer Italian - (antec ambos/explica cuadro) Breast cancer, Ovarian cancer 1 Silvina Sisterna-Hospital de Comunidad
-/-? 19 c.2637A>G p.(=) Hetero no r.(=) - Unknown g.61686104T>C - BRIP1_000001 - - DNA SEQ-NG 27-sep-2019 Domeq&, Lafage - Multigenetic panel Pancreatic cancer Italian - - Breast cancer, Colon cancer, Ovarian cancer, Pancreatic cancer 1 Lina Nuñez-Private Practice
-/-? 19 c.2637A>G p.(=) Homo no r.(=) - Unknown g.61686104T>C - BRIP1_000001 - - DNA CNV, SEQ-NG 29-jul-2019 IACA - Multigenetic panel Breast cancer Argentinian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/-? 19 c.2637A>G p.(=) Hetero no r.(=) - Unknown g.61686104T>C - BRIP1_000001 - - DNA SEQ-NG 26-sep-2018 IACA CNV analysis of BRCA1, BRCA2, PALB2, RAD51D, RAD51C and TP53 Multigenetic panel Breast cancer Spanish-Argentinian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
./-? 19 c.2637A>G p.(=) Not specified no r.(=) - Unknown g.61686104T>C - BRIP1_000001 - - 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 - - Pancreatic cancer 1 Silvina Sisterna-Hospital de Comunidad
./-? 19 c.2637A>G p.(=) Not specified no r.(=) - Unknown g.61686104T>C - BRIP1_000001 - - 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 N/A Spanish-Lebanese - - Breast cancer, Pancreatic cancer 1 Silvina Sisterna-Hospital de Comunidad
./-? 19 c.2637A>G p.(=) Not specified no r.(=) - Unknown g.61686104T>C - BRIP1_000001 - - DNA CNV, SEQ-NG 26-dec-2019 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAND51C, RAD51D, STK11, TP53) Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
-/-? 19 c.2637A>G p.(=) Homo no r.(=) - Unknown g.61686104T>C - BRIP1_000001 - - DNA CNV, SEQ-NG 18-jun-2019 IACA - Multigenetic panel - Italian-Argentinian - - - 1 Silvina Sisterna-Hospital de Comunidad
-/-? 19 c.2637A>G p.(=) Hetero no r.(=) - Unknown g.61686104T>C - BRIP1_000001 - - 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 de Comunidad
./-? 19 c.2637A>G p.(=) Not specified ATM r.(=) - Unknown g.61686104T>C - BRIP1_000001 - - DNA CNV, SEQ-NG 4-oct-2019 IACA - Multigenetic panel Breast cancer Spanish-Italian-Argentinian - (antec personales/explica cuadro) Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/-? 19 c.2637A>G p.(=) Homo no r.(=) - Unknown g.61686104T>C - BRIP1_000001 - - DNA CNV, SEQ-NG 26-sep-2018 IACA CNV test of BRCA1, BRCA2, PALB2, RAD51D, RAD51C, TP53 Multigenetic panel - Russian-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./-? 19 c.2637A>G p.(=) Not specified no r.(=) - Unknown g.61686104T>C - BRIP1_000001 - - DNA CNV, SEQ-NG 9-dec-2019 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./-? 19 c.2637A>G p.(=) Not specified no r.(=) - Unknown g.61686104T>C - BRIP1_000001 - - DNA CNV, SEQ-NG 21-oct-2019 IACA - Multigenetic panel - Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
./-? 19 c.2637A>G p.(=) Homo no r.(=) - Unknown g.61686104T>C - BRIP1_000001 - - 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 - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/-? 19 c.2637A>G p.(=) Homo no r.(=) - Unknown g.61686104T>C - BRIP1_000001 - - DNA CNV, SEQ-NG 5-jul-2017 Héritas - Multigenetic panel - Argentinian - - - 1 Laura Vargas Roig-IMBECU
