Multigene testing of moderate-risk genes: be mindful of the missense

Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 1.2014

(2017) Mary B. Daly et al.   Journal of the National Comprehensive Cancer Network

Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

(2015) Nasim Mavaddat et al.   JNCI-Journal of the National Cancer Institute

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

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

Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

(2015) Nasim Mavaddat et al.   JNCI-Journal of the National Cancer Institute

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

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

Testing calibration of risk models at extremes of disease risk

(2014) M. Song et al.   BIOSTATISTICS

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

Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer

(2014) Kara N. Maxwell et al.   GENETICS IN MEDICINE

Cancer Genomics and Inherited Risk

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

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

The 'Other' Breast Cancer Genes

(2014) S. Kean   SCIENCE

Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome-Spectrum Cancers

(2014) D. J. Park et al.   Cancer Discovery

Fine-Scale Mapping of the FGFR2 Breast Cancer Risk Locus: Putative Functional Variants Differentially Bind FOXA1 and E2F1

(2013) Kerstin B. Meyer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic ancestry modifies the association between genetic risk variants and breast cancer risk among Hispanic and non-Hispanic white women

(2013) Laura Fejerman et al.   CARCINOGENESIS

Common genetic determinants of breast-cancer risk in East Asian women: a collaborative study of 23 637 breast cancer cases and 25 579 controls

(2013) Wei Zheng et al.   HUMAN MOLECULAR GENETICS

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

(2013) Kyriaki Michailidou et al.   NATURE GENETICS

Rare Mutations in XRCC2 Increase the Risk of Breast Cancer

(2012) D.J. Park et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evaluation of 19 susceptibility loci of breast cancer in women of African ancestry

(2012) Dezheng Huo et al.   CARCINOGENESIS

Response to DNA damage of CHEK2 missense mutations in familial breast cancer

(2012) Wendy Roeb et al.   HUMAN MOLECULAR GENETICS

Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions

(2012) Bryony A. Thompson et al.   HUMAN MUTATION

A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry

(2012) Bryony A. Thompson et al.   HUMAN MUTATION

RAD51 and Breast Cancer Susceptibility: No Evidence for Rare Variant Association in the Breast Cancer Family Registry Study

(2012) Florence Le Calvez-Kelm et al.   PLoS One

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

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

ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

(2011) Amanda B. Spurdle et al.   HUMAN MUTATION

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

(2011) Noralane M. Lindor et al.   HUMAN MUTATION

Using the T-Coffee package to build multiple sequence alignments of protein, RNA, DNA sequences and 3D structures

(2011) Jean-Francois Taly et al.   Nature Protocols

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Breast Cancer Screening With Imaging: Recommendations From the Society of Breast Imaging and the ACR on the Use of Mammography, Breast MRI, Breast Ultrasound, and Other Technologies for the Detection of Clinically Occult Breast Cancer

(2010) Carol H. Lee et al.   Journal of the American College of Radiology

Rare, Evolutionarily Unlikely Missense Substitutions in ATM Confer Increased Risk of Breast Cancer

(2009) Sean V. Tavtigian et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications

(2008) Sean V. Tavtigian et al.   HUMAN MUTATION

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

(2008) Sharon E. Plon et al.   HUMAN MUTATION