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

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Multi-gene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/IJC.31984
P932PMC publication ID6590189
P698PubMed publication ID30414346

P50authorFrederik J HesQ64853978
Thomas P PotjerQ88701345
P2093author name stringChristi J van Asperen
Remco van Doorn
Sander Bollen
Nelleke A Gruis
Nienke van der Stoep
Anneliese J E M Grimbergen
Dutch Working Group for Clinical Oncogenetics
P2860cites workPOT1 loss-of-function variants predispose to familial melanomaQ24563091
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomasQ24617520
Update in genetic susceptibility in melanomaQ26778756
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnosticsQ26864287
Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino populationQ28138730
The INK4a/ARF network in tumour suppressionQ28190064
Mutations in BRIP1 confer high risk of ovarian cancerQ28249514
Comprehensive review of BAP1 tumor predisposition syndrome with report of two new casesQ28397229
Genetic profiling of a rare condition: co-occurrence of albinism and multiple primary melanoma in a Caucasian familyQ33728131
Melanoma--Part 1: epidemiology, risk factors, and preventionQ34014773
Melanoma geneticsQ34044830
Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL studyQ34212766
Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma familiesQ34251101
Genetics of familial melanoma: 20 years after CDKN2A.Q34449957
MC1R variants, melanoma and red hair color phenotype: a meta-analysisQ34589701
Epigenetic regulation identifies RASEF as a tumor-suppressor gene in uveal melanoma.Q34767027
Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanomaQ35102528
Molecular characterization of melanoma cases in Denmark suspected of genetic predispositionQ35213835
Prospective risk of cancer and the influence of tobacco use in carriers of the p16-Leiden germline variantQ35478014
A novel recurrent mutation in MITF predisposes to familial and sporadic melanomaQ35699278
POLE mutations in families predisposed to cutaneous melanomaQ35739446
Germline TERT promoter mutations are rare in familial melanomaQ35798435
Germline mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemiaQ36104721
Characterization of melanoma susceptibility genes in high-risk patients from Central Italy.Q36266148
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA typeQ36448930
Prediction of breast cancer risk based on profiling with common genetic variantsQ36583004
Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigreeQ36641919
Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variantsQ36712918
UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA SubstitutionQ37345605
Familial melanoma: a meta-analysis and estimates of attributable fraction.Q37670479
MITF E318K's effect on melanoma risk independent of, but modified by, other risk factorsQ37705148
A germline oncogenic MITF mutation and tumor susceptibility.Q38167456
A population-based analysis of germline BAP1 mutations in melanoma.Q39071774
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinomaQ39455824
Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative MutationsQ40229413
Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF.Q40510567
Characterization of patients at high risk of melanoma in AustriaQ40957097
International trends in the incidence of malignant melanoma 1953-2008--are recent generations at higher or lower risk?Q43604521
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndromeQ44636065
Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.Q45374479
Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma riskQ47703979
Rare germline variants in known melanoma susceptibility genes in familial melanomaQ47786373
Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature.Q47972869
Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients.Q50489618
The role of germline alterations in the DNA damage response genes BRIP1 and BRCA2 in melanoma susceptibility.Q53123135
Multiple Cutaneous Melanomas and Clinically Atypical Moles in a Patient With a Novel Germline BAP1 Mutation.Q55031139
Increased Risk of Cancer Other Than Melanoma in CDKN2A Founder Mutation (p16-Leiden)-Positive Melanoma FamiliesQ56436681
Germline RAD51B truncating mutation in a family with cutaneous melanomaQ59548972
CM-Score: a validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern EuropeQ62978093
P433issue10
P407language of work or nameEnglishQ1860
P304page(s)2453-2464
P577publication date2019-01-21
P1433published inInternational Journal of CancerQ332492
P1476titleMultigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families
P478volume144

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cites work (P2860)
Q92423194Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines
Q97527168Immunotherapy in the Treatment of Metastatic Melanoma: Current Knowledge and Future Directions
Q98647386Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: evidence for further locus heterogeneity

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