Evidence map›Paper›PMID 38900213›Full record

ArticleBreast cancer research and treatment2024

Characteristics of Chinese breast cancer patients with double heterozygosity for BRCA1 and BRCA2 germline pathogenic variants.

Song Wen, Meng Zhang, Jiuan Chen, Li Hu, Jie Sun, Lu Yao, Ye Xu, Juan Zhang, Yuntao Xie

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Article in Breast cancer research and treatment, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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0cells of the map it votes in
2citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. RareOncology letters · 2026
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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Song Wen *Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Familial and Hereditary Cancer Center, Peking University Cancer Hospital and Institute, Beijing, China.
Meng Zhang *Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Department of Molecular Diagnostics, Peking University Cancer Hospital and Institute, Beijing, China.
Jiuan ChenKey Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Familial and Hereditary Cancer Center, Peking University Cancer Hospital and Institute, Beijing, China.
Li HuKey Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Familial and Hereditary Cancer Center, Peking University Cancer Hospital and Institute, Beijing, China.
Jie SunKey Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Familial and Hereditary Cancer Center, Peking University Cancer Hospital and Institute, Beijing, China.
Lu YaoKey Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Familial and Hereditary Cancer Center, Peking University Cancer Hospital and Institute, Beijing, China.
Ye XuKey Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Familial and Hereditary Cancer Center, Peking University Cancer Hospital and Institute, Beijing, China.
Juan ZhangKey Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Familial and Hereditary Cancer Center, Peking University Cancer Hospital and Institute, Beijing, China. zhangjuan100@bjmu.edu.cn.
Yuntao XieKey Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Familial and Hereditary Cancer Center, Peking University Cancer Hospital and Institute, Beijing, China. zlxyt2@bjmu.edu.cn.

Funding

the National Natural Science Foundation of China 81772932the National Natural Science Foundation of China 81773209the National Natural Science Foundation of China 82072898
6 · The paper itself

Abstract

purposeDespite of very rare, breast cancer patients with double heterozygosity (DH) variants in BRCA1 and BRCA2 genes have been identified in other ethnic groups and seem to be associated with distinctive phenotypes. However, little is known about the frequency and clinical characteristics of Chinese breast cancer patients with BRCA1/2 DH variants.

methodsFour hundred and eleven unrelated patients with BRCA1 or BRCA2 pathogenic variants (PVs) were identified in a large series of unselected breast cancer patients. Another two siblings with metachronous bilateral breast cancer were referred for genetic counseling, after which BRCA1/2 DH variants were detected.

resultsFour unrelated breast cancer patients with BRCA1/2 DH were identified in the cohort of 411 patients with BRCA1 or BRCA2 PVs, the frequency of BRCA1/2 DH was 0.97%. In total, six BRCA1/2 DH patients from five families were found in this study. In two families, the hereditary pattern of DH was speculated to have originated from both sides of the family. BRCA1/2 DH patients were more likely to have a family history of breast cancer than patients with a BRCA1 (100% vs. 29.2%, P = 0.004) or BRCA2 (100% vs. 29.6%, P = 0.004) single PV. BRCA1/2 DH patients were more likely to be triple-negative breast tumors than patients with single BRCA2 PVs (66.7% vs. 14.1%, P = 0.020), which was comparable to the findings in patients with single BRCA1 PVs (66.7% vs. 56.9%, P = 1.00).

conclusionChinese patients with BRCA1/2 DH exhibit a high percentage of family history of breast cancer. The tumor pathological features of BRCA1/2 DH carriers are similar to those of BRCA1 PV carriers.

Indexed as

BRCA1 ProteinBRCA2 ProteinBreast NeoplasmsGenetic Predisposition to DiseaseGerm-Line MutationAdultAgedChinaEast Asian PeopleFemaleHeterozygoteHumansMiddle AgedPedigreeBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanBRCA1BRCA2Double heterozygosityHereditary breast cancer

Identifiers

PMID38900213

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.