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Mutation screening of RAD51C in high-risk breast and ovarian cancer families

Mutation screening of RAD51C in high-risk breast and ovarian cancer families Deleterious mutations in the RAD51C gene, which encodes a DNA double-strand break repair protein, have been reported to confer high-penetrance susceptibility to both breast and ovarian cancer. To confirm this we conducted a mutation screen of the RAD51C gene in 192 probands from high-risk breast and/or ovarian cancer families that do not carry BRCA1 or BRCA2 mutations. The nine exons of the RAD51C gene containing protein coding sequence were screened for mutations in genomic DNA from family probands by high-resolution melting analysis and direct DNA sequencing. Four missense variants, p.Ser364Gly, p.Ala126Thr, p.Val169Ala, and p.Thr287Ala were detected in six patients. The p.Ser364Gly variant is a novel variant predicted to have little influence on RAD51C activity. The p.Ala126Thr and p.Val169Ala variants have been reported to have no association with risk of breast cancer in a case–control study. However, p.Thr287Ala disrupts the DNA repair activity of RAD51C, suggesting some influence on risk. Consistent with published results from similar follow-up studies, we suggest that RAD51C mutations are rare events among high-risk breast cancer and breast/ovarian cancer families. Large population-based studies will be needed to reliably assess the prevalence and penetrance of inactivating mutations in the RAD51C susceptibility gene. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Familial Cancer Springer Journals

Mutation screening of RAD51C in high-risk breast and ovarian cancer families

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References (26)

Publisher
Springer Journals
Copyright
Copyright © 2012 by Springer Science+Business Media B.V.
Subject
Biomedicine; Epidemiology; Biomedicine general; Human Genetics; Cancer Research
ISSN
1389-9600
eISSN
1573-7292
DOI
10.1007/s10689-012-9523-9
pmid
22476429
Publisher site
See Article on Publisher Site

Abstract

Deleterious mutations in the RAD51C gene, which encodes a DNA double-strand break repair protein, have been reported to confer high-penetrance susceptibility to both breast and ovarian cancer. To confirm this we conducted a mutation screen of the RAD51C gene in 192 probands from high-risk breast and/or ovarian cancer families that do not carry BRCA1 or BRCA2 mutations. The nine exons of the RAD51C gene containing protein coding sequence were screened for mutations in genomic DNA from family probands by high-resolution melting analysis and direct DNA sequencing. Four missense variants, p.Ser364Gly, p.Ala126Thr, p.Val169Ala, and p.Thr287Ala were detected in six patients. The p.Ser364Gly variant is a novel variant predicted to have little influence on RAD51C activity. The p.Ala126Thr and p.Val169Ala variants have been reported to have no association with risk of breast cancer in a case–control study. However, p.Thr287Ala disrupts the DNA repair activity of RAD51C, suggesting some influence on risk. Consistent with published results from similar follow-up studies, we suggest that RAD51C mutations are rare events among high-risk breast cancer and breast/ovarian cancer families. Large population-based studies will be needed to reliably assess the prevalence and penetrance of inactivating mutations in the RAD51C susceptibility gene.

Journal

Familial Cancer – Springer Journals

Published: Apr 4, 2012

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