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

IF 3 3区医学 Q2 ONCOLOGY

Breast Cancer Research and Treatment Pub Date : 2024-11-01 Epub Date: 2024-06-20 DOI:10.1007/s10549-024-07409-4

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

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Abstract

Purpose: Despite 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.

Methods: Four 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.

Results: Four 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).

Conclusion: Chinese 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.

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BRCA1和BRCA2种系致病变异双杂合子中国乳腺癌患者的特征。

目的：BRCA1和BRCA2基因双杂合子（DH）变异的乳腺癌患者尽管非常罕见，但已在其他种族群体中发现，并且似乎与独特的表型相关。然而，人们对中国乳腺癌患者中 BRCA1/2 DH 变异的发生频率和临床特征知之甚少：方法：在一大批未经筛选的乳腺癌患者中，发现了 411 名与 BRCA1 或 BRCA2 致病变异体（PVs）无关的患者。另外两名患有同步性双侧乳腺癌的兄弟姐妹被转诊接受遗传咨询，之后检测出了 BRCA1/2 DH 变异：结果：在 411 例 BRCA1 或 BRCA2 PV 患者中，发现了 4 例 BRCA1/2 DH 变异的非亲属乳腺癌患者，BRCA1/2 DH 变异的频率为 0.97%。本研究共发现了来自五个家族的六名 BRCA1/2 DH 患者。在两个家族中，DH 的遗传模式被推测为来自家族双方。与 BRCA1（100% 对 29.2%，P = 0.004）或 BRCA2（100% 对 29.6%，P = 0.004）单一 PV 患者相比，BRCA1/2 DH 患者更有可能有乳腺癌家族史。与单个 BRCA2 PV 患者相比，BRCA1/2 DH 患者更有可能是三阴性乳腺肿瘤（66.7% vs. 14.1%，P = 0.020），这与单个 BRCA1 PV 患者的结果相当（66.7% vs. 56.9%，P = 1.00）：结论：中国的 BRCA1/2 DH 患者有较高比例的乳腺癌家族史。结论：BRCA1/2 DH携带者的家族史比例较高，BRCA1/2 DH携带者的肿瘤病理特征与BRCA1 PV携带者相似。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Breast Cancer Research and Treatment 医学-肿瘤学

CiteScore

6.80

自引率

2.60%

发文量

342

审稿时长

1 months

期刊介绍： Breast Cancer Research and Treatment provides the surgeon, radiotherapist, medical oncologist, endocrinologist, epidemiologist, immunologist or cell biologist investigating problems in breast cancer a single forum for communication. The journal creates a "market place" for breast cancer topics which cuts across all the usual lines of disciplines, providing a site for presenting pertinent investigations, and for discussing critical questions relevant to the entire field. It seeks to develop a new focus and new perspectives for all those concerned with breast cancer.