ArticleOphthalmology2020
Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma.
Article in Ophthalmology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
30 citing papers in PubMed, 2 syntheses or guidelines pooled it, 43 citations in OpenAlex.
- GWAS meta-analysis provides new insights into uveal melanoma risk.British journal of cancer · 2026Pooled it
- Multiple neoplasms in patients with uveal melanoma: a systematic review.International ophthalmology · 2024Pooled it
- Impact of Multigene Panel Testing in High-Risk Uveal Melanoma Patients.Pigment cell & melanoma research · 2026Article
- Genomic ascertainment ofmedRxiv : the preprint server for health sciences · 2026Article
- One hotspotFrontiers in oncology · 2026Article
- Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma.Pigment cell & melanoma research · 2025Article
- Short Report: The Variants inJournal of clinical medicine · 2025Article
- Identification of new candidate genes for the hereditary predisposition to uveal melanoma: IGCMU trial.Frontiers in oncology · 2025Article
- Germline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma.Pigment cell & melanoma research · 2025Article
- Pathogenic Germline Variants in Uveal Melanoma Driver and BAP1-Associated Genes in Finnish Patients with Uveal Melanoma.Pigment cell & melanoma research · 2025Article
- NovelInternational journal of molecular sciences · 2024Article
- Current Insights into the Role of UV Radiation-Induced Oxidative Stress in Melanoma Pathogenesis.International journal of molecular sciences · 2024Review
- Review
- Bilateral Uveal Melanoma: An Insight into Genetic Predisposition in Four New Unrelated Patients and Review of Published Cases.Journal of clinical medicine · 2024Article
- Impact of Choroidal Melanoma Characteristics on Progression-Free Survival in Patients Undergoing Hypofractionated Stereotactic Photon Radiotherapy.Ophthalmology and therapy · 2023Article
- Review
- DNA damage response signaling: A common link between cancer and cardiovascular diseases.Cancer medicine · 2023Review
- Genetics and RNA Regulation of Uveal Melanoma.Cancers · 2023Review
- From Samples to Germline and Somatic Sequence Variation: A Focus on Next-Generation Sequencing in Melanoma Research.Life (Basel, Switzerland) · 2022Review
- Review
Corrections and comments
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Authors and funding
24 authors at 6 institutions in 3 countries.
Funding
Abstract
purposeTo identify susceptibility genes associated with hereditary predisposition to uveal melanoma (UM) in patients with no detectable germline BAP1 alterations.
designRetrospective case series from academic referral centers.
participantsCohort of 154 UM patients with high risk of hereditary cancer defined as patients with 1 or more of the following: (1) familial UM, (2) young age (<35 years) at diagnosis, (3) personal history of other primary cancers, and (4) family history of 2 or more primary cancers with no detectable mutation or deletion in BAP1 gene.
methodsWhole exome sequencing, a cancer gene panel, or both were carried out. Probands included 27 patients with familial UM, 1 patient with bilateral UM, 1 patient with congenital UM, and 125 UM patients with strong personal or family histories, or both, of cancer. Functional validation of variants was carried out by immunohistochemistry, reverse-transcriptase polymerase chain reaction, and genotyping.
main outcome measuresClinical characterization of UM patients with germline alterations in known cancer genes.
resultsWe identified actionable pathogenic variants in 8 known hereditary cancer predisposition genes (PALB2, MLH1, MSH6, CHEK2, SMARCE1, ATM, BRCA1, and CTNNA1) in 9 patients, including 3 of 27 patients (11%) with familial UM and 6 of 127 patients (4.7%) with a high risk for cancer. Two patients showed pathogenic variants in CHEK2 and PALB2, whereas variants in the other genes each occurred in 1 patient. Biallelic inactivation of PALB2 and MLH1 was observed in tumors from the respective patients. The frequencies of pathogenic variants in PALB2, MLH1, and SMARCE1 in UM patients were significantly higher than the observed frequencies in noncancer controls (PALB2: P = 0.02; odds ratio, 8.9; 95% confidence interval, 1.5-30.6; MLH1: P = 0.04; odds ratio, 25.4; 95% confidence interval, 1.2-143; SMARCE1: P = 0.001; odds ratio, 2047; 95% confidence interval, 52-4.5e15, respectively).
conclusionsThe study provided moderate evidence of gene and disease association of germline mutations in PALB2 and MLH1 with hereditary predisposition to UM. It also identified several other candidate susceptibility genes. The results suggest locus heterogeneity in predisposition to UM. Genetic testing for hereditary predisposition to cancer is warranted in UM patients with strong personal or family history of cancers, or both.
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