Related references
Note: Only part of the references are listed.CDKN2A germline mutations are not associated with poor survival in an Italian cohort of melanoma patients
Bruna Dalmasso et al.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2019)
The impact of CDKN2A mutations on overall survival in pancreatic adenocarcinoma
Allison Doyle et al.
JOURNAL OF CLINICAL ONCOLOGY (2019)
Targeting MC1R depalmitoylation to prevent melanomagenesis in redheads
Shuyang Chen et al.
NATURE COMMUNICATIONS (2019)
BRCA1-associated protein (BAP1)-inactivated melanocytic tumors
Arianna J. Zhang et al.
JOURNAL OF CUTANEOUS PATHOLOGY (2019)
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines
Cindy Chau et al.
CANCERS (2019)
Current controversies in early-stage melanoma Questions on incidence, screening, and histologic regression
Laura J. Gardner et al.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2019)
Current controversies in early-stage melanoma Questions on management and surveillance
Marki E. Klapperich et al.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2019)
Immunohistochemical Expression of p16 in Melanocytic Lesions An Updated Review and Meta-analysis
Stephen S. Koh et al.
ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE (2018)
Histomorphologic spectrum of germline-related and sporadic BAP1-inactivated melanocytic tumors
Erin M. Garfield et al.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2018)
Germline mutation in the TP53 gene in uveal melanoma
Nikola Hajkova et al.
SCIENTIFIC REPORTS (2018)
Germline Variants in the POT1-Gene in High-Risk Melanoma Patients in Austria
Christoph Muller et al.
G3-GENES GENOMES GENETICS (2018)
Melanoma-prone families: new evidence of distinctive clinical and histological features of melanomas in CDKN2A mutation carriers
Laura Cristina Gironi et al.
ARCHIVES OF DERMATOLOGICAL RESEARCH (2018)
BRCA1/2 mutations are not a common cause of malignant melanoma in the Polish population
Tadeusz Debniak et al.
PLOS ONE (2018)
A novel germline mutation in CDK4 codon 24 associated to familial melanoma
I. Bottillo et al.
CLINICAL GENETICS (2018)
Prognostic impact and concordance of TERT promoter mutation and protein expression in matched primary and metastatic cutaneous melanoma
Emilia Hugdahl et al.
BRITISH JOURNAL OF CANCER (2018)
Overview of BAP1 cancer predisposition syndrome and the relationship to uveal melanoma
Babak Masoomian et al.
JOURNAL OF CURRENT OPHTHALMOLOGY (2018)
SF3B1 and BAP1 mutations in blue nevus-like melanoma
Klaus G. Griewank et al.
MODERN PATHOLOGY (2017)
Genotypic and Phenotypic Features of BAP1 Cancer Syndrome A Report of 8 New Families and Review of Cases in the Literature
Alexandra M. Haugh et al.
JAMA DERMATOLOGY (2017)
Genetic and Epigenetic Alterations of TERT Are Associated with Inferior Outcome in Adolescent and Young Adult Patients with Melanoma
Brittani Seynnaeve et al.
SCIENTIFIC REPORTS (2017)
Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history
Andrew K. Chan et al.
CLINICAL NEUROPATHOLOGY (2017)
Identification, genetic testing, and management of hereditary melanoma
Sancy A. Leachman et al.
CANCER AND METASTASIS REVIEWS (2017)
Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases
K. Rai et al.
CLINICAL GENETICS (2016)
Germline TERT promoter mutations are rare in familial melanoma
Mark Harland et al.
FAMILIAL CANCER (2016)
Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia
Helen E. Speedy et al.
BLOOD (2016)
CDKN2A mutations with put loss predisposing to multiple nerve sheath tumours, melanoma, dysplastic naevi and internal malignancies: a case series and review of the literature
M. R. Sargen et al.
BRITISH JOURNAL OF DERMATOLOGY (2016)
Hereditary melanoma: Update on syndromes and management Genetics of familial atypical multiple mole melanoma syndrome
Efthymia Soura et al.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2016)
Germline CDKN2A Mutation Status and Survival in Familial Melanoma Cases
Hildur Helgadottir et al.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2016)
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer
Daniel Chubb et al.
NATURE COMMUNICATIONS (2016)
Germline CDKN2A Mutation Status and Survival in Familial Melanoma Cases
Hildur Helgadottir et al.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2016)
Germline CDKN2A mutations in childhood melanoma: a case of melanoma-pancreatic cancer syndrome
Laura Cristina Gironi et al.
INTERNATIONAL JOURNAL OF DERMATOLOGY (2015)
Histomorphologic spectrum of BAP1 negative melanocytic neoplasms in a family with BAP1-associated cancer susceptibility syndrome
Zlatko Marusic et al.
JOURNAL OF CUTANEOUS PATHOLOGY (2015)
Histologic features of melanoma associated with CDKN2A genotype
Michael R. Sargen et al.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2015)
The Genetic Evolution of Melanoma from Precursor Lesions
A. Hunter Shain et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
MITF in melanoma: mechanisms behind its expression and activity
Mariusz L. Hartman et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2015)
MC1R variants increased the risk of sporadic cutaneous melanoma in darker-pigmented Caucasians: A pooled-analysis from the M-SKIP project
Elena Pasquali et al.
