与遗传性乳腺癌和卵巢癌(HBOC)相关的潜在新肿瘤

IF 1.1 Q4 MEDICINE, RESEARCH & EXPERIMENTAL
Kohei Nakamura, Kenta Masuda, Tomoko Seki, Minoru Kitago, Takeo Kosaka, Yumiko Goto, Mamiko Yamada, Kumiko Misu, Ikumi Ono, Yusuke Kobayashi, Wataru Yamagami
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引用次数: 0

摘要

传统上,遗传性乳腺癌和卵巢癌综合征(HBOC)与BRCA1和BRCA2基因突变有关,主要影响乳腺癌、卵巢癌、胰腺癌和前列腺癌。然而,最近的研究表明,这些突变也可能使携带者易患更广泛的恶性肿瘤,包括胆道癌、宫颈癌、结肠直肠癌、子宫内膜癌、食管癌和胃癌。本综述介绍了来自广泛数据集的发现,包括来自日本全国生物银行的一项重要研究,该研究检查了63828名患者和37086名对照者的癌症风险。我们的综述强调了显著的相关性,例如BRCA1突变携带者患子宫癌和宫颈癌的风险增加,BRCA2突变携带者患食道癌和胃癌的风险增加。这些新出现的关联强调了重新审视和潜在地扩展当前临床指南以纳入这些额外风险的必要性。这些发现提倡一种全面的遗传咨询方法,并强调了在携带BRCA突变的人群中定制癌症监测策略的重要性。这种扩大的认识可以显著影响预防、诊断和治疗策略,促进在遗传易感人群中管理和潜在预防这些恶性肿瘤的个性化方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Potential New Tumors Associated with Hereditary Breast and Ovarian Cancer (HBOC).

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.

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来源期刊
KEIO JOURNAL OF MEDICINE
KEIO JOURNAL OF MEDICINE MEDICINE, RESEARCH & EXPERIMENTAL-
CiteScore
3.10
自引率
0.00%
发文量
23
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