Background A proportion of Barrett’s esophagus (BE) and esophageal adenocarcinoma (EAC) displays familial aggregation, known as familial Barrett’s esophagus (FBE). Pedigrees and characteristics of EAC in these families have been previously described. Aims We aimed to evaluate endoscopic and clinical characteristics of Barrett’s esophagus in FBE. Methods A cohort of 979 BE patients were retrospectively evaluated for FBE, defined as having a first-degree relative with BE or esophageal cancer, confirmed when possible by interview. FBE and sporadic BE were compared regarding demographic, clinical, and endoscopic characteristics. Potential FBE probands were contacted and interviewed to obtain full family pedigrees. Results Of 603 BE probands (61.6% of total cohort) with a documented family history, 35 (5.8%) had FBE. There was no difference between FBE and non-FBE probands with regard to BE length (median: 3 cm, IQR 2-5 vs. 3 cm, IQR 1-6 cm, respectively; p = 0.78) or hiatal hernia size (p = 0.90). FBE probands were younger (mean, 58.4 vs. 63.8; p = 0.02) and had a significant association with less-advanced neoplasia (adjusted OR 0.41, 95% CI 0.19–0.90). There was no obvious association between FBE and other malignancies. Conclusions There were no differences in endoscopic characteristics between FBE and non-FBE probands. While FBE patients were younger and had less-advanced neoplasia, we speculate that these findings may have been the result of more aggressive screening due to the family history. Further studies are warranted to determine whether familial clustering is due to genetic predisposition to development of BE or to risk of neoplastic progression.

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The BRCA1 mutations 185delAG and 5382insC and the BRCA2 mutation 6174delT have been detected in a significant proportion of Ashkenazi Jewish women with early-onset breast cancer. A group of 236 Jewish women with breast cancer was screened for the presence of these alterations. Mutations were detected in 25.0% (59/236). Among women with breast cancer diagnosed at or before the age of 45, the prevalence of these mutations was 29.1% (42/144). Among women diagnosed with breast cancer after age 45, mutations were noted in 18.5% (17/92). Among women with a family history of breast or ovarian cancer, the likelihood of detecting a mutation was 32.1% (53/165). BRCA1 185delAG was the most common mutation overall (40/236, 16.9%). The ratio of BRCA1 185delAG to BRCA2 6174delT was 4.0 in women with early-onset breast cancer and 1.3 in women with breast cancer diagnosed after age 45. Clinical features such as age at diagnosis, family history of breast or ovarian cancer, bilateral breast cancer, and personal history of breast and ovarian cancer increase the likelihood of detecting mutations among Ashkenazi women with breast cancer. The yield of testing is low in the absence of any of these features.

Greater anxiety increased interest in testing but decreased adherence to screening behaviors. Women who have had childhood cancers with chest radiation treatment are at higher risk for breast cancer. The information gleaned from this study can be adapted to help them learn their real risk for developing breast cancer and to understand the importance of screening in the early detection of breast cancer.

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