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Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer

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Recommendation 1.1 ➤ All women diagnosed with epithelial ovarian cancer should be offered germline genetic testing for BRCA1, BRCA2 and other ovarian cancer susceptibility genes, irrespective of their clinical features or family cancer history. Somatic tumor testing for BRCA1 and BRCA2 pathogenic or likely pathogenic variants should be performed in women who do not carry a germline pathogenic or likely pathogenic BRCA1/2 variant. (Strong recommendation; EB-B-I) Recommendation 1.2 ➤ Women diagnosed with clear cell, endometrioid or mucinous ovarian cancer should be offered somatic tumor testing for mismatch repair deficiency (dMMR). (Moderate recommendation; EB-B-I) Recommendation 1.3 ➤ Testing for dMMR may be offered to women diagnosed with other histological types of epithelial ovarian cancer. (Moderate recommendation; EB-B-I) Recommendation 1.4 ➤ Those genetic evaluations should be conducted in conjunction with health care providers, including genetic counselors, familiar with the diagnosis and management of hereditary cancer syndromes, to determine the most appropriate testing strategy and discuss implications of the findings, positive or negative, for first- or second-degree blood relatives. (Moderate recommendation; IC-L) Recommendation 1.5 ➤ First- or second-degree blood relatives of an ovarian cancer patient with a known germline pathogenic cancer susceptibility gene mutation or variant should be offered individualized genetic risk evaluation, counselling and genetic testing. (Strong recommendation; EB-B-H) Recommendation 2.1 ➤ Women diagnosed with epithelial ovarian cancer with identified germline or somatic pathogenic or likely pathogenic variants in BRCA1 and BRCA2 genes should be offered treatments that are FDA-approved under their labeled indication in the upfront and the recurrent setting. BRCA1/2 pathogenic or likely pathogenic variants qualify for and have been associated with higher rates of response to FDA-approved treatments such as PARP inhibitors. (Strong recommendation; EB-B-H) Diagnosis

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