RAD51C germline mutations in breast and ovarian cancer cases from high-risk families

PLoS ONE

Volumn 6, Issue 9, 2011, Pages

  Clague, Jessica ^a   Wilhoite, Greg ^a   Adamson, Aaron ^a   Bailis, Adam ^a   Weitzel, Jeffrey N ^a   Neuhausen, Susan L ^a  

^a CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; DNA; PROTEIN G153D; PROTEIN R214C; PROTEIN RAD51B; PROTEIN RAD51C; TUMOR PROTEIN; UNCLASSIFIED DRUG; XRCC3 PROTEIN; BRCA1 PROTEIN; BRCA2 PROTEIN; DNA BINDING PROTEIN; RAD51C PROTEIN, HUMAN;

5' UNTRANSLATED REGION; ADULT; AGED; ARTICLE; BREAST CANCER; CONTROLLED STUDY; DNA SEQUENCE; FAMILY; FAMILY HISTORY; FEMALE; GENE MUTATION; GENE SEQUENCE; HIGH RISK POPULATION; HUMAN; IMMUNOBLOTTING; MAJOR CLINICAL STUDY; OVARY CANCER; PATHOGENICITY; PEDIGREE; PROMOTER REGION; PROTEIN INTERACTION; RAD51C GENE; TUMOR GENE; TUMOR SUPPRESSOR GENE; GENETIC PREDISPOSITION; GENETICS; GERM CELL; HEREDITARY BREAST AND OVARIAN CANCER SYNDROME; MALE; METABOLISM; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE;

ADULT; AGED; BRCA1 PROTEIN; BRCA2 PROTEIN; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERM CELLS; HEREDITARY BREAST AND OVARIAN CANCER SYNDROME; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE;

EID: 80053259851     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0025632     Document Type: Article

References (21)

1. Jemal A, Siegel R, Xu J, Ward E, (2010) Cancer Statistics, 2010. CA Cancer J Clin 60.
2. Fackenthal JD, Olopade OI, (2007) Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations. Nat Rev Cancer 7: 937-948.
3. Sowter HM, Ashworth A, (2005) BRCA1 and BRCA2 as ovarian cancer susceptibility genes. Carcinogenesis 26: 1651-1656.
4. Walsh T, King MC, (2007) Ten genes for inherited breast cancer. Cancer Cell 11: 103-105.
5. Meindl A, Hellebrand H, Wiek C, Erven V, Wappenschmidt B, et al. (2010) Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet 42: 410-414.
6. Vaz F, Hanenberg H, Schuster B, Barker K, Wiek C, et al. (2010) Mutation of the RAD51C gene in a Fanconi anemia-like disorder. Nat Genet 42: 406-409.
7. Romero A, Perez-Segura P, Tosar A, Garcia-Saenz JA, Diaz-Rubio E, et al. (2011) A HRM-based screening method detects RAD51C germ-line deleterious mutations in Spanish breast and ovarian cancer families. Breast Cancer Res Treat.
8. Vuorela M, Pylkas K, Hartikainen JM, Sundfeldt K, Lindblom A, et al. (2011) Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility. Breast Cancer Res Treat.
9. Pang Z, Yao L, Zhang J, Ouyang T, Li J, et al. (2011) RAD51C germline mutations in Chinese women with familial breast cancer. Breast Cancer Res Treat.
10. Pelttari LM, Heikkinen T, Thompson D, Kallioniemi A, Schleutker J, et al. (2011) RAD51C is a susceptibility gene for ovarian cancer. Hum Mol Genet 20: 3278-3288.
11. Akbari MR, Tonin P, Foulkes WD, Ghadirian P, Tischkowitz M, et al. (2010) RAD51C germline mutations in breast and ovarian cancer patients. Breast Cancer Res 12: 404.
12. Zheng Y, Zhang J, Hope K, Niu Q, Huo D, et al. (2010) Screening RAD51C nucleotide alterations in patients with a family history of breast and ovarian cancer. Breast Cancer Res Treat.
13. Kurumizaka H, Enomoto R, Nakada M, Eda K, Yokoyama S, et al. (2003) Region and amino acid residues required for Rad51C binding in the human Xrcc3 protein. Nucleic Acids Res 31: 4041-4050.
14. Miller KA, Sawicka D, Barsky D, Albala JS, (2004) Domain mapping of the Rad51 paralog protein complexes. Nucleic Acids Res 32: 169-178.
15. Masson JY, Stasiak AZ, Stasiak A, Benson FE, West SC, (2001) Complex formation by the human RAD51C and XRCC3 recombination repair proteins. Proc Natl Acad Sci U S A 98: 8440-8446.
16. Miller KA, Yoshikawa DM, McConnell IR, Clark R, Schild D, et al. (2002) RAD51C interacts with RAD51B and is central to a larger protein complex in vivo exclusive of RAD51. J Biol Chem 277: 8406-8411.
17. Schild D, Lio YC, Collins DW, Tsomondo T, Chen DJ, (2000) Evidence for simultaneous protein interactions between human Rad51 paralogs. J Biol Chem 275: 16443-16449.
18. Thacker J, (2005) The RAD51 gene family, genetic instability and cancer. Cancer Lett 219: 125-135.
19. Smeenk G, de Groot AJ, Romeijn RJ, van Buul PP, Zdzienicka MZ, et al. (2010) Rad51C is essential for embryonic development and haploinsufficiency causes increased DNA damage sensitivity and genomic instability. Mutat Res 689: 50-58.
20. Barlund M, Monni O, Kononen J, Cornelison R, Torhorst J, et al. (2000) Multiple genes at 17q23 undergo amplification and overexpression in breast cancer. Cancer Res 60: 5340-5344.
21. Hampton OA, Den Hollander P, Miller CA, Delgado DA, Li J, et al. (2009) A sequence-level map of chromosomal breakpoints in the MCF-7 breast cancer cell line yields insights into the evolution of a cancer genome. Genome Res 19: 167-177.