-/-? 19 c.2637A>G p.(=) Homo no r.(=) - Unknown g.61686104T>C - BRIP1_000001 - - DNA SEQ-NG 22-nov-2019 Biogenotec Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD51D, RAD51D, SMAD4, STK11, TP53, EPCAM) Multigenetic panel - Unknown - - - 1 Laura Vargas Roig-IMBECU
./-? 19 c.2637A>G p.(=) Homo no r.(=) - Unknown g.61686104T>C - BRIP1_000001 - - DNA CNV, SEQ-NG 21-may-2020 IACA Panel (ATM, BARD1, BRCA1/2, BRP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian-Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
./-? 19 c.2637A>G p.(=) Homo no r.(=) - Unknown g.61686104T>C - BRIP1_000001 - - 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 de Comunidad
./-? 19 c.2637A>G p.(=) Homo no r.(=) - Unknown g.61686104T>C - BRIP1_000001 - - DNA CNV, SEQ-NG 15-jul-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 - - - 1 Silvina Sisterna-Hospital de Comunidad
./-? 19 c.2637A>G p.(=) Homo no r.(=) - Unknown g.61686104T>C - BRIP1_000001 - - DNA CNV, SEQ-NG 15-jul-2020 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./-? 19 c.2637A>G p.(=) Homo BRCA2 r.(=) - Unknown g.61686104T>C - BRIP1_000001 - - DNA CNV, SEQ-NG 13-may-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Brazilian-Italian-German - (antec. ambos/explica cuadro) Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
./-? 19 c.2637A>G p.(=) Hetero no r.(=) - Unknown g.61686104T>C - BRIP1_000001 - - DNA CNV, SEQ-NG 28-apr-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Polish-Italian-German-Russian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/-? 19 c.2637A>G p.(=) Homo no r.(=) - Unknown g.61686104T>C - BRIP1_000001 - - DNA CNV, SEQ-NG 27-nov-2019 Invitae (deriv. Genesia) Invitae Multi-Cancer Panel (84 genes) Multigenetic panel Colon cancer Spanish-Italian - - Colon cancer 1 Lina Nuñez-Private Practice
-?/- 19 c.2637A>G p.(=) Hetero no r.(=) RECLASSIFIED NOVEMBER 2020 Unknown g.61686104T>C - BRIP1_000001 - - DNA CNV, SEQ-NG 13-may-2020 IACA Panel (ATM, BARD1, BRCA1/2, BRIP1, CDH1, CHEK2. EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian-Basque-French - - - 1 Silvina Sisterna-Hospital de Comunidad
+/+ 19 c.2684_2687del p.(Ser895*) Hetero N/A r.? - Unknown g.61686056_61686059del - BRIP1_000030 rs760551339 - DNA SEQ-NG 04-apr-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, Endometrial cancer Italian - Spanish - - Breast cancer, Endometrial cancer 1 Guillermo Alberto-Instituto Fleming
-/-? 19 c.2755T>C p.(Ser919Pro) Homo no r.(?) - Unknown g.61685986A>G - BRIP1_000002 - - DNA SEQ-NG 20-apr-2017 Dasa Genómica - Genia, INVITAE Invitae Breast Cancer Panel Multigenetic panel Breast cancer Syrian-Sephardic-Polish-Ashkenazi - - Breast cancer 1 Lina Nuñez-Private Practice
-/-? 19 c.2755T>C p.(Ser919Pro) Hetero BRCA1 r.(?) - Unknown g.61685986A>G - BRIP1_000002 - - DNA SEQ-NG, z-score-CNV 23-may-2017 Héritas Panel Héritas (12 genes) - - Spanish - - - 1 Alejandra Mampel-Hospital Universitario de Mendoza
-/-? 19 c.2755T>C p.(Ser919Pro) Homo no r.(?) - Unknown g.61685986A>G - BRIP1_000002 - - DNA SEQ-NG, z-score-CNV 13-oct-2016 Héritas Panel Héritas (12 genes) - - Caucasian-Spanish - - - 1 Laura Vargas Roig-IMBECU
-/-? 19 c.2755T>C p.(Ser919Pro) Hetero BRCA1 r.(?) - Unknown g.61685986A>G - BRIP1_000002 - - DNA SEQ-NG, z-score-CNV 21-jul-2017 Héritas - Multigenetic panel -- Caucasian - - - 1 Gonzalo Tabares-CEMA
