Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1

Evolution of approaches to identify melanoma missing heritability

(2020) Bruna Dalmasso et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Clinical, pathological and dermoscopic phenotype of MITF p.E318K carrier cutaneous melanoma patients

(2020) Giulia Ciccarese et al.   Journal of Translational Medicine

Pan-cancer analysis of whole genomes

(2020)   NATURE

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

(2020) Maria Teresa Landi et al.   NATURE GENETICS

Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma

(2019) Vaishnavi Nathan et al.   Pigment Cell & Melanoma Research

Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study

(2019) Milena Casula et al.   BMC CANCER

Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines

(2019) Cindy Chau et al.   Cancers

Functional annotation of melanoma risk loci identifies novel susceptibility genes

(2019) Shenying Fang et al.   CARCINOGENESIS

NEK11 as a candidate high-penetrance melanoma susceptibility gene

(2019) Eirini Christodoulou et al.   JOURNAL OF MEDICAL GENETICS

Contribution of Common Genetic Variants to Familial Aggregation of Disease and Implications for Sequencing Studies

(2019) Andrew Schlafly et al.   PLoS Genetics

Pathogenic Germline Variants in 10,389 Adult Cancers

(2018) Kuan-lin Huang et al.   CELL

Ataxia–telangiectasia gene (ATM) mutation heterozygosity in breast cancer: a narrative review

(2018) K.J. Jerzak et al.   Current Oncology

Risks of Melanoma and Other Cancers in Melanoma-Prone Families over 4 Decades

(2018) Margaret A. Tucker et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

A Nonsynonymous Variant in the GOLM1 Gene in Cutaneous Malignant Melanoma

(2018) Craig C Teerlink et al.   JNCI-Journal of the National Cancer Institute

A Nonsynonymous Variant in the GOLM1 Gene in Cutaneous Malignant Melanoma

(2018) Craig C Teerlink et al.   JNCI-Journal of the National Cancer Institute

Recommandations françaises du Groupe génétique et cancer pour l’analyse en panel de gènes dans les prédispositions héréditaires au cancer du sein ou de l’ovaire

(2018) Jessica Moretta et al.   BULLETIN DU CANCER

Combining common genetic variants and non-genetic risk factors to predict risk of cutaneous melanoma

(2018) Fangyi Gu et al.   HUMAN MOLECULAR GENETICS

OUP accepted manuscript

(2018)   JNCI-Journal of the National Cancer Institute

Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families

(2018) Thomas P. Potjer et al.   INTERNATIONAL JOURNAL OF CANCER

The wide spectrum of POT1 gene variants correlates with multiple cancer types

(2017) Oriol Calvete et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A new POT1 germline mutation—expanding the spectrum of POT1-associated cancers

(2017) Tremika Le-Shan Wilson et al.   Familial Cancer

Rare germline variants in known melanoma susceptibility genes in familial melanoma

(2017) Alisa M Goldstein et al.   HUMAN MOLECULAR GENETICS

Rare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome Sequencing

(2017) Mykyta Artomov et al.   JNCI-Journal of the National Cancer Institute

Rare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome Sequencing

(2017) Mykyta Artomov et al.   JNCI-Journal of the National Cancer Institute

Functional analysis of a CDKN2A 5’UTR germline variant associated with pancreatic cancer development

(2017) William Bruno et al.   PLoS One

Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations

(2016) Xiaohong R. Yang et al.   HUMAN GENETICS

Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup

(2016) William Bruno et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017

(2016) Mary B. Daly et al.   Journal of the National Comprehensive Cancer Network

Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer

(2016) Daniel Chubb et al.   Nature Communications

Prevalence ofMITFp.E318K in Patients With Melanoma Independent of the Presence ofCDKN2ACausative Mutations

(2016) Miriam Potrony et al.   JAMA Dermatology

Recommandations pour le diagnostic de prédisposition génétique au mélanome cutané et pour la prise en charge des personnes à risque

(2015) M.-F. Avril et al.   ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE

Comprehensive review ofBAP1tumor predisposition syndrome with report of two new cases

(2015) K. Rai et al.   CLINICAL GENETICS

Germline TERT promoter mutations are rare in familial melanoma

(2015) Mark Harland et al.   Familial Cancer

POLE mutations in families predisposed to cutaneous melanoma

(2015) Lauren G. Aoude et al.   Familial Cancer

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Melanoma genetics

(2015) Jazlyn Read et al.   JOURNAL OF MEDICAL GENETICS

Genetics of familial melanoma: 20 years afterCDKN2A

(2015) Lauren G. Aoude et al.   Pigment Cell & Melanoma Research

TheCDKN2A/p16INK4a5′UTR sequence and translational regulation: impact of novel variants predisposing to melanoma

(2015) Virginia Andreotti et al.   Pigment Cell & Melanoma Research

BRCA1, BRCA2, PALB2 and CDKN2A mutations in familial pancreatic cancer: a PACGENE study

(2014) David B. Zhen et al.   GENETICS IN MEDICINE

Germline Mutations in Shelterin Complex Genes Are Associated With Familial Glioma

(2014) Matthew N. Bainbridge et al.   JNCI-Journal of the National Cancer Institute

Nonsense Mutations in the Shelterin Complex Genes ACD and TERF2IP in Familial Melanoma

(2014) Lauren G. Aoude et al.   JNCI-Journal of the National Cancer Institute

POT1 loss-of-function variants predispose to familial melanoma

(2014) Carla Daniela Robles-Espinoza et al.   NATURE GENETICS

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

(2014) Jianxin Shi et al.   NATURE GENETICS

Joint Effect of Multiple Common SNPs Predicts Melanoma Susceptibility

(2014) Shenying Fang et al.   PLoS One

Assessment of PALB2 as a Candidate Melanoma Susceptibility Gene

(2014) Lauren G. Aoude et al.   PLoS One

Melanoma prone families withCDK4germline mutation: phenotypic profile and associations withMC1Rvariants

(2013) Hanne Eknes Puntervoll et al.   JOURNAL OF MEDICAL GENETICS

POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia

(2013) Andrew J Ramsay et al.   NATURE GENETICS

TERT Promoter Mutations in Familial and Sporadic Melanoma

(2013) S. Horn et al.   SCIENCE

Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree

(2012) Jason E. Hawkes et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

wANNOVAR: annotating genetic variants for personal genomes via the web

(2012) Xiao Chang et al.   JOURNAL OF MEDICAL GENETICS

CDKN2Ais the main susceptibility gene in Italian pancreatic cancer families

(2012) Paola Ghiorzo et al.   JOURNAL OF MEDICAL GENETICS

Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history

(2012) P. Ghiorzo et al.   Pigment Cell & Melanoma Research

Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy

(2011) P. Ghiorzo et al.   Familial Cancer

A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

(2011) Satoru Yokoyama et al.   NATURE

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

(2011) Corine Bertolotto et al.   NATURE

Genome-wide association study identifies three new melanoma susceptibility loci

(2011) Jennifer H Barrett et al.   NATURE GENETICS

Germline mutations in BAP1 predispose to melanocytic tumors

(2011) Thomas Wiesner et al.   NATURE GENETICS

ATM Mutations in Patients with Hereditary Pancreatic Cancer

(2011) Nicholas J. Roberts et al.   Cancer Discovery

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

(2010) Alessandra Bisio et al.   HUMAN MOLECULAR GENETICS

Clinical genetic testing for familial melanoma in Italy: A cooperative study

(2009) William Bruno et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Exomic Sequencing Identifies PALB2 as a Pancreatic Cancer Susceptibility Gene

(2009) S. Jones et al.   SCIENCE

Risk of Cancer byATMMissense Mutations in the General Population

(2008) Sarah Louise Dombernowsky et al.   JOURNAL OF CLINICAL ONCOLOGY