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BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers
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Complete loss of BRCA1 or BRCA2 function is associated with sensitivity to DNA damaging agents. However, not all BRCA1 and BRCA2 germline mutation-associated tumors respond. Herein we report analyses of 160 BRCA1 and BRCA2 germline mutation-associated breast and ovarian tumors. Retention of the normal BRCA1 or BRCA2 allele (absence of locus-specific loss of heterozygosity (LOH)) is observed in 7% of BRCA1 ovarian, 16% of BRCA2 ovarian, 10% of BRCA1 breast, and 46% of BRCA2 breast tumors. These tumors have equivalent homologous recombination deficiency scores to sporadic tumors, significantly lower than scores in tumors with locus-specific LOH (ovarian, P = 0.0004; breast P < 0.0001, two-tailed Student’s t -test). Absence of locus-specific LOH is associated with decreased overall survival in ovarian cancer patients treated with platinum chemotherapy ( P = 0.01, log-rank test). Locus-specific LOH may be a clinically useful biomarker to predict primary resistance to DNA damaging agents in patients with germline BRCA1 and BRCA2 mutations.
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Only two of 22 (9% versus 46%) BRCA2-carrier tumours lacked biallelic inactivation; one was BRCA-deficient due to biallelic BRCA1 inactivation, and the other was BRCA-proficient and unlikely to benefit from such therapies.
“In contrast to a recent report, only two tumours (2/22, 9% versus 46% [5]) from BRCA2 carriers did not exhibit biallelic inactivation of the gene; one tumour was BRCA-deficient due to the biallelic inactivation of BRCA1, whereas the other was BRCA-proficient, and hence this latter patient would be unlikely to benefit from such therapies.”
From Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers (2019) · cites this paper as [5]
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“In contrast to a recent report, only two tumours (2/22, 9% versus 46% [5]) from BRCA2 carriers did not exhibit biallelic inactivation of the gene; one tumour was BRCA-deficient due to the biallelic inactivation of BRCA1, whereas the other was BRCA-proficient, and hence this latter patient would be unlikely to benefit…”
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Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions
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Cytotoxic and targeted therapy for BRCA1/2-driven cancers
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Metadata
- Authors
- Maxwell, K. N., Wubbenhorst, B., Wenz, B. M., De Sloover, D., Pluta, J., Emery, L., Barrett, A., Kraya, A. A., Anastopoulos, I. N., Yu, S., Jiang, Y., Chen, H., Zhang, N. R., Hackman, N., D’Andrea, K., Daber, R., Morrissette, J. J. D., Mitra, N., Feldman, M., Domchek, S. M., & Nathanson, K. L.
- Affiliations
- University of Pennsylvania (US)
- University of California, Davis (US)
- Abramson Cancer Center (US)
- Corresponding author
- Nathanson, Katherine L.
- ORCID
- Venue
- Nature Communications
- Published
- 2017-08-22
- Volume
- 8
- Issue
- 1
- Pages
- 319-319
- ISSN
- 2041-1723 (ISSN-L)
- PMC
- PMC5567274
- OpenAlex
- W2748606465
- Cited by
- 296
- References
- 70
- Citations by year
- 2026: 21 · 2025: 26 · 2024: 36 · 2023: 36 · 2022: 38 · 2021: 41 · 2020: 46 · 2019: 28 · 2018: 21 · 2017: 2
- FWCI
- 17.56
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Nature Communications (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- eScholarship (California Digital Library) (submittedVersion, cc-by)
- Funders
- U.S. Department of Defense (W81XWH, W81XWH1310338, W81XWH-13)
- University of Pennsylvania
- National Institutes of Health (W81XWH)
- National Institute of General Medical Sciences (T32GM008638)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Medicine › Oncology › PARP inhibition in cancer therapy
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Keywords
- BRCA1, BRCA2, germline mutations, loss of heterozygosity, breast cancer, ovarian cancer, homologous recombination deficiency, DNA damage response, overall survival, tumor markers
- MeSH terms
- Adult, Aged, Breast Neoplasms, Female, Humans, Middle Aged, Ovarian Neoplasms, Promoter Regions, Genetic, Proportional Hazards Models, Outcome Assessment, Health Care, Germ-Line Mutation, DNA Methylation, BRCA1 Protein, Loss of Heterozygosity, BRCA2 Protein, Kaplan-Meier Estimate
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