The context-specific role of germline pathogenicity in tumorigenesis

Aneuploidy and a deregulated DNA damage response suggest haploinsufficiency in breast tissues of BRCA2 mutation carriers

(2020) Mihriban Karaayvaz-Yildirim et al.   Science Advances

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

(2020) Konrad J. Karczewski et al.   NATURE

Therapeutic implications of germline genetic findings in cancer

(2019) Subotheni Thavaneswaran et al.   Nature Reviews Clinical Oncology

Tumour lineage shapes BRCA-mediated phenotypes

(2019) Philip Jonsson et al.   NATURE

Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma

(2019) Liying Zhang et al.   HUMAN MUTATION

Pathogenic Germline Variants in 10,389 Adult Cancers

(2018) Kuan-lin Huang et al.   CELL

Widespread Selection for Oncogenic Mutant Allele Imbalance in Cancer

(2018) Craig M. Bielski et al.   CANCER CELL

Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer

(2018) Alicia Latham et al.   JOURNAL OF CLINICAL ONCOLOGY

Maintenance Olaparib in Patients with Newly Diagnosed Advanced Ovarian Cancer

(2018) Kathleen Moore et al.   NEW ENGLAND JOURNAL OF MEDICINE

Cancer risk and survival inpath_MMRcarriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database

(2017) Pål Møller et al.   GUT

Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing

(2017) Diana Mandelker et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Mutational signature analysis identifies MUTYH deficiency in colorectal cancers and adrenocortical carcinomas

(2017) Camilla Pilati et al.   JOURNAL OF PATHOLOGY

Whole-genome landscape of pancreatic neuroendocrine tumours

(2017) Aldo Scarpa et al.   NATURE

A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer

(2017) Paz Polak et al.   NATURE GENETICS

Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients

(2017) Ahmet Zehir et al.   NATURE MEDICINE

Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade

(2017) Dung T. Le et al.   SCIENCE

Accelerating Discovery of Functional Mutant Alleles in Cancer

(2017) Matthew T. Chang et al.   Cancer Discovery

Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer

(2017) Fergus J. Couch et al.   JAMA Oncology

A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer

(2017) Alessandra Viel et al.   EBioMedicine

A detailed analysis of von Hippel Lindau (VHL) mutations in sporadic clear cell renal carcinoma (ccRCC), VHL syndrome, and Chuvash polycythaemia.

(2017) L. Gossage et al.   JOURNAL OF CLINICAL ONCOLOGY

Counselling framework for moderate-penetrance cancer-susceptibility mutations

(2016) Nadine Tung et al.   Nature Reviews Clinical Oncology

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

Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT)

(2015) Donavan T. Cheng et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

PD-1 Blockade in Tumors with Mismatch-Repair Deficiency

(2015) Dung T. Le et al.   NEW ENGLAND JOURNAL OF MEDICINE

Germline Mutations in Predisposition Genes in Pediatric Cancer

(2015) Jinghui Zhang et al.   NEW ENGLAND JOURNAL OF MEDICINE

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Cancer Genomics and Inherited Risk

(2014) Zsofia K. Stadler et al.   JOURNAL OF CLINICAL ONCOLOGY

Realizing the promise of cancer predisposition genes

(2014) Nazneen Rahman   NATURE

APC Polymorphisms and the Risk of Colorectal Neoplasia: A HuGE Review and Meta-Analysis

(2013) Jing Liang et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

Cancer Genome Landscapes

(2013) B. Vogelstein et al.   SCIENCE

Association between monoallelic MUTYH mutation and colorectal cancer risk: a meta-regression analysis

(2010) Aung Ko Win et al.   Familial Cancer

Hereditary and Familial Colon Cancer

(2010) Kory W. Jasperson et al.   GASTROENTEROLOGY

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

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