title: BRCA2 germline mutations in primary cancer of the fallopian tube.
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.
authors.affiliation: Clinica Ostetrica e Ginecologica, Università di Udine and Breast Unit, Policlinico Universitario di Udine, Udine, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Casarsa
authors.forename: Fabio
authors.initials: F
authors.lastname: Puglisi
authors.forename: Francesco
authors.initials: F
authors.lastname: Baudi
authors.forename: Loredana
authors.initials: L
authors.lastname: De Paola
authors.forename: Salvatore
authors.initials: S
authors.lastname: Venuta
authors.forename: Andrea
authors.initials: A
authors.lastname: Piga
authors.forename: Carla
authors.initials: C
authors.lastname: Di Loreto
authors.forename: Diego
authors.initials: D
authors.lastname: Marchesoni
authors.forename: Angela Valentina
authors.initials: AV
authors.lastname: D'Elia
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Damante
mesh_terms: D000367:Age Factors; D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics; D005185:Fallopian Tube Neoplasms / Q000235:genetics*; D005192:Family Health; D005260:Female; D024522:Genes, BRCA2; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics; D010375:Pedigree; D011110:Polymorphism, Genetic; D013997:Time Factors