Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing

Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk

(2015) Douglas F. Easton et al.   NEW ENGLAND JOURNAL OF MEDICINE

Growing recognition of the role for rare missense substitutions in breast cancer susceptibility

(2014) Sean V Tavtigian et al.   Biomarkers in Medicine

Frequency of mutations in individuals with breast cancer referred forBRCA1andBRCA2testing using next-generation sequencing with a 25-gene panel

(2014) Nadine Tung et al.   CANCER

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients

(2014) Holly LaDuca et al.   GENETICS IN MEDICINE

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Breast-Cancer Risk in Families with Mutations in PALB2

(2014) Antonis C. Antoniou et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

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

BRCA1,TP53, andCHEK2germline mutations in uterine serous carcinoma

(2012) Kathryn P. Pennington et al.   CANCER

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing

(2011) T. Walsh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

PALB2 analysis in BRCA2-like families

(2010) M. A. Adank et al.   BREAST CANCER RESEARCH AND TREATMENT

Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research

(2010) R. C. Fitzgerald et al.   JOURNAL OF MEDICAL GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

2009 Version of the Chompret Criteria for Li Fraumeni Syndrome

(2009) Julie Tinat et al.   JOURNAL OF CLINICAL ONCOLOGY

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

(2009) Prateek Kumar et al.   Nature Protocols

CHEK2 1100delC and male breast cancer in the Netherlands

(2008) Marijke Wasielewski et al.   BREAST CANCER RESEARCH AND TREATMENT

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE