Germline variants in pancreatic cancer patients with a personal or family history of cancer fulfilling the revised Bethesda guidelines

Hypermutation In Pancreatic Cancer

(2017) Jeremy L. Humphris et al.   GASTROENTEROLOGY

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

Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer

(2017) Matthew B. Yurgelun et al.   JOURNAL OF CLINICAL ONCOLOGY

The Prevalence of Founder Mutations among Individuals from Families with Familial Pancreatic Cancer Syndrome

(2017) Marcin R. Lener et al.   Cancer Research and Treatment

ATM Mutations in Cancer: Therapeutic Implications

(2016) M. Choi et al.   MOLECULAR CANCER THERAPEUTICS

Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients With Pancreatic Cancer

(2015) Robert C. Grant et al.   GASTROENTEROLOGY

PD-1 Blockade in Tumors with Mismatch-Repair Deficiency

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

Guidelines on Genetic Evaluation and Management of Lynch Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer

(2014) Francis M Giardiello et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Having Pancreatic Cancer with Tumoral Loss of ATM and Normal TP53 Protein Expression Is Associated with a Poorer Prognosis

(2014) H. Kim et al.   CLINICAL CANCER RESEARCH

Cancer incidence and mortality worldwide: Sources, methods and major patterns in GLOBOCAN 2012

(2014) Jacques Ferlay et al.   INTERNATIONAL JOURNAL OF CANCER

Missense mutations (p.H371Y, p.D438Y) in gene CHEK2 are associated with breast cancer risk in women of Balochistan origin

(2014) Abdul Hameed Baloch et al.   MOLECULAR BIOLOGY REPORTS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Predicting the functional consequences of cancer-associated amino acid substitutions

(2013) Hashem A. Shihab et al.   BIOINFORMATICS

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts

(2013) Hans F A Vasen et al.   GUT

DNA repair genes are selectively mutated in diffuse large B cell lymphomas

(2013) Noel FCC de Miranda et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

(2013) Bryony A Thompson et al.   NATURE GENETICS

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

The founder Ashkenazi Jewish mutations in the MSH2 and MSH6 genes in Israeli patients with gastric and pancreatic cancer

(2012) Yael Laitman et al.   Familial Cancer

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

(2012) Hashem A. Shihab et al.   HUMAN MUTATION

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

(2012)   NATURE

Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer

(2011) Lucía Pérez-Carbonell et al.   GUT

A recurrent CHEK2 p.H371Y mutation is associated with breast cancer risk in Chinese women

(2011) Yin Liu et al.   HUMAN MUTATION

Classification of missense substitutions in the BRCA genes: A database dedicated to Ex-UVs

(2011) Maxime P. Vallée et al.   HUMAN MUTATION

Risk of Breast Cancer in Women With a CHEK2 Mutation With and Without a Family History of Breast Cancer

(2011) Cezary Cybulski et al.   JOURNAL OF CLINICAL ONCOLOGY

Familial pancreatic cancer and hereditary syndromes: screening strategy for high-risk individuals

(2011) Hiroyuki Matsubayashi   JOURNAL OF GASTROENTEROLOGY

ATM Mutations in Patients with Hereditary Pancreatic Cancer

(2011) Nicholas J. Roberts et al.   Cancer Discovery

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome

(2009) S. Gargiulo et al.   Familial Cancer

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Breast cancer low-penetrance allele 1100delC in the CHEK2 gene: Not present in the Chinese familial breast cancer population

(2008) Wang Chen et al.   ADVANCES IN THERAPY

Identification in Daily Practice of Patients With Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer): Revised Bethesda Guidelines-Based ApproachVersusMolecular Screening

(2008) Catherine Julié et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Feasibility of Screening for Lynch Syndrome Among Patients With Colorectal Cancer

(2008) Heather Hampel et al.   JOURNAL OF CLINICAL ONCOLOGY