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Multigene cancer panels provide new challenges related to increased frequency of variants of uncertain significance, new gene-specific cancer risk assessments, and clinical recommendations for carriers of mutations of new genes. Although clinical criteria for genetic testing continue to be largely based on personal and family history with around a 10% detection rate, broader criteria are being applied with a lower threshold for detecting mutations when there are therapeutic implications for patients with breast or ovarian cancer. In this regard, new models of genetic counselling and testing are being implemented following the registration of PARP inhibitors for individuals who display BRCA mutations. Massive sequencing techniques in tumor tissue is also driving a paradigm shift in genetic testing and potential identification of germline mutations. In this paper, we review the current clinical criteria for genetic testing, as well as surveillance recommendations in healthy carriers, risk reduction surgical options, and new treatment strategies in breast cancer gene-mutated carriers.<\/jats:p>","DOI":"10.1007\/s12094-019-02262-0","type":"journal-article","created":{"date-parts":[[2019,12,30]],"date-time":"2019-12-30T07:02:19Z","timestamp":1577689339000},"page":"193-200","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":67,"title":["SEOM clinical guidelines in hereditary breast and ovarian cancer (2019)"],"prefix":"10.1007","volume":"22","author":[{"name":"the SEOM Hereditary Cancer Working Group","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4787-0236","authenticated-orcid":false,"given":"S.","family":"Gonz\u00e1lez-Santiago","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Ram\u00f3n y Cajal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Aguirre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. 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TRC reports travel expenses from Pfizer and Astellas. EA reports honoraria for speaking from Roche, Novartis, Pfizer, Astra\u2013Zeneca, Eisai, and MSD; Advisory role for MSD and Pfizer, and travel expenses from MSD, Roche, and Pfizer. JEAM reports honoraria for speaking from MSD, Roche, Pfizer; Advisory role for Roche, Pfizer, BMS, Tesaro, and travel expenses from MSD, Roche, and BMS. RA has nothing to disclose. JB reports advisory role for Astra\u2013Zeneca and Pfizer, honoraria for speaking from Bristol\u2013Myers Squibb, Cor2ED, and Medscape, and grants for research from Astra\u2013Zeneca, Pharmamar, Pfizer, and Tesaro. BG has nothing to disclose. AH reports honoraria for speaking from Roche, Tesaro, MSD, Clovis, and Astra\u2013Zeneca and travel expenses from Roche outside the submitted work. GLL has nothing to disclose. AGdA reports Advisory Board, consultancy, and speaker honoraria\/travel support from Pierre Fabre, Roche, Bristol\u2013Myers Squibb, MSD, Pfizer, Novartis, Bayer, Janssen, Sanofi, Astellas, EUSA pharma, Ipsen, EISAI, and Astra\u2013Zeneca, outside the submitted work.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The current study has been conducted in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"As Clinical guideline, patient informed consent does not apply.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}