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dc.contributor.authorThompson, ER
dc.contributor.authorRowley, SM
dc.contributor.authorSawyer, S
dc.contributor.authorEccles, DM
dc.contributor.authorTrainer, AH
dc.contributor.authorMitchell, G
dc.contributor.authorJames, PA
dc.contributor.authorCampbell, IG
dc.identifierpii: PONE-D-12-30420
dc.identifier.citationThompson, E. R., Rowley, S. M., Sawyer, S., Eccles, D. M., Trainer, A. H., Mitchell, G., James, P. A. & Campbell, I. G. (2013). Analysis of RAD51D in Ovarian Cancer Patients and Families with a History of Ovarian or Breast Cancer. PLOS ONE, 8 (1),
dc.descriptionC1 - Journal Articles Refereed
dc.description.abstractMutations 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.
dc.subjectCancer Genetics; Cancer and Related Disorders
dc.titleAnalysis of RAD51D in Ovarian Cancer Patients and Families with a History of Ovarian or Breast Cancer
dc.typeJournal Article
melbourne.peerreviewPeer Reviewed
melbourne.affiliationThe University of Melbourne
melbourne.affiliation.departmentMedicine - Royal Melbourne Hospital
melbourne.source.titlePLOS ONE
dc.rights.licenseCC BY
melbourne.contributor.authorCampbell, Ian
melbourne.contributor.authorTrainer, Alison
melbourne.contributor.authorJames, Paul
melbourne.contributor.authorMitchell, Gillian
melbourne.contributor.authorThompson, Ella
melbourne.fieldofresearch321103 Cancer genetics
melbourne.seocode200199 Clinical health not elsewhere classified
melbourne.accessrightsAccess this item via the Open Access location

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