INTERNATIONAL JOURNAL OF CANCER (2015)
Germline Mutations in Shelterin Complex Genes Are Associated With Familial Glioma
Matthew N. Bainbridge et al.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2015)
Nonsense Mutations in the Shelterin Complex Genes ACD and TERF2IP in Familial Melanoma
Lauren G. Aoude et al.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2015)
Inherited Variation at MC1R and Histological Characteristics of Primary Melanoma
Nicholas J. Taylor et al.
PLOS ONE (2015)
Phenotypic Characterization of Nevus and Tumor Patterns in MITF E318K Mutation Carrier Melanoma Patients
Richard A. Sturm et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2014)
TERT Promoter Mutations in Skin Cancer: The Effects of Sun Exposure and X-Irradiation
Helena Populo et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2014)
High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families
Hildur Helgadottir et al.
JOURNAL OF MEDICAL GENETICS (2014)
POT1 loss-of-function variants predispose to familial melanoma
Carla Daniela Robles-Espinoza et al.
NATURE GENETICS (2014)
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma
Jianxin Shi et al.
NATURE GENETICS (2014)
MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors
Marianne Berwick et al.
PIGMENT CELL & MELANOMA RESEARCH (2014)
Telomerase reverse transcriptase promoter mutations in primary cutaneous melanoma
Barbara Heidenreich et al.
NATURE COMMUNICATIONS (2014)
Clumped perinuclear BAP1 expression is a frequent finding in sporadic epithelioid Spitz tumors
Bryan Gammon et al.
JOURNAL OF CUTANEOUS PATHOLOGY (2013)
Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants
Hanne Eknes Puntervoll et al.
JOURNAL OF MEDICAL GENETICS (2013)
Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history
P. Ghiorzo et al.
PIGMENT CELL & MELANOMA RESEARCH (2013)
Telomere Length and the Risk of Cutaneous Malignant Melanoma in Melanoma-Prone Families with and without CDKN2A Mutations
Laura S. Burke et al.
PLOS ONE (2013)
TERT Promoter Mutations in Familial and Sporadic Melanoma
Susanne Horn et al.
SCIENCE (2013)
Highly Recurrent TERT Promoter Mutations in Human Melanoma
Franklin W. Huang et al.
SCIENCE (2013)
BRCA1 and BRCA2: different roles in a common pathway of genome protection
Rohini Roy et al.
NATURE REVIEWS CANCER (2012)
Multiple Primary Cutaneous Melanomas in Li-Fraumeni Syndrome
Clara Curiel-Lewandrowski et al.
ARCHIVES OF DERMATOLOGY (2011)
Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling
Robert R. McWilliams et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
Melanocortin 1 receptor and risk of cutaneous melanoma: a meta-analysis and estimates of population burden
Patricia F. Williams et al.
INTERNATIONAL JOURNAL OF CANCER (2011)
Clinical and histologic characteristics of malignant melanoma in families with a germline mutation in CDKN2A
Jasper I. van der Rhee et al.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2011)
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma
Satoru Yokoyama et al.
NATURE (2011)
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma
Corine Bertolotto et al.
NATURE (2011)
Germline mutations in BAP1 predispose to melanocytic tumors
Thomas Wiesner et al.
NATURE GENETICS (2011)
Xeroderma pigmentosum
Alan R. Lehmann et al.
ORPHANET JOURNAL OF RARE DISEASES (2011)
Association of MC1R Variants and Host Phenotypes With Melanoma Risk in CDKN2A Mutation Carriers: A GenoMEL Study
F. Demenais et al.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2010)
The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma
F. Lesueur et al.
BRITISH JOURNAL OF CANCER (2008)
High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL
Alisa M. Goldstein et al.
CANCER RESEARCH (2006)
Comprehensive analysis of CDKN2A (p16(INK4A)/p14(ARF)) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma
K Laud et al.
JOURNAL OF MEDICAL GENETICS (2006)
Integrative genomic analyses identify MITF as a lineage survival oncogene amplified in malignant melanoma
LA Garraway et al.
NATURE (2005)
MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population
MT Landi et al.
JOURNAL OF THE NATIONAL CANCER INSTITUTE (2005)
Overexpression and hyperphosphorylation of retinoblastoma protein in the progression of malignant melanoma
A Roesch et al.
MODERN PATHOLOGY (2005)
Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma
N Soufir et al.
BRITISH JOURNAL OF CANCER (2004)
Germline CDKN2A mutations are rare in child and adolescent cutaneous melanoma
P Berg et al.
MELANOMA RESEARCH (2004)
Frequency of UV-inducible NRAS mutations in melanomas of patients with germline CDKN2A mutations
M Eskandarpour et al.
JOURNAL OF THE NATIONAL CANCER INSTITUTE (2003)
A natural history of melanomas and dysplastic nevi - An atlas of lesions in melanoma-prone families
MA Tucker et al.
CANCER (2002)
Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma-prone families - The familial atypical multiple mole melanoma-pancreatic carcinoma syndrome
HT Lynch et al.
CANCER (2002)
ARF differentially modulates apoptosis induced by E2F1 an Myc
JL Russell et al.
MOLECULAR AND CELLULAR BIOLOGY (2002)
CDKN2A germline splicing mutation affecting both P16ink4 and P14arf RNA processing in a melanoma/neurofibroma kindred
F Petronzelli et al.
GENES CHROMOSOMES & CANCER (2001)
Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and hair color
C Kennedy et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2001)
A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family
JA Randerson-Moor et al.
HUMAN MOLECULAR GENETICS (2001)
Genotype/phenotype and penetrance studies in melanoma families with germline CDKN2A mutations
JAN Bishop et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2000)
Share Paper
