Novak DJ, Sabbaghian N, Maillet P, Chappuis PO, Foulkes WD, Tischkowitz M.. Analysis of the genes coding for the BRCA1-interacting proteins, RAP80 and abraxas (CCDC98), in high-risk, non-BRCA1/2, multiethnic breast cancer cases. Breast Cancer Res Treat. 10.1007/s10549-008-0134-y

Departments of Oncology and Human Genetics, Program in Cancer Genetics, McGill University, Montreal, QC, Canada H2W 1S6.
Breast Cancer Research and Treatment (Impact Factor: 3.94). 09/2008; 117(2):453-9. DOI: 10.1007/s10549-008-0134-y
Source: PubMed


Background Around half of familial breast cancer cases are caused by germ-line mutations in genes which are critically involved in the maintenance of genome stability. Mutations in related genes functioning in DNA repair may account for currently unattributed cases. Two such genes, RAP80 and Abraxas, have recently been identified to be in a complex with BRCA1, and are required for the localization of BRCA1 to DNA damage foci. Methods RAP80 and Abraxas variants were screened for in a cohort of 95 high risk, non-BRCA1/2 breast cancer cases of varying ethnicity: those of Ashkenazi Jewish (n = 35), mixed Canadian (n = 34) and Swiss descent (n = 26). Results We have identified four missense variants, four silent SNPs, three SNPs in the UTRs and seven intronic variants in RAP80. Two of the previously reported RAP80 variants were further investigated. In Abraxas, we have identified two missense, nine intronic and two variants in the 3' UTR. Conclusions Overall, it seems unlikely that moderate to highly penetrant alleles of either RAP80 or Abraxas, confer a significantly high relative risk of breast cancer.

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Available from: Nelly Sabbaghian, Apr 04, 2014
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    • "Finally, the involvement of DNA repair defects in the development of BC is relevant. This is because mutations in the two wellknown BC genes (BRCA1 and BRCA2) contribute to DNA repair deficiency (Novak et al., 2009), as well as their interacting proteins. Furthermore, XRCC1 probably interacts with the breast cancer gene proteins because it has two BRCA1 carboxyl-terminal (BRCT) domains. "
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