BRCA2 germline mutations in primary cancer of the fallopian tube.
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.
Casarsa
Sara
S
Clinica Ostetrica e Ginecologica, Università di Udine and Breast Unit, Policlinico Universitario di Udine, Udine, Italy.
Puglisi
Fabio
F
Baudi
Francesco
F
De Paola
Loredana
L
Venuta
Salvatore
S
Piga
Andrea
A
Di Loreto
Carla
C
Marchesoni
Diego
D
D'Elia
Angela Valentina
AV
Damante
Giuseppe
G
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