-/-? 19 c.2755T>C p.(Ser919Pro) Homo BRCA2 r.(?) - Unknown g.61685986A>G - BRIP1_000002 - - DNA SEQ-NG, z-score-CNV 22-oct-2017 Héritas - Multigenetic panel - Italian - - - 1 Gonzalo Tabares-CEMA
-/-? 19 c.2755T>C p.(Ser919Pro) Hetero no r.(?) - Unknown g.61685986A>G - BRIP1_000002 - - DNA SEQ-NG 19-jul-2017 Héritas Panel Héritas (12 genes) - -- Spanish - - - 1 Laura Vargas Roig-IMBECU
-/-? 19 c.2755T>C p.(Ser919Pro) Homo BRCA2 r.(?) - Unknown g.61685986A>G - BRIP1_000002 - - DNA CNV, SEQ-NG 26-sep-2018 IACA CNV in genes BRCA1, BRCA2, PALB2, RAD51D, RAD51C, TP53 Multigenetic panel Breast cancer Italian - (antec ambos/explica cuadro) Breast cancer, Ovarian cancer 1 Silvina Sisterna-Hospital de Comunidad
-/-? 19 c.2755T>C p.(Ser919Pro) Hetero no r.(?) - Unknown g.61685986A>G - BRIP1_000002 - - DNA SEQ-NG 27-sep-2019 Domeq&, Lafage - Multigenetic panel Pancreatic cancer Italian - - Breast cancer, Colon cancer, Ovarian cancer, Pancreatic cancer 1 Lina Nuñez-Private Practice
-/-? 19 c.2755T>C p.(Ser919Pro) Homo no r.(?) - Unknown g.61685986A>G - BRIP1_000002 - - DNA CNV, SEQ-NG 29-jul-2019 IACA - Multigenetic panel Breast cancer Argentinian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/-? 19 c.2755T>C p.(Ser919Pro) Hetero no r.(?) - Unknown g.61685986A>G - BRIP1_000002 - - DNA SEQ-NG 26-sep-2018 IACA CNV analysis of BRCA1, BRCA2, PALB2, RAD51D, RAD51C and TP53 Multigenetic panel Breast cancer Spanish-Argentinian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
./-? 19 c.2755T>C p.(Ser919Pro) Not specified no r.(?) - Unknown g.61685986A>G - BRIP1_000002 - - 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 - - Pancreatic cancer 1 Silvina Sisterna-Hospital de Comunidad
./-? 19 c.2755T>C p.(Ser919Pro) Not specified no r.(?) - Unknown g.61685986A>G - BRIP1_000002 - - 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 N/A Spanish-Lebanese - - Breast cancer, Pancreatic cancer 1 Silvina Sisterna-Hospital de Comunidad
-/-? 19 c.2755T>C p.(Ser919Pro) Hetero no r.(?) - Unknown g.61685986A>G - BRIP1_000002 - - DNA CNV, SEQ-NG 18-jun-2019 IACA - Multigenetic panel - Italian-Argentinian - - - 1 Silvina Sisterna-Hospital de Comunidad
-/-? 19 c.2755T>C p.(Ser919Pro) Hetero no r.(?) - Unknown g.61685986A>G - BRIP1_000002 - - 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 de Comunidad
./-? 19 c.2755T>C p.(Ser919Pro) Not specified ATM r.(?) - Unknown g.61685986A>G - BRIP1_000002 - - DNA CNV, SEQ-NG 4-oct-2019 IACA - Multigenetic panel Breast cancer Spanish-Italian-Argentinian - (antec personales/explica cuadro) Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/-? 19 c.2755T>C p.(Ser919Pro) Homo no r.(?) - Unknown g.61685986A>G - BRIP1_000002 - - DNA CNV, SEQ-NG 26-sep-2018 IACA CNV test of BRCA1, BRCA2, PALB2, RAD51D, RAD51C, TP53 Multigenetic panel - Russian-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./-? 19 c.2755T>C p.(Ser919Pro) Not specified no r.(?) - Unknown g.61685986A>G - BRIP1_000002 - - DNA CNV, SEQ-NG 9-dec-2019 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./-? 19 c.2755T>C p.(Ser919Pro) Not specified no r.(?) - Unknown g.61685986A>G - BRIP1_000002 - - DNA CNV, SEQ-NG 21-oct-2019 IACA - Multigenetic panel - Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
