OA: (Ireland) BRCA1/2 germline testing in non-mucinous epithelial ovarian carcinoma: changing international practice/implications for service provision Ovarian Cancer and Us OVARIAN CANCER and US Ovarian Cancer and Us

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Thursday, January 12, 2017

OA: (Ireland) BRCA1/2 germline testing in non-mucinous epithelial ovarian carcinoma: changing international practice/implications for service provision



open access:
European Journal of Human Genetics - BRCA1/2 germline testing in non-mucinous epithelial ovarian carcinoma: changing international practice and implications for service provision

 Ovarian carcinoma is the fourth most common cancer for women in Republic of Ireland, with an average of 361 cases per year.1 The association with germline mutations in BRCA1/2 genes in non-mucinous ovarian cancer risk is well established.2 Determining the BRCA status of ovarian cancer patients has important prognostic and therapeutic implications for individual patients.3 The frequency of BRCA1/2 germline mutations in non-mucinous ovarian carcinoma is estimated at 14–15%,2 with previous studies finding a higher rate of 16.6% in serous ovarian carcinoma and 17.1% in high-grade serous carcinoma.3 Family history has been shown not to be sufficiently accurate to predict mutation status.2, 3 In Ireland, as in most European countries, and the United States, the current recommendation is that patients with a family history of breast/ovarian cancer should be offered full mutation screening of the BRCA1/2 genes as appropriate following the assessment by a clinical genetics service.4.....

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