000156529 001__ 156529
000156529 005__ 20251017144551.0
000156529 0247_ $$2doi$$a10.1007/s12094-019-02262-0
000156529 0248_ $$2sideral$$a117335
000156529 037__ $$aART-2020-117335
000156529 041__ $$aeng
000156529 100__ $$aGonzález-Santiago, S.
000156529 245__ $$aSEOM clinical guidelines in hereditary breast and ovarian cancer (2019)
000156529 260__ $$c2020
000156529 5060_ $$aAccess copy available to the general public$$fUnrestricted
000156529 5203_ $$aMutations in BRCA1 and BRCA2 high penetrance genes account for most hereditary breast and ovarian cancer, although other new high-moderate penetrance genes included in multigene panels have increased the genetic diagnosis of hereditary breast and ovarian cancer families by 50%. 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.
000156529 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttps://creativecommons.org/licenses/by/4.0/deed.es
000156529 590__ $$a3.405$$b2020
000156529 591__ $$aONCOLOGY$$b159 / 241 = 0.66$$c2020$$dQ3$$eT2
000156529 592__ $$a0.902$$b2020
000156529 593__ $$aCancer Research$$c2020$$dQ2
000156529 593__ $$aOncology$$c2020$$dQ2
000156529 593__ $$aMedicine (miscellaneous)$$c2020$$dQ2
000156529 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000156529 700__ $$aRamón y Cajal, T.
000156529 700__ $$aAguirre, E.
000156529 700__ $$aAlés-Martínez, J.E.
000156529 700__ $$0(orcid)0000-0003-0123-4274$$aAndrés, R.$$uUniversidad de Zaragoza
000156529 700__ $$aBalmaña, J.
000156529 700__ $$aGraña, B.
000156529 700__ $$aHerrero, A.
000156529 700__ $$aLlort, G.
000156529 700__ $$aGonzález-del-Alba, A.
000156529 700__ $$athe, SEOM, Hereditary, Cancer, Working, Group
000156529 7102_ $$11007$$2610$$aUniversidad de Zaragoza$$bDpto. Medicina, Psiqu. y Derm.$$cArea Medicina
000156529 773__ $$g22, 2 (2020), 193-200$$pClin. transl. oncol.$$tClinical and Translational Oncology$$x1699-048X
000156529 8564_ $$s843572$$uhttps://zaguan.unizar.es/record/156529/files/texto_completo.pdf$$yVersión publicada
000156529 8564_ $$s1971466$$uhttps://zaguan.unizar.es/record/156529/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000156529 909CO $$ooai:zaguan.unizar.es:156529$$particulos$$pdriver
000156529 951__ $$a2025-10-17-14:11:52
000156529 980__ $$aARTICLE