ArticleMedical oncology (Northwood, London, England)2014
Development of breast tumors in CHEK2, NBN/NBS1 and BLM mutation carriers does not commonly involve somatic inactivation of the wild-type allele.
Article in Medical oncology (Northwood, London, England), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2023Guideline
- Breast-Ovarian Hereditary Cancer Syndrome: BeyondCurrent oncology (Toronto, Ont.) · 2026Review
- Genetic Analysis of Multiple Primary Malignant Tumors in Women with Breast and Ovarian Cancer.International journal of molecular sciences · 2023Article
- Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants.Journal of the National Cancer Institute · 2023Article
- Somatic loss of the remaining allele occurs approximately in half of CHEK2-driven breast cancers and is accompanied by a border-line increase of chromosomal instability.Breast cancer research and treatment · 2022Article
- Homologous Recombination Deficiency in Ovarian, Breast, Colorectal, Pancreatic, Non-Small Cell Lung and Prostate Cancers, and the Mechanisms of Resistance to PARP Inhibitors.Frontiers in oncology · 2022Review
- Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects.NPJ breast cancer · 2021Article
- Small fraction of testicular cancer cases may be causatively related to CHEK2 inactivating germ-line mutations: evidence for somatic loss of the remaining CHEK2 allele in the tumor tissue.Familial cancer · 2021Article
- Heterozygous germlineProceedings of the National Academy of Sciences of the United States of America · 2020Article
- miR‑27b‑3p and miR‑607 cooperatively regulate BLM gene expression by directly targeting the 3'‑UTR in PC3 cells.Molecular medicine reports · 2019Article
- Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germlineCold Spring Harbor molecular case studies · 2017Article
- Cytotoxic and targeted therapy for hereditary cancers.Hereditary cancer in clinical practice · 2016Review
- Genomic profiling of CHEK2*1100delC-mutated breast carcinomas.BMC cancer · 2015Article
- Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer.Scientific reports · 2015Article
- DNA repair genes implicated in triple negative familial non-BRCA1/2 breast cancer predisposition.American journal of cancer research · 2015Article
- The DNA2 nuclease/helicase is an estrogen-dependent gene mutated in breast and ovarian cancers.Oncotarget · 2014Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Somatic inactivation of the remaining allele is a characteristic feature of cancers arising in BRCA1 and BRCA2 mutation carriers, which determines their unprecedented sensitivity to some DNA-damaging agents. Data on tumor-specific status of the involved gene in novel varieties of hereditary breast cancer (BC) remain incomplete. We analyzed 32 tumors obtained from 30 patients with non-BRCA1/2 BC-associated germ-line mutations: 25 women were single mutation carriers (7 BLM, 15 CHEK2 and 3 NBN/NBS1) and 5 were double mutation carriers (2 BLM/BRCA1, 1 CHEK2/BLM, 1 CHEK2/BRCA1 and 1 NBN/BLM). Losses of heterozygosity affecting the wild-type allele were detected in none of the tumors from BLM mutation carriers, 3/18 (17 %) CHEK2-associated BC and 1/4 (25 %) NBN/NBS1-driven tumors. The remaining 28 BC were subjected to the sequence analysis of entire coding region of the involved gene; no somatic mutations were identified. We conclude that the tumor-specific loss of the wild-type allele is not characteristic for BC arising in CHEK2, NBN/NBS1 and BLM mutation carriers. Rarity of "second-hit" inactivation of the involved gene in CHEK2-, NBN/NBS1- and BLM-associated BC demonstrates their substantial biological difference from BRCA1/2-driven cancers and makes them poorly suitable for the clinical trials with cisplatin and PARP inhibitors.
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