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Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing

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Abstract
Despite extensive analysis of the BRCA1 and BRCA2 genes, germline mutations are detected in < 20% of families with a presumed genetic predisposition for breast and ovarian cancer. Recent literature reported RAD51C as a new breast cancer susceptibility gene. In this study, we report the analysis of 410 patients from 351 unrelated pedigrees. All were referred for genetic testing and we selected families with at least one reported case of ovarian cancer in which BRCA1&2 mutations were previously ruled out. We analyzed the coding exons, intron-exons boundaries, and UTRs of RAD51C. Our mutation analysis did not reveal any unequivocal deleterious mutation. In total 12 unique sequence variations were identified of which two were novel. Our study and others suggest a low prevalence of RAD51C mutations with an exception for some founder populations. This observation is in favor of the rare allele hypothesis in the debate over the nature of the genetic contribution to individual susceptibility to breast and ovarian cancer and further genome-wide studies in high risk families are warranted.
Keywords
Germline mutations, Hereditary breast and ovarian cancer, RAD51C, BRCA1/2-negative, FANCONI-ANEMIA, BRCA2, GERMLINE MUTATIONS, TWINS

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Chicago
De Leeneer, Kim, Mieke Van Bockstal, Sara De Brouwer, Natalia Swietek, Peter Schietecatte, N Sabbaghian, J Van den Ende, et al. 2012. “Evaluation of RAD51C as Cancer Susceptibility Gene in a Large Breast-ovarian Cancer Patient Population Referred for Genetic Testing.” Breast Cancer Research and Treatment 133 (1): 393–398.
APA
De Leeneer, K., Van Bockstal, M., De Brouwer, S., Swietek, N., Schietecatte, P., Sabbaghian, N., Van den Ende, J., et al. (2012). Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing. BREAST CANCER RESEARCH AND TREATMENT, 133(1), 393–398.
Vancouver
1.
De Leeneer K, Van Bockstal M, De Brouwer S, Swietek N, Schietecatte P, Sabbaghian N, et al. Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing. BREAST CANCER RESEARCH AND TREATMENT. 2012;133(1):393–8.
MLA
De Leeneer, Kim, Mieke Van Bockstal, Sara De Brouwer, et al. “Evaluation of RAD51C as Cancer Susceptibility Gene in a Large Breast-ovarian Cancer Patient Population Referred for Genetic Testing.” BREAST CANCER RESEARCH AND TREATMENT 133.1 (2012): 393–398. Print.
@article{2135204,
  abstract     = {Despite extensive analysis of the BRCA1 and BRCA2 genes, germline mutations are detected in {\textlangle} 20\% of families with a presumed genetic predisposition for breast and ovarian cancer. Recent literature reported RAD51C as a new breast cancer susceptibility gene. In this study, we report the analysis of 410 patients from 351 unrelated pedigrees. All were referred for genetic testing and we selected families with at least one reported case of ovarian cancer in which BRCA1\&2 mutations were previously ruled out. We analyzed the coding exons, intron-exons boundaries, and UTRs of RAD51C. Our mutation analysis did not reveal any unequivocal deleterious mutation. In total 12 unique sequence variations were identified of which two were novel. Our study and others suggest a low prevalence of RAD51C mutations with an exception for some founder populations. This observation is in favor of the rare allele hypothesis in the debate over the nature of the genetic contribution to individual susceptibility to breast and ovarian cancer and further genome-wide studies in high risk families are warranted.},
  author       = {De Leeneer, Kim and Van Bockstal, Mieke and De Brouwer, Sara and Swietek, Natalia and Schietecatte, Peter and Sabbaghian, N and Van den Ende, J and Willocx, S and Storm, K and Blaumeiser, B and Van Asperen, CJ and Wijnen, JT and Leunen, K and Legius, E and Michils, G and Matthijs, G and Blok, MJ and Gomez-Garcia, E and De Paepe, Anne and Tischkowitz, M and Poppe, Bruce and Claes, Kathleen},
  issn         = {0167-6806},
  journal      = {BREAST CANCER RESEARCH AND TREATMENT},
  language     = {eng},
  number       = {1},
  pages        = {393--398},
  title        = {Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing},
  url          = {http://dx.doi.org/10.1007/s10549-012-1998-4},
  volume       = {133},
  year         = {2012},
}

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