The purpose of this investigation is to study the frequency and penetrance of BRCA1 and BRCA2 germline mutations in Japanese familial breast cancer patients. Mutation analysis of BRCA1 and BRCA2 by protein truncation test was conducted on the 120 breast cancer patients (probands) with at least one breast cancer (site-specific breast cancer families, n=105) or one ovarian cancer (breast/ovarian cancer families, n=15) patient in their first-degree relatives. Eight BRCA1 (7.6%) and ten BRCA2 (9.5%) mutations were found in site-specific breast cancer families (n=105), and seven BRCA1 (46.7%) but no BRCA2 (0%) mutations were found in breast/ovarian cancer families (n=15). In site-specific breast cancer families, mutation frequency of BRCA1 and BRCA2 was high in families with more than three breast cancer patients (30%, 6/20), early onset (40< or = years old) breast cancer patients (41.1%, 14/34), or bilateral breast cancer patients (40%, 6/15). Cumulative incidence of breast cancer by age 70 was estimated to be 78% and 80% for BRCA1 and BRCA2 mutation carriers, respectively, and that of ovarian cancer was 40% and 0% for BRCA1 and BRCA2 mutation carriers, respectively. Family profiles are important determinants of risk for carrying a BRCA1 or BRCA2 mutation. Japanese women with BRCA1 mutation have a high risk of breast and ovarian cancer and those with BRCA2 mutation have a high risk of breast cancer but not ovarian cancer.
Asian Continental Ancestry Group* ; Breast Neoplasms* ; Breast* ; Female ; Germ-Line Mutation* ; Humans ; Incidence ; Mutation Rate ; Ovarian Neoplasms* ; Penetrance

BACKGROUND: The dietary pattern of pregnant women is known to be associated with preterm birth (PTB). We investigated whether PTB was associated with intake of fermented food by using data from the Japan Environment and Children's Study. METHODS: From a data set of 103,099 pregnancies, 77,667 cases at low risk for PTB were analyzed. The primary outcome measurements were based on PTB. Fermented food (miso soup, yogurt, cheese, and fermented soybeans) consumption was assessed by using a semi-quantitative food frequency questionnaire. RESULTS: Intake of miso soup, yogurt, and fermented soybeans before pregnancy significantly reduced the risk of early PTB (< 34 weeks). The adjusted odds ratio (OR) for early PTB in women who had miso soup 1-2 days/week, 3-4 days/week, or ≥ 5 days/week were 0.58, 0.69, and 0.62, respectively, compared with those who had miso soup < 1 day/week (95% confidence interval (CI) 0.40-0.85, 0.49-0.98, and 0.44-0.87). The adjusted OR for early PTB in women who ate yogurt ≥ 3 times/week was 0.62 (95% CI, 0.44-0.87) compared to those who ate yogurt < 1 time/week. The adjusted OR for early PTB in women who ate fermented soybeans ≥ 3 times/week was 0.60 (95% CI, 0.43-0.84) compared to those who ate < 1 time/week. However, the incidence of overall PTB and late PTB (34-36 weeks) was not associated with fermented food intake. CONCLUSION PTB low-risk women with a high consumption of miso soup, yogurt, and fermented soybeans before pregnancy have a reduced risk of early PTB.
Adult ; Cohort Studies ; Diet ; statistics & numerical data ; Feeding Behavior ; Female ; Fermented Foods ; analysis ; Gestational Age ; Humans ; Japan ; epidemiology ; Odds Ratio ; Pregnancy ; Premature Birth ; epidemiology ; Protective Factors ; Surveys and Questionnaires