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PMID: 40074332 已发表 · ppublish 英语

Potential New Tumors Associated with Hereditary Breast and Ovarian Cancer (HBOC).

The Keio journal of medicine ·第 74 卷 ·第 3 期 ·2025-09-25

Nakamura K, Masuda K, Seki T, Kitago M, Kosaka T, Goto Y, Yamada M, Misu K, Ono I, Kobayashi Y, Yamagami W

摘要

Hereditary breast and ovarian cancer syndrome (HBOC) is traditionally associated with mutations in the BRCA1 and BRCA2 genes, predominantly impacting breast, ovarian, pancreatic, and prostate cancers. However, recent research suggests that these mutations may also predispose carriers to a broader spectrum of malignancies, including biliary tract, cervical, colorectal, endometrial, esophageal, and gastric cancers. This review presents findings from extensive datasets, including a significant study from a nationwide Japanese biobank that examined cancer risks in 63,828 patients and 37,086 controls. Our review highlights notable associations, such as an increased risk of uterine and cervical cancers in BRCA1 mutation carriers and increased risk of esophageal and gastric cancers in BRCA2 mutation carriers. These emerging associations underscore the necessity of revisiting and potentially expanding current clinical guidelines to incorporate these additional risks. These findings advocate a comprehensive approach to genetic counseling and underscore the importance of tailored cancer surveillance strategies in populations carrying BRCA mutations. This expanded understanding could significantly influence preventive, diagnostic, and therapeutic strategies, promoting personalized approaches to manage and potentially prevent these malignancies in genetically susceptible populations.

关键词
BRCA1 BRCA2 esophageal cancer gastric cancer hereditary breast and ovarian cancer syndrome
文献信息
期刊
The Keio journal of medicine
期刊简称
Keio J Med
ISSN
1880-1293
发表日期
2025-09-25
语言
英语
国家/地区
Japan
NLM ID
0376354
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