Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility

Breast Cancer Research and Treatment

Volumn 130, Issue 3, 2011, Pages 1003-1010

  Vuorela, Mikko ^a   Pylkäs, Katri ^a   Hartikainen, Jaana M ^b,c   Sundfeldt, Karin ^d   Lindblom, Annika ^e   Von Wachenfeldt Wäppling, Anna ^f   Haanpää, Maria ^a   Puistola, Ulla ^a   Rosengren, Annika ^g   Anttila, Maarit ^c   Kosma, Veli Matti ^b,c   Mannermaa, Arto ^b,c   Winqvist, Robert ^a  

^a UNIVERSITY OF OULU   (Finland)

^b UNIVERSITY OF EASTERN FINLAND   (Finland)

^c KUOPIO UNIVERSITY HOSPITAL   (Finland)

^d SAHLGRENSKA ACADEMY AT UNIVERSITY OF GOTHENBURG   (Sweden)

^e KAROLINSKA INSTITUTE   (Sweden)

^f KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^g UNIVERSITY OF GOTHENBURG   (Sweden)

Author keywords

Germline mutation; Hereditary breast and ovarian cancer susceptibility; RAD51C

Indexed keywords

THYMINE;

ADULT; ALLELE; ARTICLE; BREAST CANCER; CANCER RISK; CANCER SUSCEPTIBILITY; COHORT ANALYSIS; CONTROLLED STUDY; FAMILIAL CANCER; FEMALE; FINLAND; GENE; GENE DELETION; GENE LOCATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OVARY CANCER; POPULATION GENETICS; PRIORITY JOURNAL; RAD51C GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SWEDEN;

ADOLESCENT; ADULT; AGED; ALLELES; BASE SEQUENCE; BREAST NEOPLASMS; CHILD; CHILD, PRESCHOOL; DNA-BINDING PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; MIDDLE AGED; OVARIAN NEOPLASMS; PEDIGREE; YOUNG ADULT;

EID: 82255186379     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-011-1677-x     Document Type: Article

References (23)

