Varaico: Literature-Extracted Genetic Variants

Gene:GSDMB
Variant:p.V12L
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GSDMB

NM_001165958.2:p.V12L

Associated Papers

Prevalence of high-risk melanoma variants in early-onset and/or multiple primary melanoma in an Australian cohort.

Maas EJ et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025

Targeted germline sequencing of patients with three or more primary melanomas reveals high rate of pathogenic variants.

Li C et al.

Melanoma Research, 2020

In vitro behavior and UV response of melanocytes derived from carriers of CDKN2A mutations and MC1R variants.

Hernando B et al.

Pigment Cell & Melanoma Research, 2019

A KRAS wild type mutational status confers a survival advantage in pancreatic ductal adenocarcinoma.

Windon AL et al.

Journal of Gastrointestinal Oncology, 2018

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.

Puig S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

Genetic test reporting enhances understanding of risk information and acceptance of prevention recommendations compared to family history-based counseling alone.

Taber JM et al.

Journal of Behavioral Medicine, 2015

Germline CDKN2A mutations in Brazilian patients of hereditary cutaneous melanoma.

de Ávila AL et al.

Familial Cancer, 2014

Clinical and Histopathological Characteristics between Familial and Sporadic Melanoma in Barcelona, Spain.

Aguilera P et al.

Journal of Clinical & Experimental Dermatology Research, 2014

Analyses of clinicopathological, molecular, and prognostic associations of KRAS codon 61 and codon 146 mutations in colorectal cancer: cohort study and literature review.

Imamura Y et al.

Molecular Cancer, 2014

Specific mutations in KRAS codons 12 and 13, and patient prognosis in 1075 BRAF wild-type colorectal cancers.

Imamura Y et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2012

HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.

Niihori T et al.

Journal of Human Genetics, 2011

Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling.

McWilliams RR et al.

European Journal of Human Genetics : Ejhg, 2011

Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK.

Cust AE et al.

Journal of Medical Genetics, 2011

Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma.

Bisio A et al.

Human Molecular Genetics, 2010

Mutations in epidermal growth factor receptor and K-ras in Chinese patients with colorectal cancer.

Yunxia Z et al.

Bmc Medical Genetics, 2010

CDKN2A mutations in melanoma families from Uruguay.

Larre Borges A et al.

The British Journal of Dermatology, 2009

Population-based prevalence of CDKN2A mutations in Utah melanoma families.

Eliason MJ et al.

The Journal of Investigative Dermatology, 2006

Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma.

Laud K et al.

Journal of Medical Genetics, 2006

Prevalence of 9p21 deletions in UK melanoma families.

Mistry SH et al.

Genes, Chromosomes & Cancer, 2005

Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample.

Begg CB et al.

Journal of the National Cancer Institute, 2005

Two p16 (CDKN2A) germline mutations in 30 Israeli melanoma families.

Yakobson E et al.

European Journal of Human Genetics : Ejhg, 2000

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