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Minerva Ginecologica 2006 April;58(2):171-5

language: Italian

Management of gynecological tumors associated with BRCA1 and BRCA2 germline mutations. Case report and literature review

Fruscalzo A. 1, Lellé R. J. 2, Calcagno A. 1, Driul L. 1, Damante G. 3, Marchesoni D. 1

1 Clinica di Ginecologia e Ostetricia, Università degli Studi di Udine, Udine, Italy
2 Department of Obstetrics and Gynecology, University Hospital, Münster, Germany
3 Dipartimento di Genetica Medica, Università degli Studi di Udine, Udine, Italy


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Genetic investigation of BRCA1 and BRCA2 germline mutations is, nowadays, a diagnostic procedure with practical clinical applications. The role of this genes in DNA repair and stability and in cancer development is now well recognised. Most involved are breast and ovarian cancers, but, less frequently, other gynecological cancers like cervical, corpus uteri and Fallopian tubes cancers and also other non gynecological malignancies. We report the case of a 67-year-old patient with strong familiarity for breast cancer, with a BRCA2 germline mutation, who developed in 30 months 4 primary malignancies: in chronological order, breast cancer, chronic lymphatic leukemia, and synchronous ovarian and endocervical adenocarcinoma. A better knowledge of the biological and clinical behaviour of BRCA related cancers is of strategical importance in the management of patients with strong familiar neoplastic history or with genetic test positivity. An adequate counselling can help in the management of these cancers in the prevention and early diagnosis taking also into consideration the possibility of a prophylactic surgery.

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