Objective, The goal of this work was to evaluate the importance of genetic
factors in the etiology of fallopian tube cancer.
Methods. All pathologically confirmed cases of fallopian tube cancer diagno
sed in Ontario from 1990 to 1998 were identified from the records of the On
tario Cancer Registry. Living patients were approached to provide informati
on about their family history and to provide a blood sample for testing for
mutations in BRCA1 and BRCA2,
Results. A modest increase in the risk of ovarian cancer (relative risk (RR
) = 2.2; 95% confidence interval (CI) = 0.4, 6.3) and of early-onset breast
cancer (RR = 2.4; 95% CI = 0.6, 6.1) was observed in the first-degree rela
tives of the fallopian cancer cases. Five of the forty-four cases were posi
tive for a mutation in BRCA1 (11%) and two were positive for a BRCA2 mutati
on (5%), Five of eighteen women diagnosed at or before age 55 were positive
(28%). Two of the seven mutation carriers had a strong family history of b
reast and ovarian cancer, and three carriers had a modest family history. T
hree of the forty-four cases were Jewish, and of these, two carried a found
er mutation characteristic of this population.
Conclusions. Fallopian tube carcinoma should be considered to be a clinical
component of the hereditary breast-ovarian cancer syndrome, and may be ass
ociated with BRCA1 and BRCA2 mutations, Genetic evaluation should be offere
d to women who present with fallopian tube carcinoma. It is important to co
nsider the risk of fallopian tube carcinoma when prophylactic oophorectomy
is performed in high-risk women, (C) 2001 Academic Press.