BRCA2 germline mutations in primary cancer of the fallopian tube |
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Authors: | Casarsa Sara Puglisi Fabio Baudi Francesco De Paola Loredana Venuta Salvatore Piga Andrea Di Loreto Carla Marchesoni Diego D'Elia Angela Valentina Damante Giuseppe |
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Affiliation: | Clinica Ostetrica e Ginecologica, Università di Udine and Breast Unit, Policlinico Universitario di Udine, Udine, Italy. |
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Abstract: | Germline mutations of BRCA1 and BRCA2 genes confer susceptibility to breast and ovarian cancer. It has been recently reported that BRCA1/2 mutations may also predispose to fallopian tube cancer. We report the presence of germline BRCA2 gene mutations in three out of four subjects with fallopian tube cancer diagnosed in a two-year time span at our clinic. The mothers of two of these women suffered from breast or ovarian carcinoma. These results suggest on one hand that in patients with a history suggestive for a heredofamilial breast/ovarian cancer syndrome fallopian tube carcinoma is associated with high risk of BRCA2 mutation, and on the other hand that in patients/individuals with germline BRCA2 gene mutations in whom a prophylactic oophorectomy is performed, removal of fallopian tubes may be considered. |
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