Realizing the promise of cancer predisposition genes

Stratification of Wilms tumor by genetic and epigenetic analysis

(2015) Richard H. Scott et al.   Oncotarget

Outcome of BRCA1- compared with BRCA2-associated ovarian cancer: a nationwide study in the Netherlands

(2013) P. M. L. H. Vencken et al.   ANNALS OF ONCOLOGY

Diagnosis, prognosis and treatment of patients with gastrointestinal stromal tumour (GIST) and germline mutation of KIT exon 13

(2013) Jean-Baptiste Bachet et al.   EUROPEAN JOURNAL OF CANCER

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

Risks and benefits of screening asymptomatic women for ovarian cancer: A systematic review and meta-analysis

(2013) Clare J. Reade et al.   GYNECOLOGIC ONCOLOGY

Multiple Endocrine Neoplasia Type 2 and Familial Medullary Thyroid Carcinoma: An Update

(2013) Samuel A. Wells et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

GermlineBRCAMutations Are Associated With Higher Risk of Nodal Involvement, Distant Metastasis, and Poor Survival Outcomes in Prostate Cancer

(2013) Elena Castro et al.   JOURNAL OF CLINICAL ONCOLOGY

CDH1germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study

(2013) Patrick R Benusiglio et al.   JOURNAL OF MEDICAL GENETICS

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

(2013) Miriam J Smith et al.   NATURE GENETICS

TERT Promoter Mutations in Familial and Sporadic Melanoma

(2013) S. Horn et al.   SCIENCE

Lentiviral Hematopoietic Stem Cell Gene Therapy in Patients with Wiskott-Aldrich Syndrome

(2013) A. Aiuti et al.   SCIENCE

Foretinib (XL880): c-MET Inhibitor with Activity in Papillary Renal Cell Cancer

(2013) Theodore F. Logan   Current Oncology Reports

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

(2013) Fergus J. Couch et al.   PLoS Genetics

Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer

(2012) Katie Snape et al.   BREAST CANCER RESEARCH AND TREATMENT

Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

(2012) N. Mavaddat et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Genome Sequencing of Pediatric Medulloblastoma Links Catastrophic DNA Rearrangements with TP53 Mutations

(2012) Tobias Rausch et al.   CELL

Mosaic RASopathies

(2012) Christian Hafner et al.   CELL CYCLE

SWI/SNF complex in disorder

(2012) Gijs W.E. Santen et al.   Epigenetics

Everolimus (RAD001): first systemic treatment for subependymal giant cell astrocytoma associated with tuberous sclerosis complex

(2012) Sergiusz Józwiak et al.   Future Oncology

Telomerase Reverse Transcriptase Locus Polymorphisms and Cancer Risk: A Field Synopsis and Meta-Analysis

(2012) Simone Mocellin et al.   JNCI-Journal of the National Cancer Institute

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

(2012) Elise Ruark et al.   NATURE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

(2012)   NATURE GENETICS

Inhibiting the Hedgehog Pathway in Patients with the Basal-Cell Nevus Syndrome

(2012) Jean Y. Tang et al.   NEW ENGLAND JOURNAL OF MEDICINE

SomaticHIF2AGain-of-Function Mutations in Paraganglioma with Polycythemia

(2012) Zhengping Zhuang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Cancer syndromes and therapy by stop-codon readthrough

(2012) Renata Bordeira-Carriço et al.   TRENDS IN MOLECULAR MEDICINE

Inherited hepatocellular carcinoma

(2011) Augusto Villanueva et al.   BEST PRACTICE & RESEARCH IN CLINICAL GASTROENTEROLOGY

Searching for synthetic lethality in cancer

(2011) Rachel Brough et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

GENETICS IN ENDOCRINOLOGY: The genetics of phaeochromocytoma: using clinical features to guide genetic testing

(2011) Mariam Jafri et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

A systematic review of the indications for genetic testing and prophylactic gastrectomy among patients with hereditary diffuse gastric cancer

(2011) Rajini Seevaratnam et al.   Gastric Cancer

Gene–gene interactions in breast cancer susceptibility

(2011) Clare Turnbull et al.   HUMAN MOLECULAR GENETICS

DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome

(2011) I. Slade et al.   JOURNAL OF MEDICAL GENETICS

Dyskeratosis congenita as a disorder of telomere maintenance

(2011) Nya D. Nelson et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

A continuum model for tumour suppression

(2011) Alice H. Berger et al.   NATURE

Genome-wide association study identifies three new melanoma susceptibility loci

(2011) Jennifer H Barrett et al.   NATURE GENETICS

Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1

(2011) David R Goudie et al.   NATURE GENETICS

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

(2011) Iñaki Comino-Méndez et al.   NATURE GENETICS

Germline mutations in BAP1 predispose to melanocytic tumors

(2011) Thomas Wiesner et al.   NATURE GENETICS

A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

(2011) Simon N Stacey et al.   NATURE GENETICS

Germline mutations in RAD51D confer susceptibility to ovarian cancer

(2011) Chey Loveday et al.   NATURE GENETICS

Evaluation of established breast cancer risk factors as modifiers of BRCA1 or BRCA2: a multi-center case-only analysis

(2010) Patricia G. Moorman et al.   BREAST CANCER RESEARCH AND TREATMENT

Medullary Thyroid Carcinoma

(2010) F. Pacini et al.   CLINICAL ONCOLOGY

The inherited genetics of ovarian and endometrial cancer

(2010) Simon A Gayther et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Genome-wide association studies in common cancers—what have we learnt?

(2010) Jajini Susan Varghese et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Vandetanib for the Treatment of Patients With Locally Advanced or Metastatic Hereditary Medullary Thyroid Cancer

(2010) Samuel A. Wells et al.   JOURNAL OF CLINICAL ONCOLOGY

The association between ATM D1853N polymorphism and breast cancer susceptibility: a meta-analysis

(2010) Lin-Bo Gao et al.   JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH

Succinate dehydrogenase – Assembly, regulation and role in human disease

(2010) Jared Rutter et al.   MITOCHONDRION

Biological, clinical and population relevance of 95 loci for blood lipids

(2010) Tanya M. Teslovich et al.   NATURE

International network of cancer genome projects

(2010) Thomas J. Hudson (Chairperson) et al.   NATURE

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

(2010) Charlotte M Niemeyer et al.   NATURE GENETICS

Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

(2010) Mia M. Gaudet et al.   PLoS Genetics

Sequence variants at the TERT-CLPTM1L locus associate with many cancer types

(2009) Thorunn Rafnar et al.   NATURE GENETICS

Inhibition of Poly(ADP-Ribose) Polymerase in Tumors fromBRCAMutation Carriers

(2009) Peter C. Fong et al.   NEW ENGLAND JOURNAL OF MEDICINE

Sequence and Structure Signatures of Cancer Mutation Hotspots in Protein Kinases

(2009) Anshuman Dixit et al.   PLoS One

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

(2009) L. A. Hindorff et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma

(2009) H.-X. Hao et al.   SCIENCE

Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

(2008) Antonis C. Antoniou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor

(2008) Richard H Scott et al.   NATURE GENETICS