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Clinical and Pathological Characteristics of Patients with High-Risk Breast Cancer Based on BRCA Mutation Profiles: A Retrospective Study.基于BRCA突变谱的高危乳腺癌患者的临床和病理特征：一项回顾性研究
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Lancet Oncol. 2018 Feb;19(2):169-180. doi: 10.1016/S1470-2045(17)30891-4. Epub 2018 Jan 11.
3
Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.基于韩国的临床证据，BRCA1基因c.5339T>C（p.L1780P）变异的分类从“意义未明”变更为“可能致病”。
Breast. 2017 Jun;33:109-116. doi: 10.1016/j.breast.2017.03.006. Epub 2017 Mar 30.
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韩国乳腺癌患者中BRCA1和BRCA2基因变异双重杂合性的临床病理特征

Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients.

作者信息

Bang Yoon Ju, Kwon Won Kyung, Nam Seok Jin, Kim Seok Won, Chae Byung-Joo, Lee Se Kyung, Ryu Jai Min, Kim Jong-Won, Yu Jonghan, Lee Jeong Eon

机构信息

Division of Breast Surgery, Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Department of Laboratory and Genetics, Sungkyunkwan University School of Medicine, Seoul, Korea.

出版信息

Cancer Res Treat. 2022 Jul;54(3):827-833. doi: 10.4143/crt.2021.791. Epub 2021 Oct 13.

DOI:10.4143/crt.2021.791
PMID:34645131
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9296941/
Abstract

PURPOSE

Double heterozygosity (DH) for BRCA1 and BRCA2 variant is very rare with only a few cases reported, and most those in Caucasians. In this article, we present seven unrelated cases of DH for BRCA1/2 identified from a single institution in Korea, and describe the characteristics and phenotype of DH individuals compared to those with a single BRCA variant.

MATERIALS AND METHODS

This study included 27,678 patients diagnosed with breast cancer and surgically treated at Samsung Medical Center (SMC) between January 2008 and June 2020. In total, 4,215 high-risk breast cancer patients were tested for the BRCA1/2 genes, and electronic medical records from 456 cases with pathogenic/likely pathogenic variants (PVs/LPVs) were reviewed.

RESULTS

A younger mean age at diagnosis was associated with DH than a single variant of BRCA1/2. More triple-negative breast cancer (TNBC) and higher nuclear and histologic grade cancer occurred with DH than BRCA2 variant. All 7 cases of DH were unrelated, and their mutation combinations were different. There were no Ashkenazi founder variants detected.

CONCLUSION

We suggest that patients with DH for BRCA1/2 variants develop breast cancer at a younger age, but the histopathologic features are similar to those of BRCA1.

摘要

目的

BRCA1和BRCA2基因变异的双重杂合性（DH）非常罕见，仅有少数病例报道，且大多数为白种人。在本文中，我们展示了从韩国一家机构鉴定出的7例无关的BRCA1/2双重杂合病例，并描述了与单一BRCA变异患者相比，双重杂合个体的特征和表型。

材料与方法

本研究纳入了2008年1月至2020年6月期间在三星医疗中心（SMC）诊断为乳腺癌并接受手术治疗的27,678例患者。总共对4,215例高危乳腺癌患者进行了BRCA1/2基因检测，并回顾了456例具有致病性/可能致病性变异（PVs/LPVs）病例的电子病历。

结果

与BRCA1/2单一变异相比，双重杂合患者的诊断平均年龄更小。与BRCA2变异相比，双重杂合患者中三阴性乳腺癌（TNBC）更多见，且核分级和组织学分级更高的癌症更多。所有7例双重杂合病例均无亲缘关系，且其突变组合不同。未检测到阿什肯纳兹始祖变异。

结论

我们认为，BRCA1/2基因变异双重杂合的患者患乳腺癌的年龄更小，但组织病理学特征与BRCA1相似。