scholarly article | Q13442814 |
P50 | author | Frederik J Hes | Q64853978 |
Thomas P Potjer | Q88701345 | ||
P2093 | author name string | Christi 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 | |||
P2860 | cites work | POT1 loss-of-function variants predispose to familial melanoma | Q24563091 |
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas | Q24617520 | ||
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DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics | Q26864287 | ||
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Mutations in BRIP1 confer high risk of ovarian cancer | Q28249514 | ||
Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases | Q28397229 | ||
Genetic profiling of a rare condition: co-occurrence of albinism and multiple primary melanoma in a Caucasian family | Q33728131 | ||
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Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families | Q34251101 | ||
Genetics of familial melanoma: 20 years after CDKN2A. | Q34449957 | ||
MC1R variants, melanoma and red hair color phenotype: a meta-analysis | Q34589701 | ||
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 melanoma | Q35102528 | ||
Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition | Q35213835 | ||
Prospective risk of cancer and the influence of tobacco use in carriers of the p16-Leiden germline variant | Q35478014 | ||
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma | Q35699278 | ||
POLE mutations in families predisposed to cutaneous melanoma | Q35739446 | ||
Germline TERT promoter mutations are rare in familial melanoma | Q35798435 | ||
Germline mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia | Q36104721 | ||
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 type | Q36448930 | ||
Prediction of breast cancer risk based on profiling with common genetic variants | Q36583004 | ||
Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree | Q36641919 | ||
Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants | Q36712918 | ||
UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution | Q37345605 | ||
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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 carcinoma | Q39455824 | ||
Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations | Q40229413 | ||
Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF. | Q40510567 | ||
Characterization of patients at high risk of melanoma in Austria | Q40957097 | ||
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 syndrome | Q44636065 | ||
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 risk | Q47703979 | ||
Rare germline variants in known melanoma susceptibility genes in familial melanoma | Q47786373 | ||
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 Families | Q56436681 | ||
Germline RAD51B truncating mutation in a family with cutaneous melanoma | Q59548972 | ||
CM-Score: a validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe | Q62978093 | ||
P433 | issue | 10 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 2453-2464 | |
P577 | publication date | 2019-01-21 | |
P1433 | published in | International Journal of Cancer | Q332492 |
P1476 | title | Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families | |
P478 | volume | 144 |
Q92423194 | Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines |
Q97527168 | Immunotherapy in the Treatment of Metastatic Melanoma: Current Knowledge and Future Directions |
Q98647386 | Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: evidence for further locus heterogeneity |
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