Familial Breast Cancer: Disease Related Gene Mutations and Screening Strategies for Chinese Population

BackgroundAbout 5%–10% of the breast cancer cases have a hereditary background, and this subset is referred to as familial breast cancer (FBC). In this review, we summarize the susceptibility genes and genetic syndromes associated with FBC and discuss the FBC screening and high-risk patient consulti...

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Autores principales:	Lu Shen, Shizhen Zhang, Kaiyue Wang, Xiaochen Wang
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	family history familial breast cancer gene mutations genetic syndromes screening genetic counseling Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/bc7e4c8520644c18adc182612356fe3c
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spelling	oai:doaj.org-article:bc7e4c8520644c18adc182612356fe3c2021-12-01T22:23:37ZFamilial Breast Cancer: Disease Related Gene Mutations and Screening Strategies for Chinese Population2234-943X10.3389/fonc.2021.740227https://doaj.org/article/bc7e4c8520644c18adc182612356fe3c2021-12-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fonc.2021.740227/fullhttps://doaj.org/toc/2234-943XBackgroundAbout 5%–10% of the breast cancer cases have a hereditary background, and this subset is referred to as familial breast cancer (FBC). In this review, we summarize the susceptibility genes and genetic syndromes associated with FBC and discuss the FBC screening and high-risk patient consulting strategies for the Chinese population.MethodsWe searched the PubMed database for articles published between January 2000 and August 2021. Finally, 380 pieces of literature addressing the genes and genetic syndromes related to FBC were included and reviewed.ResultsWe identified 16 FBC-related genes and divided them into three types (high-, medium-, and low-penetrance) of genes according to their relative risk ratios. In addition, six genetic syndromes were found to be associated with FBC. We then summarized the currently available screening strategies for FBC and discussed those available for high-risk Chinese populations.ConclusionMultiple gene mutations and genetic disorders are closely related to FBC. The National Comprehensive Cancer Network (NCCN) guidelines recommend corresponding screening strategies for these genetic diseases. However, such guidelines for the Chinese population are still lacking. For screening high-risk groups in the Chinese population, genetic testing is recommended after genetic counseling.Lu ShenShizhen ZhangKaiyue WangXiaochen WangFrontiers Media S.A.articlefamily historyfamilial breast cancergene mutationsgenetic syndromesscreeninggenetic counselingNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENFrontiers in Oncology, Vol 11 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	family history familial breast cancer gene mutations genetic syndromes screening genetic counseling Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	family history familial breast cancer gene mutations genetic syndromes screening genetic counseling Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Lu Shen Shizhen Zhang Kaiyue Wang Xiaochen Wang Familial Breast Cancer: Disease Related Gene Mutations and Screening Strategies for Chinese Population
description	BackgroundAbout 5%–10% of the breast cancer cases have a hereditary background, and this subset is referred to as familial breast cancer (FBC). In this review, we summarize the susceptibility genes and genetic syndromes associated with FBC and discuss the FBC screening and high-risk patient consulting strategies for the Chinese population.MethodsWe searched the PubMed database for articles published between January 2000 and August 2021. Finally, 380 pieces of literature addressing the genes and genetic syndromes related to FBC were included and reviewed.ResultsWe identified 16 FBC-related genes and divided them into three types (high-, medium-, and low-penetrance) of genes according to their relative risk ratios. In addition, six genetic syndromes were found to be associated with FBC. We then summarized the currently available screening strategies for FBC and discussed those available for high-risk Chinese populations.ConclusionMultiple gene mutations and genetic disorders are closely related to FBC. The National Comprehensive Cancer Network (NCCN) guidelines recommend corresponding screening strategies for these genetic diseases. However, such guidelines for the Chinese population are still lacking. For screening high-risk groups in the Chinese population, genetic testing is recommended after genetic counseling.
format	article
author	Lu Shen Shizhen Zhang Kaiyue Wang Xiaochen Wang
author_facet	Lu Shen Shizhen Zhang Kaiyue Wang Xiaochen Wang
author_sort	Lu Shen
title	Familial Breast Cancer: Disease Related Gene Mutations and Screening Strategies for Chinese Population
title_short	Familial Breast Cancer: Disease Related Gene Mutations and Screening Strategies for Chinese Population
title_full	Familial Breast Cancer: Disease Related Gene Mutations and Screening Strategies for Chinese Population
title_fullStr	Familial Breast Cancer: Disease Related Gene Mutations and Screening Strategies for Chinese Population
title_full_unstemmed	Familial Breast Cancer: Disease Related Gene Mutations and Screening Strategies for Chinese Population
title_sort	familial breast cancer: disease related gene mutations and screening strategies for chinese population
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/bc7e4c8520644c18adc182612356fe3c
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_version_	1718404124351922176

Familial Breast Cancer: Disease Related Gene Mutations and Screening Strategies for Chinese Population

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