ArticleHuman molecular genetics2017
Rare germline variants in known melanoma susceptibility genes in familial melanoma.
Article in Human molecular genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
36 citing papers in PubMed, 48 citations in OpenAlex.
- Disruption of CTCF binding by germline non-coding variants inmedRxiv : the preprint server for health sciences · 2026Article
- Genetic Landscape of Familial Melanoma.Genes · 2025Review
- Beyond the BRCA1/2 genes in ovarian cancer: the role of germline pathogenic variants in the ATM gene.Molecular biology reports · 2025Article
- Prevalence and outcomes of cancer and treatment-associated toxicities for patients with ataxia telangiectasia.The Journal of allergy and clinical immunology · 2025Article
- Germline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma.Pigment cell & melanoma research · 2025Article
- Review
- The ATM Ser49Cys Variant Effects ATM Function as a Regulator of Oncogene-Induced Senescence.International journal of molecular sciences · 2024Article
- Scaled Process Priors for Bayesian Nonparametric Estimation of the Unseen Genetic Variation.Journal of the American Statistical Association · 2024Article
- Case report: GermlineFrontiers in oncology · 2024Article
- Heterozygous Pathogenic Nonsense Variant in theBiomedicines · 2023Article
- Disruptor: Computational identification of oncogenic mutants disrupting protein-protein and protein-DNA interactions.Communications biology · 2023Article
- AtypicalFrontiers in oncology · 2023Article
- Genomic analysis of a Palestinian family with inherited cancer syndrome: a next-generation sequencing study.Frontiers in genetics · 2023Article
- Gene-Level Associations in Patients With and Without Pathogenic Germline Variants inJCO precision oncology · 2022Article
- Rare germline deleterious variants increase susceptibility for lung cancer.Human molecular genetics · 2022Article
- Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma.Human mutation · 2022Article
- Integrated Analysis of Coexpression and Exome Sequencing to Prioritize Susceptibility Genes for Familial Cutaneous Melanoma.The Journal of investigative dermatology · 2022Article
- First international workshop of the ATM and cancer risk group (4-5 December 2019).Familial cancer · 2022Review
- Article
- Novel loss-of-function variant in DENND5A impedes melanosomal cargo transport and predisposes to familial cutaneous melanoma.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
Corrections and comments
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Authors and funding
24 authors at 7 institutions in 1 country.
Funding
Abstract
Known high-risk cutaneous malignant melanoma (CMM) genes account for melanoma risk in <40% of melanoma-prone families, suggesting the existence of additional high-risk genes or perhaps a polygenic mechanism involving multiple genetic modifiers. The goal of this study was to systematically characterize rare germline variants in 42 established melanoma genes among 144 CMM patients in 76 American CMM families without known mutations using data from whole-exome sequencing. We identified 68 rare (<0.1% in public and in-house control datasets) nonsynonymous variants in 25 genes. We technically validated all loss-of-function, inframe insertion/deletion, and missense variants predicted as deleterious, and followed them up in 1, 559 population-based CMM cases and 1, 633 controls. Several of these variants showed disease co-segregation within families. Of particular interest, a stopgain variant in TYR was present in five of six CMM cases/obligate gene carriers in one family and a single population-based CMM case. A start gain variant in the 5'UTR region of PLA2G6 and a missense variant in ATM were each seen in all three affected people in a single family, respectively. Results from rare variant burden tests showed that familial and population-based CMM patients tended to have higher frequencies of rare germline variants in albinism genes such as TYR, TYRP1, and OCA2 (P < 0.05). Our results suggest that rare nonsynonymous variants in low- or intermediate-risk CMM genes may influence familial CMM predisposition, warranting further investigation of both common and rare variants in genes affecting functionally important pathways (such as melanogenesis) in melanoma risk assessment.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.