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Germline and Somatic Mutations in Homologous Recombination Genes Predict Platinum Response and Survival in Ovarian, Fallopian Tube, and Peritoneal Carcinomas
Clinical Cancer Research · 2013 · Vol. 20(3) · pp. 764–775
Kathryn P. Pennington(Medical Genetics Center)Tom Walsh(University of Washington Medical Center)Maria I. Harrell(Medical Genetics Center)Ming K. Lee(University of Washington Medical Center)Christopher C. Pennil(Medical Genetics Center)Mara H. Rendi(Medical Genetics Center)Anne Thornton(Medical Genetics Center)Barbara M. Norquist(University of Washington Medical Center)Silvia Casadei(University of Washington Medical Center)Alex S. Nord(Medical Genetics Center)Kathy Agnew(Medical Genetics Center)Colin C. Pritchard(University of Washington Medical Center)Sheena Scroggins(Medical Genetics Center)Rochelle L. Garcia(University of Washington Medical Center)Mary‐Claire King(University of Washington Medical Center)Elizabeth M. Swisher✉(University of Washington Medical Center)
Abstract
Germline or somatic mutations in homologous recombination genes are present in almost one third of ovarian carcinomas, including both serous and nonserous histologies. Somatic BRCA1/2 mutations and mutations in other homologous recombination genes have a similar positive impact on overall survival and platinum responsiveness as germline BRCA1/2 mutations. The similar rate of homologous recombination mutations in nonserous carcinomas supports their inclusion in PARP inhibitor clinical trials.
Ovarian cancer diagnosis and treatmentPARP inhibition in cancer therapyBRCA gene mutations in cancerHomologous recombinationGermline mutationGermlineBiologySomatic cellNon-allelic homologous recombinationHomologous chromosomeGeneticsCancer researchBRCA2 Protein
MeSH terms
AdultAgedAged, 80 and overAntineoplastic AgentsCarcinomaFallopian Tube NeoplasmsFemaleHumansMiddle AgedMutationOvarian NeoplasmsPeritoneal NeoplasmsGene Expression Regulation, NeoplasticPlatinum CompoundsDrug Resistance, Neoplasm
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References
Deficiency in the Repair of DNA Damage by Homologous Recombination and Sensitivity to Poly(ADP-Ribose) Polymerase Inhibition
Cancer Research · 2006 · 1,298 citations
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