ArticleTranslational cancer research2019
Mutational analysis of BRCA1 and BRCA2 in northwest Chinese breast cancer patients.
Article in Translational cancer research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
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Who cites it
4 citing papers in PubMed, 1 synthesis or guideline pooled it, 4 citations in OpenAlex.
- Global prevalence and ethnic variation of pathogenic BRCA1/2 variants in breast cancer: a systematic review and meta-analysis.Journal of translational medicine · 2026Pooled it
- A report of novel inactivating missense mutations of BRCA1 detected in patients with acute myeloid leukemia.Journal of medical case reports · 2026Article
- DNA Damage and Its Role in Cancer Therapeutics.International journal of molecular sciences · 2023Review
- Preparing PAMAM-Gland surgery · 2021Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBRCA1 and BRCA2 are the most well-known susceptibility genes in breast cancer, indicating high-risk breast cancer families and influencing both treatment options. However, data of BRCA mutation in Chinese breast cancer population was limited. Here we explored the BRCA1/2 mutation status and analyzed their clinicopathological relationships among breast cancer patients with high hereditary risk in northwest China.
methodsBreast cancer patients admitted to Xijing Hospital, between November 2015 and May 2016, with high hereditary risk were recruited. Fresh peripheral venous blood samples were collected for BRCA1/2 gene screening. Risk factors for BRCA1/2 mutations were studied via single-factor analysis and multivariable logistic analysis. Furthermore, we reviewed the literature and discussed the possible mechanism of the mutant genome types.
resultsEighty-two patients were enrolled in the study. Twenty (24.4%) of them were found with BRCA1/2 mutation, including 8 BRCA1 mutation and 13 BRCA2 mutation. BRCA1 and BRCA2 co-mutation was observed in only one case. The mutant genome types included pathogenic variant (4/82), potential pathogenic variant (4/82), beneficial mutations (8/82), and chemotherapy sensitivity-related mutations (5/82). Prognosis-related mutations were enriched in
conclusionsThe incidence and feature of BRCA1/2 mutation in our center was similar to that in other regions. HER2 expression was independent factor for BRCA1 and BRCA2 mutation. BRCA2 T/-, BRCA2 A/-, BRCA2 G/- and BRCA2 C/-mutation subtypes might be potential harmful mutations for Chinese breast cancer population.
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