Response to Maya et al
- PMID: 32341575
- DOI: 10.1038/s41436-020-0796-3
Response to Maya et al
Comment on
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High-frequency low-penetrance copy-number variant classification: should we revise the existing guidelines?Genet Med. 2020 Jul;22(7):1276-1277. doi: 10.1038/s41436-020-0795-4. Epub 2020 Apr 28. Genet Med. 2020. PMID: 32341574 No abstract available.
References
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- Maya I, Basel-Salmon L, Singer A, Sagi-Dain L. High frequency low penetrance copy number variant classification: should we revise the existing guidelines? Genet Med. 2020.
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- Riggs ER, Andersen EF, Cherry AM, et al. Technical standards for the interpretation and reporting of constitutional copy-number variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020;22:245–257. - DOI
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- Decker B, Allen J, Luccarini C, et al. Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. J Med Genet. 2017;54:732–741. - DOI
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- CHEK2 Breast Cancer Case-Control Consortium. CHEK2*1100delC and susceptibility to breast cancer: A collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet. 2004;74:1175–1182. - DOI
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- Liang J, Lin C, Hu F, et al. APC polymorphisms and the risk of colorectal neoplasia: a HuGE review and meta-analysis. Am J Epidemiol. 2013;177:1169–1179. - DOI
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