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Prognostic and clinicopathologic associations of oncogenic BRAF in metastatic melanoma.
PURPOSE To assess the frequency and type of oncogenic BRAF mutations in metastatic melanoma and correlate BRAF status with clinicopathologic features and outcome. PATIENTS AND METHODS ConsecutiveExpand
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Genomic Classification of Cutaneous Melanoma
We describe the landscape of genomic alterations in cutaneous melanomas through DNA, RNA, and protein-based analysis of 333 primary and/or metastatic melanomas from 331 patients. We establish aExpand
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Geographical variation in the penetrance of CDKN2A mutations for melanoma.
BACKGROUND Germline mutations in the CDKN2A gene, which encodes two proteins (p16INK4A and p14ARF), are the most common cause of inherited susceptibility to melanoma. We examined the penetrance ofExpand
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Dominant negative ATM mutations in breast cancer families.
BACKGROUND The ATM gene encoding a putative protein kinase is mutated in ataxia-telangiectasia (A-T), an autosomal recessive disorder with a predisposition for cancer. Studies of A-T families suggestExpand
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Common sequence variants on 20q11.22 confer melanoma susceptibility
We conducted a genome-wide association pooling study for cutaneous melanoma and performed validation in samples totaling 2,019 cases and 2,105 controls. Using pooling, we identified a new melanomaExpand
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Genome-wide association study identifies three loci associated with melanoma risk
We report a genome-wide association study of melanoma conducted by the GenoMEL consortium based on 317K tagging SNPs for 1,650 selected cases and 4,336 controls, with replication in an additional twoExpand
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High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL.
GenoMEL, comprising major familial melanoma research groups from North America, Europe, Asia, and Australia has created the largest familial melanoma sample yet available to characterize mutations inExpand
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A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma
So far, two genes associated with familial melanoma have been identified, accounting for a minority of genetic risk in families. Mutations in CDKN2A account for approximately 40% of familial cases,Expand
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IGFBP7 Is Not Required for B-RAF-Induced Melanocyte Senescence
Induction of senescence permanently restricts cellular proliferation after oncogenic stimulation thereby acting as a potent barrier to tumor development. The relevant effector proteins may thereforeExpand
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Genome-wide association study identifies three new melanoma susceptibility loci
We report a genome-wide association study for melanoma that was conducted by the GenoMEL Consortium. Our discovery phase included 2,981 individuals with melanoma and 1,982 study-specific controlExpand
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