./-? 19 c.2755T>C p.(Ser919Pro) Homo no r.(?) - Unknown g.61685986A>G - BRIP1_000002 - - 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 - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/-? 19 c.2755T>C p.(Ser919Pro) Homo no r.(?) - Unknown g.61685986A>G - BRIP1_000002 - - DNA CNV, SEQ-NG 5-jul-2017 Héritas - Multigenetic panel - Argentinian - - - 1 Laura Vargas Roig-IMBECU
-/-? 19 c.2755T>C p.(Ser919Pro) Hetero no r.(?) - Unknown g.61685986A>G - BRIP1_000002 - - DNA SEQ-NG 22-nov-2019 Biogenotec Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD51D, RAD51D, SMAD4, STK11, TP53, EPCAM) Multigenetic panel - Unknown - - - 1 Laura Vargas Roig-IMBECU
./-? 19 c.2755T>C p.(Ser919Pro) Hetero no r.(?) - Unknown g.61685986A>G - BRIP1_000002 - - DNA CNV, SEQ-NG 21-may-2020 IACA Panel (ATM, BARD1, BRCA1/2, BRP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian-Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
./-? 19 c.2755T>C p.(Ser919Pro) Homo no r.(?) - Unknown g.61685986A>G - BRIP1_000002 - - 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 de Comunidad
./-? 19 c.2755T>C p.(Ser919Pro) Homo no r.(?) - Unknown g.61685986A>G - BRIP1_000002 - - DNA CNV, SEQ-NG 15-jul-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 - - - 1 Silvina Sisterna-Hospital de Comunidad
./-? 19 c.2755T>C p.(Ser919Pro) Homo no r.(?) - Unknown g.61685986A>G - BRIP1_000002 - - DNA CNV, SEQ-NG 15-jul-2020 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./-? 19 c.2755T>C p.(Ser919Pro) Homo BRCA2 r.(?) - Unknown g.61685986A>G - BRIP1_000002 - - DNA CNV, SEQ-NG 13-may-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Brazilian-Italian-German - (antec. ambos/explica cuadro) Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/-? 19 c.2755T>C p.(Ser919Pro) Homo no r.(?) - Unknown g.61685986A>G - BRIP1_000002 - - DNA CNV, SEQ-NG 27-nov-2019 Invitae (deriv. Genesia) Invitae Multi-Cancer Panel (84 genes) Multigenetic panel Colon cancer Spanish-Italian - - Colon cancer 1 Lina Nuñez-Private Practice
-?/- 19 c.2755T>C p.(Ser919Pro) Hetero no r.(?) RECLASSIFIED NOVEMBER 2020 Unknown g.61685986A>G - BRIP1_000002 - - DNA CNV, SEQ-NG 13-may-2020 IACA Panel (ATM, BARD1, BRCA1/2, BRIP1, CDH1, CHEK2. EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian-Basque-French - - - 1 Silvina Sisterna-Hospital de Comunidad
?/? 19 c.2801T>C p.(Phe934Ser) Hetero BARD1 r.(2801u>c) - Unknown g.61685940A>G - BRIP1_000024 rs778916092 - DNA SEQ-NG 19-01-23 Hospital Privado Centro Médico de Córdoba Breast and Ovarian Cancer panel (30 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53 Multigenetic panel Breast cancer unknown - - Breast cancer 1 Emilia Maldonado-Hospital de Córdoba
-?/- 20 c.2937A>G p.(=) Hetero no r.(=) RECLASSIFIED JULY 2022 Unknown g.61684109T>C - BRIP1_000006 - - DNA SEQ-NG, z-score-CNV 23-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 Multigenetic panel -- Caucasian - - - 1 Gonzalo Tabares-CEMA
+?/+? 20 c.2990_2993del p.Thr997ArgfsTer61 Hetero no r.(2990_2993del) - Unknown g.61684055TGTT[2] - BRIP1_000023 rs771028677 - DNA SEQ-NG 27-04-21 Biogenotec BRCA1, BRCA2, ATM, PTEN, CHEK2, STK11, TP53, CDH1, BRIP1 Specific pathology Breast cancer Argentinean/Chilean/Spanish - Argentinean - - Breast cancer, Ovarian cancer 1 Laura Vargas Roig-IMBECU
