SEOM clinical guidelines in Hereditary Breast and ovarian cancer

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

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Tumores malignos ginecológicos sincrónicos. Casuística del Hospital de Manacor / Synchronous malignant gynecological tumors. Casuistics of the Manacor Hospital

Objetivo: El presente estudio pretende que el ginecólogo clínico tome conciencia de la existencia de tumores ginecológicos de aparición sincrónica en una misma paciente durante el proceso diagnóstico de una neoplasia ginecológica, sobre todo en casos de antecedentes de cáncer de tipo familiar. Se describen varios síndromes consistentes en la aparición de tumores de tipo familiar que facilitan la presencia de tumores ginecológicos sincrónicos. Sujetos y métodos: Se analiza la casuística del Hospital de Manacor desde 1997 hasta 2006. Resultados: Los casos de tumores ginecológicos sincrónicos suponen el 0,83% de los tumores intervenidos en el período estudiado. Conclusiones: Aunque infrecuentes, estos tumores ginecológicos sincrónicos deben de tenerse en cuenta para que no pasen inadvertidos, sobre todo en pacientes con historia de cáncer familiar o portadoras de algunos síndromes genéticos. Una exploración dirigida a eliminar la presencia de otra neoplasia, aparte de la que estamos diagnosticando, es conveniente (AU)

Objective: To alert clinicians to the possibility of synchronous tumors in patients with gynecological cancer. An important tool in diagnosis is the family history. We describe several familial syndromes involving the development of synchronous gynecological tumors. Subjects and methods: We studied all cases of synchronous gynecological tumors in the Manacor Hospital from 1997 to 2006. Results: Synchronous gynecologic tumors represented 0.83% of all gynecological neoplasms treated in our center in the period studied. Conclusions: This kind of tumor is uncommon but should be considered by clinicians, especially in women with a familial history of cancer or in those with certain genetic syndromes. Examination aimed at excluding the presence of synchronous tumors is recommended (AU)