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- Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients
- Yoon Ju Bang, Won Kyung Kwon, Seok Jin Nam, Seok Won Kim, Byung-Joo Chae, Se Kyung Lee, Jai Min Ryu, Jong-Won Kim, Jonghan Yu, Jeong Eon Lee
- Cancer Res Treat. 2022;54(3):827-833. Published online October 13, 2021
- DOI: https://doi.org/10.4143/crt.2021.791
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Abstract
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Supplementary Material
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ePub - 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. -
Citations
Citations to this article as recorded by
- Cost-effectiveness of talazoparib for patients with germline BRCA1/2 mutated HER2-negative advanced breast cancer in China and the US
Junjie Pan, Ning Ren, Lanqi Ren, YiBei Yang, Qiaoping Xu
Scientific Reports.2024;[Epub] CrossRef - 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
Breast Cancer Research and Treatment.2024; 208(1): 155. CrossRef - Discovery of BRCA1/BRCA2 founder variants by haplotype analysis
Won Kyung Kwon, Hyeok-Jae Jang, Jeong Eon Lee, Yeon Hee Park, Jai Min Ryu, Jonghan Yu, Ja-Hyun Jang, Jong-Won Kim
Cancer Genetics.2022; 266-267: 19. CrossRef
- Cost-effectiveness of talazoparib for patients with germline BRCA1/2 mutated HER2-negative advanced breast cancer in China and the US
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- Hereditary Breast Cancer : Report of three families
- Hwan Young Yoo, Sun Whe Kim, Jae Gahb Park, Kuk Jin Choe
- J Korean Cancer Assoc. 1994;26(4):642-650.
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Abstract
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- Hereditary breast cancer (HBC) is known to comprise about 5% of all breast cancers. HBC is also known to have early age of onset, be usually bilateral, snd have genetic heterogeneity and verticaI transmission by autosomal dominant pattern. Authors experienced three Korean families with hereditary breast cancer, sa hereby report the cases. A 71-year old female patient (proband of family SNU-Bl) visited our clinic with the chief complaint of upper outer quadrant mass in right breast. She had the past medical history of right nephrectomy four years ago due to renal cell carcinoma. On family history patients younger sister died with uterine cancer. Patients daughter had modified radical mastectomy due to breast cancer at the age of 36 years. Other family members had no specific medical history. The second family (SNU-B2) had three breast cancer patients associated with gastrointestinal tract cancer patients; they occurred between sisters. Their father died with advanced gastric cancer at the age of 67 years, and two elder brothers of the sisters had lung cancer and rectal cancer, each. Other family member had no specific medical history. The third family (SNU-B3) involves twenty-five-year old female patient (proband of SNU- B3) who visited our clinic due to the bilateral breast masses. Mammography and subsectuent fine needle aspiration cytology revealed that both breast mass contained malignant cells. Uterine mass and mutiple solid and cystic left ovarian masses were found by pelvic ultrasonography. On family history, Patients mother had had metachronous bilateral breast cancers at the premenopausal age and died of multiple metastases, and patients sister was found ta have breast cancer. She discharged without treatment by her wilL With the progress of molecular biology, genetic meohanisms of HBC will be found. As HBC has different diagnostic and therapeutic implications, and careful history taking can reveal this entity, it may be the surgeonss responsibility to detect HBC.
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