Title : Germline and Somatic Mutations in Homologous Recombination Genes Predict Platinum Response
نویسندگان
چکیده
Financial support: Supported by NIH/NCI grants R01CA131965 (ES), P50CA083636 (ES), and 13 R01CA157744 (TW, M-CK), the Ovarian Cancer Research Fund (ES), Wendy Feuer Ovarian Cancer 14 Research Fund (ES), the Cori and Tony Bates Novel Technologies for Cancer Prevention Fund (ES), and 15 the Department of Defense Ovarian Cancer Research Program OC093285 (TW). 16 17 Corresponding author: 18 Elizabeth M. Swisher MD 19 University of Washington Medical Center 20 Department of Obstetrics and Gynecology, Box 356460 21 Seattle, Washington 98195-6460 22 Phone: 206-543-3669 Fax: 206-543-3915 23 Email: [email protected] 24 25 No potential conflicts of interest were disclosed. 26
منابع مشابه
Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.
PURPOSE Hallmarks of germline BRCA1/2-associated ovarian carcinomas include chemosensitivity and improved survival. The therapeutic impact of somatic BRCA1/2 mutations and mutations in other homologous recombination DNA repair genes is uncertain. EXPERIMENTAL DESIGN Using targeted capture and massively parallel genomic sequencing, we assessed 390 ovarian carcinomas for germline and somatic lo...
متن کاملPredictive Biomarkers and Personalized Medicine Germline and Somatic Mutations in Homologous Recombination Genes Predict Platinum Response and Survival in Ovarian, Fallopian Tube, and Peritoneal Carcinomas
Purpose: Hallmarks of germline BRCA1/2-associated ovarian carcinomas include chemosensitivity and improved survival. The therapeutic impact of somatic BRCA1/2 mutations and mutations in other homologous recombination DNA repair genes is uncertain. Experimental Design: Using targeted capture and massively parallel genomic sequencing, we assessed 390ovarian carcinomas for germline and somatic los...
متن کاملGermline and somatic mutations in homologous recombination genes among Chinese ovarian cancer patients detected using next-generation sequencing
OBJECTIVE To define genetic profiling of homologous recombination (HR) deficiency in Chinese ovarian cancer patients. METHODS we have applied next-generation sequencing to detect deleterious mutations through all exons in 31 core HR genes. Paired whole blood and frozen tumor samples from 50 Chinese women diagnosed with epithelial ovarian carcinomas were tested to identify both germline and so...
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Ovarian cancer (OC) is the seventh most common cancer in women. Although women diagnosed with OC are usually treated frontline with platinum-based chemotherapy, most of them relapse once treatment is halted. Therefore, maintenance therapies have been developed to secure the response and delay further chemotherapy. There are two established maintenance therapies for women affected by platinum-se...
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The inability to repair double stranded DNA breaks, or homologous recombination deficiency (HRD), is the first clinically actionable molecular aberration to be identified in gynecologic cancers. Germline mutations in BRCA1 and BRCA2 were the first biomarkers of this phenotype to be identified. Further investigation of these mutations revealed that they are key biomarkers for prevention in affec...
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