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BRCA1/2 mutation spectrum in Chinese early-onset breast cancer

BACKGROUND: Breast cancer is the most commonly diagnosed cancer among women. Although many studies have reported the BRCA mutations among breast cancer patients, few studies have focused among Chinese early-onset breast cancer patients. The purpose of this study is to identify BRCA1 and BRCA2 mutati...

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Autores principales: Shen, Mengjia, Yang, Libo, Lei, Ting, Xiao, Lin, Li, Li, Zhang, Peichuan, Feng, Weiyi, Ye, Feng, Bu, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8798914/
https://www.ncbi.nlm.nih.gov/pubmed/35116780
http://dx.doi.org/10.21037/tcr.2019.03.02
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author Shen, Mengjia
Yang, Libo
Lei, Ting
Xiao, Lin
Li, Li
Zhang, Peichuan
Feng, Weiyi
Ye, Feng
Bu, Hong
author_facet Shen, Mengjia
Yang, Libo
Lei, Ting
Xiao, Lin
Li, Li
Zhang, Peichuan
Feng, Weiyi
Ye, Feng
Bu, Hong
author_sort Shen, Mengjia
collection PubMed
description BACKGROUND: Breast cancer is the most commonly diagnosed cancer among women. Although many studies have reported the BRCA mutations among breast cancer patients, few studies have focused among Chinese early-onset breast cancer patients. The purpose of this study is to identify BRCA1 and BRCA2 mutation features and their clinical significance of early-onset Chinese breast cancer patients. METHODS: A total of 54 female patients diagnosed with breast cancer were enrolled in this study, of which 27 were younger than 40 (study group, mean age 32 years, range, 23–40 years) and 27 were older than 40 (control group, mean age 52 years, range, 41–68 years). Tumor FFPE samples were collected for somatic mutation test, while blood samples or normal tissue were used for germline mutation by both PGM and Miseq platform. All codon exons and functional introns for BRCA1/2 were covered. The clinical significance of mutation types was cross analyzed in several available database. The novel mutations were confirmed by sanger sequencing. RESULTS: In study group, 14.8% (4/27) and 3.7% (1/27) patients had deleterious BRCA1/2 germline and somatic mutations respectively. While in control group, only 3.7% (1/27) and 7.4% (2/27) had deleterious BRCA1/2 germline and somatic mutations respectively. BRCA1 germline mutation c.2623C>T and BRCA2 germline mutation c.5852G>A were found to be novel mutation sites and confirmed by sanger sequencing. CONCLUSIONS: Our study found two novel BRCA1/2 mutation sites in early-onset breast cancer, and also showed that early-onset breast cancer patients are more likely to harbor germline mutations with deleterious and uncertain significance.
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spelling pubmed-87989142022-02-02 BRCA1/2 mutation spectrum in Chinese early-onset breast cancer Shen, Mengjia Yang, Libo Lei, Ting Xiao, Lin Li, Li Zhang, Peichuan Feng, Weiyi Ye, Feng Bu, Hong Transl Cancer Res Original Article BACKGROUND: Breast cancer is the most commonly diagnosed cancer among women. Although many studies have reported the BRCA mutations among breast cancer patients, few studies have focused among Chinese early-onset breast cancer patients. The purpose of this study is to identify BRCA1 and BRCA2 mutation features and their clinical significance of early-onset Chinese breast cancer patients. METHODS: A total of 54 female patients diagnosed with breast cancer were enrolled in this study, of which 27 were younger than 40 (study group, mean age 32 years, range, 23–40 years) and 27 were older than 40 (control group, mean age 52 years, range, 41–68 years). Tumor FFPE samples were collected for somatic mutation test, while blood samples or normal tissue were used for germline mutation by both PGM and Miseq platform. All codon exons and functional introns for BRCA1/2 were covered. The clinical significance of mutation types was cross analyzed in several available database. The novel mutations were confirmed by sanger sequencing. RESULTS: In study group, 14.8% (4/27) and 3.7% (1/27) patients had deleterious BRCA1/2 germline and somatic mutations respectively. While in control group, only 3.7% (1/27) and 7.4% (2/27) had deleterious BRCA1/2 germline and somatic mutations respectively. BRCA1 germline mutation c.2623C>T and BRCA2 germline mutation c.5852G>A were found to be novel mutation sites and confirmed by sanger sequencing. CONCLUSIONS: Our study found two novel BRCA1/2 mutation sites in early-onset breast cancer, and also showed that early-onset breast cancer patients are more likely to harbor germline mutations with deleterious and uncertain significance. AME Publishing Company 2019-04 /pmc/articles/PMC8798914/ /pubmed/35116780 http://dx.doi.org/10.21037/tcr.2019.03.02 Text en 2019 Translational Cancer Research. All rights reserved. https://creativecommons.org/licenses/by-nc-nd/4.0/Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.
spellingShingle Original Article
Shen, Mengjia
Yang, Libo
Lei, Ting
Xiao, Lin
Li, Li
Zhang, Peichuan
Feng, Weiyi
Ye, Feng
Bu, Hong
BRCA1/2 mutation spectrum in Chinese early-onset breast cancer
title BRCA1/2 mutation spectrum in Chinese early-onset breast cancer
title_full BRCA1/2 mutation spectrum in Chinese early-onset breast cancer
title_fullStr BRCA1/2 mutation spectrum in Chinese early-onset breast cancer
title_full_unstemmed BRCA1/2 mutation spectrum in Chinese early-onset breast cancer
title_short BRCA1/2 mutation spectrum in Chinese early-onset breast cancer
title_sort brca1/2 mutation spectrum in chinese early-onset breast cancer
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8798914/
https://www.ncbi.nlm.nih.gov/pubmed/35116780
http://dx.doi.org/10.21037/tcr.2019.03.02
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