SEOM clinical guidelines in hereditary breast and ovarian cancer (2019)
González-Santiago, Santiago (Hospital Universitario San Pedro de Alcántara)
Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau)
Aguirre, Elena (Hospital Quirónsalud)
Alés-Martínez, José Enrique (Hospital Nuestra Señora de Sonsoles (Àvila))
Andrés Conejero, Raquel (Hospital Clínico Universitario "Lozano Blesa" de Zaragoza)
Balmaña Gelpí, Judith (Hospital Universitari Vall d'Hebron)
Graña Suárez, Begoña (Complexo Hospitalario Universitario (CHUAC))
Herrero Ibáñez, Ana (Hospital Universitario Miguel Servet (Saragossa))
Llort, Gemma (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT))
González-del-Alba, Aránzazu (Hospital Universitario Puerta de Hierro Majadahonda (Madrid))
Universitat Autònoma de Barcelona

Date:	2020
Abstract:	Mutations 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.
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Hereditary breast ; Ovarian cancer ; SEOM guidelines
Published in:	Clinical & translational oncology, Vol. 22 Núm. 2 (january 2020) , p. 193-200, ISSN 1699-3055

DOI: 10.1007/s12094-019-02262-0
PMID: 31889241

8 p, 823.8 KB

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Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Parc Taulí Research and Innovation Institute (I3PT
Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut de Recerca Sant Pau
Articles > Research articles
Articles > Published articles