Detection of novel germline mutations for breast cancer in non-BRCA1/2families

Systematic Review: Using Magnetic Resonance Imaging to Screen Women at High Risk for Breast Cancer

(2013) Ellen Warner et al.   ANNALS OF INTERNAL MEDICINE

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

Mutational heterogeneity in cancer and the search for new cancer-associated genes

(2013) Michael S. Lawrence et al.   NATURE

Turning of COGS moves forward findings for hormonally mediated cancers

(2013) Lori C Sakoda et al.   NATURE GENETICS

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

(2013) Kyriaki Michailidou et al.   NATURE GENETICS

Disease-targeted sequencing: a cornerstone in the clinic

(2013) Heidi L. Rehm   NATURE REVIEWS GENETICS

Exome Sequencing of Germline DNA from Non-BRCA1/2 Familial Breast Cancer Cases Selected on the Basis of aCGH Tumor Profiling

(2013) Florentine S. Hilbers et al.   PLoS One

Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles

(2013) Francisco Javier Gracia-Aznarez et al.   PLoS One

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

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

Cancer Epigenetics: From Mechanism to Therapy

(2012) Mark A. Dawson et al.   CELL

Familial Breast Cancer

(2012) F Lalloo et al.   CLINICAL GENETICS

Exome sequencing and complex disease: practical aspects of rare variant association studies

(2012) R. Do et al.   HUMAN MOLECULAR GENETICS

Comprehensive molecular portraits of human breast tumours

(2012) Daniel C. Koboldt et al.   NATURE

Differential confounding of rare and common variants in spatially structured populations

(2012) Iain Mathieson et al.   NATURE GENETICS

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles

(2012) Ella R. Thompson et al.   PLoS Genetics

Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift

(2012) Pablo Cingolani et al.   Frontiers in Genetics

FAN1 variants identified in multiple-case early-onset breast cancer families via exome sequencing: no evidence for association with risk for breast cancer

(2011) Daniel J. Park et al.   BREAST CANCER RESEARCH AND TREATMENT

Genetic polymorphisms and breast cancer risk: evidence from meta-analyses, pooled analyses, and genome-wide association studies

(2011) Sihua Peng et al.   BREAST CANCER RESEARCH AND TREATMENT

Lack of replication for the association between HER2 I655V polymorphism and breast cancer risk: A systematic review and meta-analysis

(2011) Issa J. Dahabreh et al.   Cancer Epidemiology

Breast Cancer Risk for Noncarriers of Family-SpecificBRCA1andBRCA2Mutations: Findings From the Breast Cancer Family Registry

(2011) Allison W. Kurian et al.   JOURNAL OF CLINICAL ONCOLOGY

Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence

(2011) Ben Zhang et al.   LANCET ONCOLOGY

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

(2011) Manuel A Rivas et al.   NATURE GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

SNPeffect 4.0: on-line prediction of molecular and structural effects of protein-coding variants

(2011) G. De Baets et al.   NUCLEIC ACIDS RESEARCH

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

Discovering moderate-risk breast cancer susceptibility genes

(2010) Antoinette Hollestelle et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Population structure and genome-wide patterns of variation in Ireland and Britain

(2010) Colm T O'Dushlaine et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

The landscape of somatic copy-number alteration across human cancers

(2010) Rameen Beroukhim et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

(2010) S. A. Forbes et al.   NUCLEIC ACIDS RESEARCH

ZNF217, a candidate breast cancer oncogene amplified at 20q13, regulates expression of the ErbB3 receptor tyrosine kinase in breast cancer cells

(2010) S R Krig et al.   ONCOGENE

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

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

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

(2009) Prateek Kumar et al.   Nature Protocols

NAD(P)H:quinone oxidoreductase 1 NQO1*2 genotype (P187S) is a strong prognostic and predictive factor in breast cancer

(2008) Rainer Fagerholm et al.   NATURE GENETICS