Understanding genetic variations associated with familial breast cancer.

IF 2.5 3区医学 Q3 ONCOLOGY

World Journal of Surgical Oncology Pub Date : 2024-10-10 DOI:10.1186/s12957-024-03553-9

Manjusha Pal, Doutrina Das, Manoj Pandey

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引用次数: 0

Abstract

Background: Breast cancer is the most frequent cancer among women. Genetics are the main risk factor for breast cancer. Statistics show that 15-25% of breast cancers are inherited among those with cancer-prone relatives. BRCA1, BRCA2, TP53, CDH1, PTEN, and STK11 are the most frequent genes for familial breast cancer, which occurs 80% of the time. In rare situations, moderate-penetrance gene mutations such CHEK2, BRIP1, ATM, and PALB2 contribute 2-3%.

Methods: A search of the PubMed database was carried out spanning from 2005 to July 2024, yielding a total of 768 articles that delve into the realm of familial breast cancer, concerning genes and genetic syndromes. After exclusion 150 articles were included in the final review.

Results: We report on a set of 20 familial breast cancer -associated genes into high, moderate, and low penetrance levels. Additionally, 10 genetic disorders were found to be linked with familial breast cancer.

Conclusion: Familial breast cancer has been linked to several genetic diseases and mutations, according to studies. Screening for genetic disorders is recommended by National Comprehensive Cancer Network recommendations. Evaluation of breast cancer candidate variations and risk loci may improve individual risk assessment. Only high- and moderate-risk gene variations have clinical guidelines, whereas low-risk gene variants require additional investigation. With increasing use of NGS technology, more linkage with rare genes is being discovered.

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了解与家族性乳腺癌相关的基因变异。

背景：乳腺癌是女性最常见的癌症：乳腺癌是女性中最常见的癌症。遗传是乳腺癌的主要风险因素。据统计，在有癌症易感亲属的人群中，15%-25% 的乳腺癌是遗传的。BRCA1、BRCA2、TP53、CDH1、PTEN 和 STK11 是家族性乳腺癌最常见的基因，发生率高达 80%。在极少数情况下，CHEK2、BRIP1、ATM 和 PALB2 等中度风险基因突变占 2-3%：方法：对 PubMed 数据库进行了搜索，搜索时间跨度为 2005 年至 2024 年 7 月，共搜索到 768 篇涉及家族性乳腺癌基因和遗传综合征的文章。经过筛选，150 篇文章被纳入最终审查：结果：我们报告了一组 20 个与家族性乳腺癌相关的基因，这些基因的渗透率分为高、中、低三个等级。此外，还发现 10 种遗传疾病与家族性乳腺癌有关：结论：研究表明，家族性乳腺癌与多种遗传疾病和基因突变有关。美国国家综合癌症网络建议对遗传疾病进行筛查。对乳腺癌候选变异和风险位点的评估可改善个体风险评估。只有高风险和中度风险基因变异才有临床指南，而低风险基因变异则需要额外的调查。随着 NGS 技术的日益广泛应用，发现了更多与罕见基因的关联。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

World Journal of Surgical Oncology ONCOLOGY-SURGERY

CiteScore

4.70

自引率

15.60%

发文量

362

审稿时长

3 months

期刊介绍： World Journal of Surgical Oncology publishes articles related to surgical oncology and its allied subjects, such as epidemiology, cancer research, biomarkers, prevention, pathology, radiology, cancer treatment, clinical trials, multimodality treatment and molecular biology. Emphasis is placed on original research articles. The journal also publishes significant clinical case reports, as well as balanced and timely reviews on selected topics. Oncology is a multidisciplinary super-speciality of which surgical oncology forms an integral component, especially with solid tumors. Surgical oncologists around the world are involved in research extending from detecting the mechanisms underlying the causation of cancer, to its treatment and prevention. The role of a surgical oncologist extends across the whole continuum of care. With continued developments in diagnosis and treatment, the role of a surgical oncologist is ever-changing. Hence, World Journal of Surgical Oncology aims to keep readers abreast with latest developments that will ultimately influence the work of surgical oncologists.