mutation status and pathological characterization of breast cancer in Zhoushan Islands, China

Objective To investigate BRCA1 / 2 gene mutations and their relationship with clinicopathological features in patients with breast cancer in Zhoushan Islands. Methods High-throughput whole-exome gene sequencing was used to detect BRCA1 / 2 mutations in 776 breast cancer patients in Zhoushan Islands....

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Main Authors: Shuhui Bao, Nini Sun, Yaling Li, Jiaojie Shu, Jing Xu, Yong Zhang, Xia Qiu
Format: Article
Language:English
Published: SAGE Publishing 2024-01-01
Series:Journal of International Medical Research
Online Access:https://doi.org/10.1177/03000605231223426
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author Shuhui Bao
Nini Sun
Yaling Li
Jiaojie Shu
Jing Xu
Yong Zhang
Xia Qiu
author_facet Shuhui Bao
Nini Sun
Yaling Li
Jiaojie Shu
Jing Xu
Yong Zhang
Xia Qiu
author_sort Shuhui Bao
collection DOAJ
description Objective To investigate BRCA1 / 2 gene mutations and their relationship with clinicopathological features in patients with breast cancer in Zhoushan Islands. Methods High-throughput whole-exome gene sequencing was used to detect BRCA1 / 2 mutations in 776 breast cancer patients in Zhoushan Islands. Results The BRCA1 / 2 mutation rate of breast cancer patients in Zhoushan Islands was 4.38% (34/776). BRCA1 mutations were significantly correlated with age, molecular type, and family history of breast and ovarian cancers. BRCA2 mutations were most commonly found in invasive lobular carcinoma. Moreover, the BRCA2 mutation rate of cancers with molecular type luminal B (receptor protein–tyrosine kinase [HER2]-negative) was also relatively high. Conclusion The rate of BRCA1 / 2 mutations in breast cancer patients from Zhoushan Islands is approximately 4.38%, and BRCA1 mutation is related to age, molecular type, and family history of breast and ovarian cancers.
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spelling doaj.art-74a1610156d142e98eced99995023f532024-01-24T12:04:02ZengSAGE PublishingJournal of International Medical Research1473-23002024-01-015210.1177/03000605231223426 mutation status and pathological characterization of breast cancer in Zhoushan Islands, ChinaShuhui BaoNini SunYaling LiJiaojie ShuJing XuYong ZhangXia QiuObjective To investigate BRCA1 / 2 gene mutations and their relationship with clinicopathological features in patients with breast cancer in Zhoushan Islands. Methods High-throughput whole-exome gene sequencing was used to detect BRCA1 / 2 mutations in 776 breast cancer patients in Zhoushan Islands. Results The BRCA1 / 2 mutation rate of breast cancer patients in Zhoushan Islands was 4.38% (34/776). BRCA1 mutations were significantly correlated with age, molecular type, and family history of breast and ovarian cancers. BRCA2 mutations were most commonly found in invasive lobular carcinoma. Moreover, the BRCA2 mutation rate of cancers with molecular type luminal B (receptor protein–tyrosine kinase [HER2]-negative) was also relatively high. Conclusion The rate of BRCA1 / 2 mutations in breast cancer patients from Zhoushan Islands is approximately 4.38%, and BRCA1 mutation is related to age, molecular type, and family history of breast and ovarian cancers.https://doi.org/10.1177/03000605231223426
spellingShingle Shuhui Bao
Nini Sun
Yaling Li
Jiaojie Shu
Jing Xu
Yong Zhang
Xia Qiu
mutation status and pathological characterization of breast cancer in Zhoushan Islands, China
Journal of International Medical Research
title mutation status and pathological characterization of breast cancer in Zhoushan Islands, China
title_full mutation status and pathological characterization of breast cancer in Zhoushan Islands, China
title_fullStr mutation status and pathological characterization of breast cancer in Zhoushan Islands, China
title_full_unstemmed mutation status and pathological characterization of breast cancer in Zhoushan Islands, China
title_short mutation status and pathological characterization of breast cancer in Zhoushan Islands, China
title_sort mutation status and pathological characterization of breast cancer in zhoushan islands china
url https://doi.org/10.1177/03000605231223426
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AT jingxu mutationstatusandpathologicalcharacterizationofbreastcancerinzhoushanislandschina
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