1. AC Antoniou PD Pharoah G McMullan NE Day MR Stratton J Peto BJ Ponder DF Easton 2002 A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes Br J Cancer 86 76 83 11857015 10.1038/sj.bjc. 6600008 1:STN:280:DC%2BD387isV2jtw%3D%3D (Pubitemid 34146344)
2. H Erkko B Xia J Nikkilä J Schleutker K Syrjäkoski A Mannermaa A Kallioniemi K Pylkäs SM Karppinen K Rapakko A Miron Q Sheng G Li H Mattila DW Bell DA Haber M Grip M Reiman A Jukkola-Vuorinen A Mustonen J Kere LA Aaltonen VM Kosma V Kataja Y Soini RI Drapkin DM Livingston R Winqvist 2007 A recurrent mutation in PALB2 in Finnish cancer families Nature 446 316 319 17287723 10.1038/nature05609 1:CAS:528:DC%2BD2sXivVSns78%3D (Pubitemid 46426155)
3. T Walsh MC King 2007 Ten genes for inherited breast cancer Cancer Cell 11 103 105 17292821 10.1016/j.ccr.2007.01.010 1:CAS:528:DC%2BD2sXitVartLw%3D (Pubitemid 46209856)
4. NG Howlett T Taniguchi S Olson B Ox Q Waisfisz C De Die-Smulders N Persky M Grompe H Joenje G Pals H Ikeda EA Fox AD D'Andrea 2002 Biallelic inactivation of BRCA2 in Fanconi anemia Science 297 606 609 12065746 10.1126/science.1073834 1:CAS:528:DC%2BD38XlslWrs7k%3D (Pubitemid 34815345)
5. E Levy-Lahad 2010 Fanconi anemia and breast cancer susceptibility meet again Nat Genet 42 368 369 20428093 10.1038/ng0510-368 1:CAS:528: DC%2BC3cXlt1OlsL0%3D
6. F Vaz H Hanenberg B Schuster K Barker C Wiek V Erven K Neveling D Endt I Kesterton F Autore F Fraternali M Freund L Hartmann D Grimwade RG Roberts H Schaal S Mohammed N Rahman D Schindler CG Mathew 2010 Mutation of the RAD51C gene in a Fanconi anemia-like disorder Nat Genet 42 406 409 20400963 10.1038/ng.570 1:CAS:528:DC%2BC3cXkvVCjt7k%3D
7. A Meindl H Hellebrand C Wiek V Erven B Wappenschmidt D Niederacher M Freund P Lichtner L Hartmann H Schaal J Ramser E Honisch C Kubisch HE Wichmann K Kast H Deissler C Engel B Muller-Myhsok K Neveling M Kiechle CG Mathew D Schindler RK Schmutzler H Hanenberg 2010 Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene Nat Genet 42 410 414 20400964 10.1038/ng.569 1:CAS:528:DC%2BC3cXkvVCjtbo%3D
8. JY Masson AZ Stasiak A Stasiak FE Benson SC West 2001 Complex formation by the human RAD51C and XRCC3 recombination repair proteins Proc Natl Acad Sci USA 98 8440 8446 11459987 10.1073/pnas.111005698 1:CAS:528:DC%2BD3MXls1Wis7c%3D (Pubitemid 32678047)
9. JY Masson MC Tarsounas AZ Stasiak A Stasiak R Shah MJ McIlwraith FE Benson SC West 2001 Identification and purification of two distinct complexes containing the five RAD51 paralogs Genes Dev 15 3296 3307 11751635 10.1101/gad.947001 1:CAS:528:DC%2BD38XivFyrsg%3D%3D (Pubitemid 34008194)
10. Y Liu JY Masson R Shah P O'Regan SC West 2004 RAD51C is required for Holliday junction processing in mammalian cells Science 303 243 246 14716019 10.1126/science.1093037 1:CAS:528:DC%2BD2cXhtlGhtQ%3D%3D (Pubitemid 38057577)
11. GL Moldovan AD D'Andrea 2009 How the Fanconi anemia pathway guards the genome Annu Rev Genet 43 223 249 19686080 10.1146/annurev-genet-102108-134222 1:CAS:528:DC%2BD1MXhsF2qtrnO
12. S Seal D Thompson A Renwick A Elliott P Kelly R Barfoot T Chagtai H Jayatilake M Ahmed K Spanova B North L McGuffog DG Evans D Eccles Breast Cancer Susceptibility Collaboration (UK) DF Easton MR Stratton N Rahman 2006 Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles Nat Genet 38 1239 1241 17033622 10.1038/ng1902 1:CAS:528:DC%2BD28XhtFeisbjJ (Pubitemid 44646283)
13. P Huusko K Pääkkönen V Launonen M Pöyhönen G Blanco A Kauppila U Puistola H Kiviniemi M Kujala J Leisti R Winqvist 1998 Evidence of founder mutations in Finnish BRCA1 and BRCA2 families Am J Hum Genet 62 1544 1548 9585608 10.1086/301880 1:CAS:528:DyaK1cXlslChsrY%3D (Pubitemid 28307128)
14. JM Hartikainen H Tuhkanen V Kataja M Eskelinen M Uusitupa VM Kosma A Mannermaa 2006 Refinement of the 22q12-q13 breast cancer-associated region: evidence of TMPRSS6 as a candidate gene in an eastern Finnish population Clin Cancer Res 12 1454 1462 16533768 10.1158/1078-0432.CCR-05-1417 1:CAS:528:DC%2BD28XitVGmsrg%3D
15. S Kumar M Nei J Dudley K Tamura 2008 MEGA: a biologist-centric software for evolutionary analysis of DNA and protein sequences Brief Bioinform 9 299 306 18417537 10.1093/bib/bbn017 1:CAS:528:DC%2BD1cXpt1artrg%3D (Pubitemid 351890826)
16. HA Shih KL Nathanson S Seal N Collins MR Stratton TR Rebbeck BL Weber 2000 BRCA1 and BRCA2 mutations in breast cancer families with multiple primary cancers Clin Cancer Res 6 4259 4264 11106241 1:CAS:528:DC%2BD3cXovVSgtbc%3D
17. MR Akbari P Tonin WD Foulkes P Ghadirian M Tischkowitz SA Narod 2010 RAD51C germline mutations in breast and ovarian cancer patients Breast Cancer Res 12 404 20723205 10.1186/bcr2619
18. Zheng Y, Zhang J, Hope K, Niu Q, Huo D, Olopade OI (2010) Screening RAD51C nucleotide alterations in patients with a family history of breast and ovarian cancer. Breast Cancer Res Treat 124:857-861
19. V Silvestri P Rizzolo M Falchetti I Zanna G Masala D Palli L Ottini 2011 Mutation screening of RAD51C in male breast cancer patients Breast Cancer Res 13 404 21392410
20. Wong MW, Nordfors C, Mossman D Pecenpetelovska G, Avery-Kiejda KA, Talseth-Palmer B, Bowden NA, Scott RJ (2011) BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer. Breast Cancer Res Treat 127:853-859
21. Pang Z, Yao L, Zhang J, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y (2011) RAD51C germline mutations in Chinese women with familial breast cancer. Breast Cancer Res Treat [Epub ahead of print]
22. Romero A, Perez-Segura P, Tosar A Garcia-Saenz JA, Diaz-Rubio E, Caldes 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 [Epub ahead of print]
23. CA French CE Tambini J Thacker 2003 Identification of functional domains in the RAD51L2 (RAD51C) protein and its requirement for gene conversion J Biol Chem 278 45445 45450 12966089 10.1074/jbc.M308621200 1:CAS:528: DC%2BD3sXosl2jtL8%3D (Pubitemid 37432682)