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 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.
VBCRC Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia. ella.thompson@petermac.org
Ella R
ER
Thompson
Simone M
SM
Rowley
Sarah
S
Sawyer
kConfab
Diana M
DM
Eccles
Alison H
AH
Trainer
Gillian
G
Mitchell
Paul A
PA
James
Ian G
IG
Campbell
D000368:Aged; D000595:Amino Acid Sequence; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005190:Family; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D019656:Loss of Heterozygosity; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000473:pathology
D004268:DNA-Binding Proteins; C112629:RAD51D protein, human