Whether germline (g) breast cancer susceptibility gene (
BRCA) mutations are located within or outside the ovarian cancer cluster region (OCCR) (1380‐4062 bp for g
BRCA1, and between 3249‐5681 bp and 6645‐7471 bp for g
BRCA2) may influence risk variations for ovarian cancers. This ad hoc analysis of the CHARLOTTE epidemiological study in Japan assessed the distribution of g
BRCA1/2 mutations in patients with newly diagnosed ovarian cancer, and investigated an association between g
BRCA1/2 mutation locations and ovarian cancer risk. Differences in patient background and clinical characteristics in subgroups stratified by g
BRCA1/2 mutation locations were also evaluated. We analyzed the data of 93 patients (14.7%) from the CHARLOTTE study who were positive for g
BRCA1/2 mutations. After excluding 16 cases with L63X founder mutation, 28 (65.1%) of g
BRCA1 mutations were within the OCCR. Of 30 g
BRCA2 mutations, 15 (50.0%) were within the OCCR. Of 27 patients (one patient excluded for unknown family history) with g
BRCA1 mutations located in the OCCR, 11 (40.7%) had a family history of ovarian cancer; the proportion of patients with a family history of ovarian cancer and
gBRCA1 mutations outside the OCCR was lower (13.3%). Sixty percent of patients with g
BRCA1 mutations outside the OCCR had a family history of breast cancer; the proportion of patients with a family history of breast cancer and g
BRCA1 mutations within the OCCR was relatively lower (33.3%). Understanding the mutation locations may contribute to more accurate risk assessments of susceptible individuals and early detection of ovarian cancer among g
BRCA mutation carriers.
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