The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma

Body mass index and height and risk of cutaneous melanoma: Mendelian randomization analyses

(2020) Jean Claude Dusingize et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC)

(2020) Johann Philipp Zöllner et al.   Orphanet Journal of Rare Diseases

A Truncating Germline Mutation of TINF2 in Individuals with Thyroid Cancer or Melanoma Results in Longer Telomeres

(2020) Huiling He et al.   THYROID

A systematic literature review of whole exome and genome sequencing population studies of genetic susceptibility to cancer

(2020) Melissa Rotunno et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Role of PI3K/AKT pathway in cancer: the framework of malignant behavior

(2020) Ningni Jiang et al.   MOLECULAR BIOLOGY REPORTS

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

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

(2020) Lorenza Pastorino et al.   Cancers

Remodeling the epigenome and (epi)cytoskeleton: a new paradigm for co-regulation by methylation

(2020) Cheryl Walker et al.   JOURNAL OF EXPERIMENTAL BIOLOGY

Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex

(2020) Thomas Rosengren et al.   Scientific Reports

Constitutional variants in POT1, TERF2IP, and ACD genes in patients with melanoma in the Polish population

(2020) Karolina Malińska et al.   EUROPEAN JOURNAL OF CANCER PREVENTION

Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: Evidence for further locus heterogeneity

(2020) Philip S. Smith et al.   GENES CHROMOSOMES & CANCER

WikiPathways: connecting communities

(2020) Marvin Martens et al.   NUCLEIC ACIDS RESEARCH

Clinical and Molecular Characterization of Microphthalmia-associated Transcription Factor (MITF)-related Renal Cell Carcinoma

(2020) Martin Lang et al.   UROLOGY

Cancer statistics, 2019

(2019) Rebecca L. Siegel et al.   CA-A CANCER JOURNAL FOR CLINICIANS

PTEN-opathies: from biological insights to evidence-based precision medicine

(2019) Lamis Yehia et al.   JOURNAL OF CLINICAL INVESTIGATION

Hypoxia, angiogenesis, and metabolism in the hereditary kidney cancers

(2019) John C. Chappell et al.   JOURNAL OF CLINICAL INVESTIGATION

MITF Expression Predicts Therapeutic Vulnerability to p300 Inhibition in Human Melanoma

(2019) Edward Kim et al.   CANCER RESEARCH

MITF—the first 25 years

(2019) Colin R. Goding et al.   GENES & DEVELOPMENT

g:Profiler: a web server for functional enrichment analysis and conversions of gene lists (2019 update)

(2019) Uku Raudvere et al.   NUCLEIC ACIDS RESEARCH

Identification of Rare Variants Predisposing to Thyroid Cancer

(2019) Yanqiang Wang et al.   THYROID

Familial Kidney Cancer: Implications of New Syndromes and Molecular Insights

(2019) Maria I. Carlo et al.   EUROPEAN UROLOGY

Exploring the hereditary background of renal cancer in Denmark

(2019) Maria Bejerholm Christensen et al.   PLoS One

Role and Therapeutic Targeting of the PI3K/Akt/mTOR Signaling Pathway in Skin Cancer: A Review of Current Status and Future Trends on Natural and Synthetic Agents Therapy

(2019) Chamcheu et al.   Cells

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

Cutaneous melanoma in Birt-Hogg-Dubé syndrome: part of the clinical spectrum?

(2018) E.C. Sattler et al.   BRITISH JOURNAL OF DERMATOLOGY

Genome-wide association study of familial lung cancer

(2018) Jinyoung Byun et al.   CARCINOGENESIS

Pathogenic Germline Variants in 10,389 Adult Cancers

(2018) Kuan-lin Huang et al.   CELL

Building Bonds: Cancer Stem Cells Depend on Their Progeny to Drive Tumor Progression

(2018) Sree Deepthi Muthukrishnan et al.   Cell Stem Cell

FLCN : The causative gene for Birt-Hogg-Dubé syndrome

(2018) Laura S. Schmidt et al.   GENE

Cutaneous melanoma: From pathogenesis to therapy (Review)

(2018) Giulia Leonardi et al.   INTERNATIONAL JOURNAL OF ONCOLOGY

Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management

(2018) Eamonn R. Maher   WORLD JOURNAL OF UROLOGY

The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma

(2018) Christopher J. Ricketts et al.   Cell Reports

Contributions by MC1R Variants to Melanoma Risk in Males and Females

(2018) Judith Wendt et al.   JAMA Dermatology

Multi-Omics Analysis Reveals a HIF Network and Hub Gene EPAS1 Associated with Lung Adenocarcinoma

(2018) Zhaoxi Wang et al.   EBioMedicine

Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries

(2018) Freddie Bray et al.   CA-A CANCER JOURNAL FOR CLINICIANS

OUP accepted manuscript

(2018)   JNCI-Journal of the National Cancer Institute

Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans

(2018) Jedidiah Carlson et al.   Nature Communications

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

Epidemiology and Risk Factors for Kidney Cancer

(2018) Ghislaine Scelo et al.   JOURNAL OF CLINICAL ONCOLOGY

New approach for understanding genome variations in KEGG

(2018) Minoru Kanehisa et al.   NUCLEIC ACIDS RESEARCH

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability

(2018) Michael D. Morgan et al.   Nature Communications

ProxECAT: Proxy External Controls Association Test. A new case-control gene region association test using allele frequencies from public controls

(2018) Audrey E. Hendricks et al.   PLoS Genetics

Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing

(2018) Thomas Husson et al.   Translational Psychiatry

Germline mutation contribution to chromosomal instability

(2017) Sock Hoai Chan et al.   ENDOCRINE-RELATED CANCER

Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma

(2017) Mitchell J. Machiela et al.   EUROPEAN UROLOGY

Deciphering the Role of Oncogenic MITFE318K in Senescence Delay and Melanoma Progression

(2017) Caroline Bonet 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

A prospective multicenter cohort study of cutaneous melanoma

(2017) Miguel Ángel Martínez-García et al.   MELANOMA RESEARCH

Nextflow enables reproducible computational workflows

(2017) Paolo Di Tommaso et al.   NATURE BIOTECHNOLOGY

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Obesity and melanoma: could fat be fueling malignancy?

