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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorGonzález‑Santiago, S.
dc.contributor.authorRamon y Cajal, Teresa
dc.contributor.authorAguirre, E.
dc.contributor.authorAlés‑Martínez, J. E.
dc.contributor.authorAndrés, Raquel
dc.contributor.authorBalmaña Gelpí, Judith
dc.date.accessioned2021-09-16T08:24:50Z
dc.date.available2021-09-16T08:24:50Z
dc.date.copyright2019
dc.date.issued2020-02
dc.identifier.citationGonzález-Santiago S, Ramón y Cajal T, Aguirre E, Alés-Martínez JE, Andrés R, Balmaña J, et al. SEOM clinical guidelines in hereditary breast and ovarian cancer (2019). Clin Transl Oncol. 2020 Feb;22:193-200.
dc.identifier.isbn1699-3055
dc.identifier.urihttp://hdl.handle.net/11351/6324
dc.descriptionHereditary breast; Ovarian cancer; SEOM guidelines
dc.description.abstractMutations 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.
dc.language.isoeng
dc.publisherSpringer
dc.relation.ispartofseriesClinical and Translational Oncology;22
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceScientia
dc.subjectMama - Càncer - Aspectes genètics
dc.subjectOvaris - Càncer - Aspectes genètics
dc.subject.meshBreast Neoplasms
dc.subject.meshOvarian Neoplasms
dc.subject.meshGenetic Predisposition to Disease
dc.titleSEOM clinical guidelines in hereditary breast and ovarian cancer (2019)
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1007/s12094-019-02262-0
dc.subject.decsneoplasias de la mama
dc.subject.decsneoplasias ováricas
dc.subject.decspredisposición genética a la enfermedad
dc.relation.publishversionhttps://doi.org/10.1007/s12094-019-02262-0
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[González-Santiago S] Medical Oncology Department, Hospital Universitario San Pedro de Alcántara, Cáceres, Av. Pablo Naranjo, s/n, 10003 Cáceres, Spain. [Ramón y Cajal T] Medical Oncology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. [Aguirre E] Medical Oncology Department, Hospital Quirónsalud, Zaragoza, Spain. [Alés-Martínez JE] Medical Oncology Department, Hospital Nuestra Señora de Sonsoles, Ávila, Spain. [Andrés R] Medical Oncology Department, Hospital Clínico Universitario Lozano Blesa, Zaragoza, Spain. [Balmaña J] Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain
dc.identifier.pmid31889241
dc.identifier.wos000504890400001
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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