Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families

British Journal of Cancer

Volumn 106, Issue 8, 2012, Pages 1460-1463

  Osher, D J ^a,b   De Leeneer, K ^c   Michils, G ^d   Hamel, N ^a,b   Tomiak, E ^e,f   Poppe, B ^c   Leunen, K ^g   Legius, E ^d   Shuen, A ^a,b   Smith, E ^e   Arseneau, J ^b   Tonin, P ^a   Matthijs, G ^d   Claes, K ^c   Tischkowitz, M D ^a,h   Foulkes, W D ^a,b,h  

^a MCGILL UNIVERSITY   (Canada)

^b MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^c GHENT UNIVERSITY HOSPITAL   (Belgium)

^d UNIVERSITY OF LEUVEN   (Belgium)

^e CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^f UNIVERSITY OF OTTAWA   (Canada)

^g UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^h MCGILL UNIVERSITY   (Canada)

Author keywords

double strand DNA repair; hereditary; ovarian carcinoma; PARP inhibitors; RAD51C; RAD51D

Indexed keywords

ARGININE; BRCA1 PROTEIN; BRCA2 PROTEIN;

ALLELE; ARTICLE; CONTROLLED STUDY; FAMILY HISTORY; FEMALE; GENE; GENE DELETION; GENE SEGREGATION; GENETIC CODE; HEREDITARY BREAST AND OVARIAN CANCER SYNDROME; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; OVARY CARCINOMA; PRIORITY JOURNAL; RAD51D GENE; WILD TYPE;

BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GENETIC TESTING; HUMANS; MUTATION; OVARIAN NEOPLASMS; PEDIGREE; SENSITIVITY AND SPECIFICITY;

EID: 84859649798     PISSN: 00070920     EISSN: 15321827     Source Type: Journal    
DOI: 10.1038/bjc.2012.87     Document Type: Article

References (10)

1. Banerjee S, Kaye SB, Ashworth A (2010) Making the best of PARP inhibitors in ovarian cancer. Nat Rev Clin Oncol 7(9): 508-519
2. Cancer Genome Atlas Research Network (2011) Integrated genomic analyses of ovarian carcinoma. Nature 474(7353): 609-615
3. Gayther SA, Russell P, Harrington P, Antoniou AC, Easton DF, Ponder BA (1999) The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes. Am J Hum Genet 65(4): 1021-1029 (Pubitemid 30462958)
4. Loveday C, Turnbull C, Ramsay E, Hughes D, Ruark E, Frankum JR, Bowden G, Kalmyrzaev B, Warren-Perry M, Snape K, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L, Eccles D, Evans DG, Renwick A, Seal S, Lord CJ, Ashworth A, Reis-Filho JS, Antoniou AC, Rahman N (2011) Germline mutations in RAD51D confer susceptibility to ovarian cancer. Nat Genet 43(9): 879-882
5. Meindl A, Hellebrand H, Wiek C, Erven V, Wappenschmidt B, Niederacher D, Freund M, Lichtner P, Hartmann L, Schaal H, Ramser J, Honisch E, Kubisch C, Wichmann HE, Kast K, Deissler H, Engel C, Müller-Myhsok B, Neveling K, Kiechle M, Mathew CG, Schindler D, Schmutzler RK, Hanenberg H (2010) Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet 42(5): 410-414
6. Pelttari LM, Heikkinen T, Thompson D, Kallioniemi A, Schleutker J, Holli K, Blomqvist C, Aittomaki K, Butzow R, Nevanlinna H (2011) RAD51C is a susceptibility gene for ovarian cancer. Hum Mol Genet 20(16): 3278-3288
7. Romero A, Pérez-Segura P, Tosar A, García-Saenz JA, Díaz-Rubio E, Caldés T, de la Hoya M (2011) A HRM-based screening method detects RAD51C germ-line deleterious mutations in Spanish breast and ovarian cancer families. Breast Cancer Res Treat 129(3): 939-946
8. Shuen AY, Foulkes WD (2011) Inherited mutations in breast cancer genes - risk and response. J Mammary Gland Biol Neoplasia 16(1): 3-15
9. Thompson ER, Boyle SE, Johnson J, Ryland GL, Sawyer S, Choong DY, kConFab, Chenevix-Trench G, Trainer AH, Lindeman GJ, Mitchell G, James PA, Campbell IG (2012) Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients. Hum Mutat 33(1): 95-99
10. Vuorela M, Pylkäs K, Hartikainen JM, Sundfeldt K, Lindblom A, von Wachenfeldt Wäppling A, Haanpää M, Puistola U, Rosengren A, Anttila M, Kosma VM, Mannermaa A, Winqvist R (2011) Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility. Breast Cancer Res Treat 130(3): 1003-1010