ReviewJournal of cutaneous pathology2020
Germline mutations predisposing to melanoma.
Review in Journal of cutaneous pathology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
61 citing papers in PubMed, 3 syntheses or guidelines pooled it, 102 citations in OpenAlex.
- Mutational Characteristics of Primary Mucosal Melanoma: A Systematic Review.Molecular diagnosis & therapy · 2022Pooled it
- Association Between Telomere Length and Skin Cancer and Aging: A Mendelian Randomization Analysis.Frontiers in genetics · 2022Pooled it
- SEOM clinical guideline for the management of cutaneous melanoma (2020).Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2021Guideline
- TPC2 regulates proteomic remodeling, bioenergetic phenotypes, and mitochondrial stress adaptation in melanoma.Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical Society · 2026Article
- Targeting Peptidergic Systems for Melanoma Treatment.Cancers · 2026Review
- Regulation and Implementation of Apoptosis in Melanoma Tumor Cells withCurrent issues in molecular biology · 2026Review
- A novel polymorphism in the TERT gene is associated with lower survival in male patients with melanoma.Molecular medicine (Cambridge, Mass.) · 2026Article
- Decoding the Role of Lipid Metabolism and Membrane Dynamics in Melanoma.International journal of molecular sciences · 2026Review
- Impact of Dermatologic Screening and Methods on Breslow Thickness in Melanoma: A Retrospective Cohort Study.Cancers · 2026Article
- Circulating tumor cells as biomarkers in melanoma: techniques, challenges, and clinical applications.Frontiers in cell and developmental biology · 2026Review
- GermlineGenetics in medicine open · 2026Article
- Telomere length and skin cancer risk: A systematic review and meta-analysis of melanoma, basal cell carcinoma and squamous cell carcinoma.Oncology letters · 2025Article
- Genetic Landscape of Familial Melanoma.Genes · 2025Review
- Skin Signals: Exploring the Intersection of Cancer Predisposition Syndromes and Dermatological Manifestations.International journal of molecular sciences · 2025Review
- Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes.Diseases (Basel, Switzerland) · 2025Review
- Molecular and immune landscape of melanoma: a risk stratification model for precision oncology.Discover oncology · 2025Article
- Germline variants in CDKN2A wild-type melanoma prone families.Molecular oncology · 2025Article
- Characteristics of patients with melanoma with non‑melanoma skin cancer comorbidity: Practical implications based on a retrospective study.Oncology letters · 2025Article
- Association between triglyceride‑glucose index as a marker of insulin resistance and the risk of malignant melanoma: A retrospective study.Oncology letters · 2025Article
- LncRNA-ANRIL regulates CDKN2A to promote malignant proliferation of Kasumi-1 cells.Cell division · 2025Article
1 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Nearly 15% of melanomas occur in patients with a family history and a subset of these patients have a germline mutation in a melanoma predisposing gene. CDKN2A mutations are responsible for the majority of hereditary melanoma, but many other susceptibility genes have been discovered in recent years, including CDK4, TERT, ACD, TERF2IP, POT1, MITF, MC1R, and BAP1. Additionally, melanoma risk is increased in mixed cancer syndromes caused by mutations in PTEN, BRCA2, BRCA1, RB1, and TP53. While early onset, multiple tumors, and family cancer history remain the most valuable clinical clues for hereditary melanoma, characteristic epithelioid cytology of melanocytic tumors may suggest an underlying BAP1 mutation. Herein, we review the clinical and histopathologic characteristics of melanocytic tumors associated with these germline mutations and discuss the role of genetic counseling.
Indexed as
Identifiers
What OpenQuestion holds
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.