+/+ 20 c.2992_2993del p.(Lys998Glufs*3) Hetero N/A r.(2992_2993del) - Unknown g.61684054_61684055del - BRIP1_000025 rs878855151 - DNA SEQ-NG 27-jul-2023 GENOS hereditary cancer panel (163 genes) Multigenetic panel Colon cancer Spanish/German - - Colon cancer, Pancreatic cancer 1 Pablo Kalfayan-Hospital Italiano
?/? 20 c.3056C>T p.(Ala1019Val) Hetero no r.? - Unknown g.61683990G>A - BRIP1_000033 rs1555572884 - DNA SEQ-NG 17-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 Breast cancer Italian - Spanish - - Breast cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
-/-? 20 c.3411T>C p.(=) Homo no r.(=) - Unknown g.61683635A>G - BRIP1_000003 - - DNA SEQ-NG 20-apr-2017 Dasa Genómica - Genia, INVITAE Invitae Breast Cancer Panel Multigenetic panel Breast cancer Syrian-Sephardic-Polish-Ashkenazi - - Breast cancer 1 Lina Nuñez-Private Practice
-/-? 20 c.3411T>C p.(=) Hetero BRCA1 r.(=) - Unknown g.61683635A>G - BRIP1_000003 - - DNA SEQ-NG, z-score-CNV 23-may-2017 Héritas Panel Héritas (12 genes) - - Spanish - - - 1 Alejandra Mampel-Hospital Universitario de Mendoza
-/-? 20 c.3411T>C p.(=) Hetero BRCA1 r.(=) - Unknown g.61683635A>G - BRIP1_000003 - - DNA SEQ-NG, z-score-CNV 21-jul-2017 Héritas - Multigenetic panel -- Caucasian - - - 1 Gonzalo Tabares-CEMA
-/-? 20 c.3411T>C p.(=) Hetero no r.(=) - Unknown g.61683635A>G - BRIP1_000003 - - DNA SEQ-NG 19-jul-2017 Héritas Panel Héritas (12 genes) - -- Spanish - - - 1 Laura Vargas Roig-IMBECU
-/-? 20 c.3411T>C p.(=) Homo BRCA2 r.(=) - Unknown g.61683635A>G - BRIP1_000003 - - DNA CNV, SEQ-NG 26-sep-2018 IACA CNV in genes BRCA1, BRCA2, PALB2, RAD51D, RAD51C, TP53 Multigenetic panel Breast cancer Italian - (antec ambos/explica cuadro) Breast cancer, Ovarian cancer 1 Silvina Sisterna-Hospital de Comunidad
-/-? 20 c.3411T>C p.(=) Hetero no r.(=) - Unknown g.61683635A>G - BRIP1_000003 - - DNA SEQ-NG 27-sep-2019 Domeq&, Lafage - Multigenetic panel Pancreatic cancer Italian - - Breast cancer, Colon cancer, Ovarian cancer, Pancreatic cancer 1 Lina Nuñez-Private Practice
-/-? 20 c.3411T>C p.(=) Homo no r.(=) - Unknown g.61683635A>G - BRIP1_000003 - - DNA CNV, SEQ-NG 29-jul-2019 IACA - Multigenetic panel Breast cancer Argentinian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/-? 20 c.3411T>C p.(=) Hetero no r.(=) - Unknown g.61683635A>G - BRIP1_000003 - - DNA SEQ-NG 26-sep-2018 IACA CNV analysis of BRCA1, BRCA2, PALB2, RAD51D, RAD51C and TP53 Multigenetic panel Breast cancer Spanish-Argentinian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
./-? 20 c.3411T>C p.(=) Not specified no r.(=) - Unknown g.61683635A>G - BRIP1_000003 - - 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 - - Pancreatic cancer 1 Silvina Sisterna-Hospital de Comunidad
./-? 20 c.3411T>C p.(=) Not specified no r.(=) - Unknown g.61683635A>G - BRIP1_000003 - - 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 N/A Spanish-Lebanese - - Breast cancer, Pancreatic cancer 1 Silvina Sisterna-Hospital de Comunidad
-/-? 20 c.3411T>C p.(=) Hetero no r.(=) - Unknown g.61683635A>G - BRIP1_000003 - - DNA CNV, SEQ-NG 18-jun-2019 IACA - Multigenetic panel - Italian-Argentinian - - - 1 Silvina Sisterna-Hospital de Comunidad
-/-? 20 c.3411T>C p.(=) Hetero no r.(=) - Unknown g.61683635A>G - BRIP1_000003 - - 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 de Comunidad
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