title: SEOM clinical guidelines in Hereditary Breast and ovarian cancer.
abstract: Approximately, 7 % of all breast cancers (BC) and 11-15 % of ovarian cancers (OC) are associated with inherited predisposition, mainly related to germline mutations in high penetrance BRCA1/2 genes. Clinical criteria for genetic testing are based on personal and family history to estimate a minimum 10 % detection rate. Selection criteria are evolving according to new advances in this field and the clinical utility of genetic testing. Multiplex panel testing carries its own challenges and we recommend inclusion of genes with clinical utility. We recommend screening with annual mammography from age 30 and breast MRI from age 25 for BRCA1 and BRCA2 mutation carriers. Bilateral salpingo-oophorectomy should be offered to women with a BRCA1 or BRCA2 mutation, between 35 and 40 years and after completion of childbearing, or individualise based on the earliest age of ovarian cancer diagnosed in the family. Bilateral risk-reducing mastectomy is an option for healthy BRCA1 and BRCA2 mutation carriers, as well as contralateral mastectomy for young patients with a prior BC diagnosis. BRCA genetic testing in patients with BC and OC may influence their locoregional and systemic treatment.
authors.affiliation: Unidad de Consejo Genético, Servicio de Oncología Médica, Corporació Sanitària Parc Taulí/Consorci Sanitari de Terrassa, Parc Taulí s/n, 08208, Sabadell, Barcelona, Spain. gllort@cst.cat.
authors.forename: G
authors.initials: G
authors.lastname: Llort
authors.affiliation: Oncología Médica, Hospital Clínico Universitario de Valencia, Valencia, Spain.
authors.forename: I
authors.initials: I
authors.lastname: Chirivella
authors.affiliation: Servicio de Oncología Médica, Hospital La Mancha Centro, Ciudad Real, Spain.
authors.forename: R
authors.initials: R
authors.lastname: Morales
authors.affiliation: Unidad de Consejo Genético, Servicio de Oncología Médica, Hospital Universitario Reina Sofía (Córdoba), Córdoba, Spain.
authors.forename: R
authors.initials: R
authors.lastname: Serrano
authors.affiliation: Unidad de Consejo Genético en Cáncer, Servicio de Oncología Médica, Hospital General Universitario de Elche, Alicante, Spain.
authors.forename: A Beatriz
authors.initials: AB
authors.lastname: Sanchez
authors.affiliation: Unidad de Consejo Genético, Programa de Cáncer Hereditario, Institut Català d'Oncologia-IDIBELL, L'Hospitalet del Llobregat, Barcelona, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Teulé
authors.affiliation: Unidad de Consejo Genético, Sección Oncología Médica, Hospital Universitario de Burgos, Burgos, Spain.
authors.forename: E
authors.initials: E
authors.lastname: Lastra
authors.affiliation: Unidad de Consejo Genético, Programa de Cáncer Hereditario, Institut Català d'Oncologia-IDIBGI, Girona, Dpto Ciencias Médicas, Facultad de Medicina, Universidad de Girona, Girona, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Brunet
authors.affiliation: Programa Cáncer Familiar, Servicio Oncología Médica, Hospital Vall d'Hebron, Barcelona, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Balmaña
authors.affiliation: Unidad de Alto riesgo en Cáncer, Servicio de Oncologia Médica, Complejo Hospitalario Universitario A Coruña (CHUAC), La Coruña, Spain.
authors.forename: B
authors.initials: B
authors.lastname: Graña
mesh_terms: D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics / Q000517:prevention & control*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D006801:Humans; D008495:Medical Oncology; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010051:Ovarian Neoplasms / Q000235:genetics / Q000517:prevention & control*; D017410:Practice Guidelines as Topic / Q000592:standards*; D012955:Societies, Medical
keywords: BRCA1 and BRCA2 genes; Hereditary breast and ovarian cancer; Prevention; SEOM