(2017) Emily Clement et al.   Pigment Cell & Melanoma Research

Genome-wide association study identifies multiple risk loci for renal cell carcinoma

(2017) Ghislaine Scelo et al.   Nature Communications

Modulating BAP1 expression affects ROS homeostasis, cell motility and mitochondrial function

(2017) Lucie Hebert et al.   Oncotarget

MITF – A controls branching morphogenesis and nephron endowment

(2017) Aurélie Phelep et al.   PLoS Genetics

Deciphering the Role of Oncogenic MITFE318K in Senescence Delay and Melanoma Progression

(2017) Caroline Bonet 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

Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies

(2016) Kim M. Keppler-Noreuil et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Genomic disruption of the histone methyltransferase SETD2 in chronic lymphocytic leukaemia

(2016) H Parker et al.   LEUKEMIA

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Precision medicine from the renal cancer genome

(2016) Yasser Riazalhosseini et al.   Nature Reviews Nephrology

The Microphthalmia-Associated Transcription Factor p.E318K Mutation Does Not Play a Major Role in Sporadic Renal Cell Tumors from Caucasian Patients

(2016) Christine G. Stoehr et al.   PATHOBIOLOGY

Germline MC1R status influences somatic mutation burden in melanoma

(2016) Carla Daniela Robles-Espinoza et al.   Nature Communications

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

(2016) Miriam Potrony et al.   JAMA Dermatology

Sambamba: fast processing of NGS alignment formats

(2015) Artem Tarasov et al.   BIOINFORMATICS

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

The PI3K/AKT Pathway and Renal Cell Carcinoma

(2015) Huifang Guo et al.   Journal of Genetics and Genomics

Melanoma genetics

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

Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma

(2015) M. Jafri et al.   Cancer Discovery

Variants ofSCARB1andVDRInvolved in Complex Genetic Interactions May Be Implicated in the Genetic Susceptibility to Clear Cell Renal Cell Carcinoma

(2015) Ewelina Pośpiech et al.   Biomed Research International

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

Most common ‘sporadic’ cancers have a significant germline genetic component

(2014) Yi Lu et al.   HUMAN MOLECULAR GENETICS

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

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

(2014) Andy Rimmer et al.   NATURE GENETICS

MC1R, Eumelanin and Pheomelanin: Their Role in Determining the Susceptibility to Skin Cancer

(2014) Tahseen H. Nasti et al.   PHOTOCHEMISTRY AND PHOTOBIOLOGY

Prevalence of the E318K and V320I MITF germline mutations in Polish cancer patients and multiorgan cancer risk-a population-based study

(2014) Tomasz Gromowski et al.   Cancer Genetics

Characteristics of patients diagnosed with both melanoma and renal cell cancer

(2013) Michael R. Abern et al.   CANCER CAUSES & CONTROL

Assessing the Impact of Population Stratification on Association Studies of Rare Variation

(2013) Yunxuan Jiang et al.   HUMAN HEREDITY

MC1R Is a Potent Regulator of PTEN after UV Exposure in Melanocytes

(2013) Juxiang Cao et al.   MOLECULAR CELL

Lifetime Cancer Risks in Individuals with Germline PTEN Mutations

(2012) M.-H. Tan et al.   CLINICAL CANCER RESEARCH

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

The mTOR Signalling Pathway in Human Cancer

(2012) Helena Pópulo et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The role of clathrin in mitotic spindle organisation

(2012) S. J. Royle   JOURNAL OF CELL SCIENCE

Exome sequencing and the genetic basis of complex traits

(2012) Adam Kiezun et al.   NATURE GENETICS

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

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

The renaissance of corticotropin therapy in proteinuric nephropathies

(2011) Rujun Gong   Nature Reviews Nephrology

Multiple Desmoplastic Melanomas in Birt-Hogg-Dubé Syndrome and a Proposed Signaling Link Between Folliculin, the mTOR Pathway, and Melanoma Susceptibility

(2010) Raymond A. Cocciolone et al.   ARCHIVES OF DERMATOLOGY

Characteristics of the coexistence of melanoma and renal cell carcinoma

(2010) Eve Maubec et al.   CANCER

Melanocortin 1 receptor and risk of cutaneous melanoma: A meta-analysis and estimates of population burden

(2010) Patricia F. Williams et al.   INTERNATIONAL JOURNAL OF CANCER

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Beyond genome-wide association studies: genetic heterogeneity and individual predisposition to cancer

(2010) Antonella Galvan et al.   TRENDS IN GENETICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

SUMO under stress: Figure 1

(2008) Denis Tempé et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma

(2008) F Lesueur et al.   BRITISH JOURNAL OF CANCER