Analysis of RAD51D in ovarian cancer patients and families with a history of ovarian or breast cancer

Mutations in RAD51D have been associated with an increased risk of hereditary ovarian cancer and although they have been observed in the context of breast and ovarian cancer families, the association with breast cancer is unclear. The aim of this current study was to validate the reported associatio...

Full description

Saved in:
Bibliographic Details
Published in:PloS one 2013-01, Vol.8 (1), p.e54772
Main Authors: Thompson, Ella R, Rowley, Simone M, Sawyer, Sarah, kConfab, Eccles, Diana M, Trainer, Alison H, Mitchell, Gillian, James, Paul A, Campbell, Ian G
Format: Article
Language:English
Subjects:
Aged
Amino Acid Sequence
Base Sequence
Biology
BRCA1 protein
Breast cancer
Breast Neoplasms - genetics
Cancer
Cancer patients
Cancer research
Cases (containers)
DNA-Binding Proteins - genetics
Exons
Family
Family medical history
Female
Genes, BRCA1
Genes, BRCA2
Genetic aspects
Genetic Predisposition to Disease
Germ-Line Mutation
Health aspects
Health risk assessment
Health risks
Humans
Loss of Heterozygosity
Medical screening
Medicine
Mutation
Ovarian cancer
Ovarian carcinoma
Ovarian Neoplasms - genetics
Ovarian Neoplasms - pathology
Patients
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Mutations in RAD51D have been associated with an increased risk of hereditary ovarian cancer and although they have been observed in the context of breast and ovarian cancer families, the association with breast cancer is unclear. The aim of this current study was to validate the reported association of RAD51D with ovarian cancer and assess for an association with breast cancer. We screened for RAD51D mutations in BRCA1/2 mutation-negative index cases from 1,060 familial breast and/or ovarian cancer families (including 741 affected by breast cancer only) and in 245 unselected ovarian cancer cases. Exons containing novel non-synonymous variants were screened in 466 controls. Two overtly deleterious RAD51D mutations were identified among the unselected ovarian cancers cases (0.82%) but none were detected among the 1,060 families. Our data provide additional evidence that RAD51D mutations are enriched among ovarian cancer patients, but are extremely rare among familial breast cancer patients.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0054772