A Review of Whole-Exome Sequencing Efforts Toward Hereditary Breast Cancer Susceptibility Gene Discovery

Loss of heterozygosity: what is it good for?

(2015) Georgina L. Ryland et al.   BMC Medical Genomics

Identification of novel hereditary cancer genes by whole exome sequencing

(2015) Anna P. Sokolenko et al.   CANCER LETTERS

FANCMc.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

(2015) Paolo Peterlongo et al.   HUMAN MOLECULAR GENETICS

Breast Cancer Prevention in the Era of Precision Medicine

(2015) S. A. Narod   JNCI-Journal of the National Cancer Institute

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

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

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

(2015) Huong D. Meeks et al.   JNCI-Journal of the National Cancer Institute

Germline RECQL mutations are associated with breast cancer susceptibility

(2015) Cezary Cybulski et al.   NATURE GENETICS

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

(2015) Kyriaki Michailidou et al.   NATURE GENETICS

Germline HABP2 Mutation Causing Familial Nonmedullary Thyroid Cancer

(2015) Sudheer Kumar Gara et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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

Mutations in RECQL Gene Are Associated with Predisposition to Breast Cancer

(2015) Jie Sun et al.   PLoS Genetics

Breast Cancer Prevention in the Era of Precision Medicine

(2015) S. A. Narod   JNCI-Journal of the National Cancer Institute

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

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

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

(2015) Huong D. Meeks et al.   JNCI-Journal of the National Cancer Institute

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

(2015) Costin Leu et al.   EBioMedicine

Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases

(2014) Alexander Gusev et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic predispositions for BRCAx familial breast cancer

(2014) Hongxiu Wen et al.   BMC CANCER

A polygenic burden of rare disruptive mutations in schizophrenia

(2014) Shaun M. Purcell et al.   NATURE

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Non-coding mutations in the driver seat

(2014) Linda Koch   NATURE REVIEWS GENETICS

Statistical power and significance testing in large-scale genetic studies

(2014) Pak C. Sham et al.   NATURE REVIEWS GENETICS

Searching for missing heritability: Designing rare variant association studies

(2014) O. Zuk et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer

(2014) Johanna I. Kiiski et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets

(2013) Bernard J Pope et al.   BMC BIOINFORMATICS

Genome-wide association studies identify four ER negative–specific breast cancer risk loci

(2013) Montserrat Garcia-Closas et al.   NATURE GENETICS

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

(2013) Stig E Bojesen et al.   NATURE GENETICS

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

(2013) Kyriaki Michailidou et al.   NATURE 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

TERT Promoter Mutations in Familial and Sporadic Melanoma

(2013) S. Horn et al.   SCIENCE

Hereditary Breast Cancer: The Era of New Susceptibility Genes

(2013) Paraskevi Apostolou et al.   Biomed Research International

Rare Mutations in XRCC2 Increase the Risk of Breast Cancer

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

Novel BRCA1 and BRCA2 genomic rearrangements in Southern Chinese breast/ovarian cancer patients

(2012) Ava Kwong et al.   BREAST CANCER RESEARCH AND TREATMENT

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

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

Familial Breast Cancer

(2012) F Lalloo et al.   CLINICAL GENETICS

A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11

(2012) Afshan Siddiq et al.   HUMAN MOLECULAR GENETICS

Prevalence and Type of BRCA Mutations in Hispanics Undergoing Genetic Cancer Risk Assessment in the Southwestern United States: A Report From the Clinical Cancer Genetics Community Research Network

(2012) Jeffrey N. Weitzel et al.   JOURNAL OF CLINICAL ONCOLOGY

Rare variants in XRCC2 as breast cancer susceptibility alleles: Table 1

(2012) Florentine S Hilbers et al.   JOURNAL OF MEDICAL GENETICS

A low-frequency variant at 8q24.21 is strongly associated with risk of oligodendroglial tumors and astrocytomas with IDH1 or IDH2 mutation

(2012) Robert B Jenkins et al.   NATURE GENETICS

Genome-wide association analysis identifies three new breast cancer susceptibility loci

(2012) Maya Ghoussaini et al.   NATURE GENETICS

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

(2012) Claire Palles et al.   NATURE GENETICS

Exome sequencing and the genetic basis of complex traits

(2012) Adam Kiezun et al.   NATURE GENETICS

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

(2012) Miao-Xin Li et al.   NUCLEIC ACIDS RESEARCH

Statistical Guidance for Experimental Design and Data Analysis of Mutation Detection in Rare Monogenic Mendelian Diseases by Exome Sequencing

(2012) Degui Zhi et al.   PLoS One

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

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

Exome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy

(2011) Tara Klassen et al.   CELL

Revisiting Mendelian disorders through exome sequencing

(2011) Chee-Seng Ku et al.   HUMAN GENETICS

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

Novel Breast Cancer Susceptibility Locus at 9q31.2: Results of a Genome-Wide Association Study

(2011) Olivia Fletcher et al.   JNCI-Journal of the National Cancer Institute

A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor–negative breast cancer

(2011) Christopher A Haiman et al.   NATURE GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Design Considerations for Massively Parallel Sequencing Studies of Complex Human Disease

(2011) Bing-Jian Feng et al.   PLoS One

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

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population

(2010) Antonis C Antoniou et al.   NATURE GENETICS

Genome-wide association study identifies five new breast cancer susceptibility loci

(2010) Clare Turnbull et al.   NATURE GENETICS

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

(2010) Tom Walsh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

BRCA1andBRCA2mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer

(2009) Michael J. Hall et al.   CANCER

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1)

(2009) Gilles Thomas et al.   NATURE GENETICS

Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1

(2009) Wei Zheng et al.   NATURE GENETICS

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2

(2009) Shahana Ahmed et al.   NATURE GENETICS

Power of deep, all-exon resequencing for discovery of human trait genes

(2009) G. V. Kryukov et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genome-wide significance for dense SNP and resequencing data

(2008) Clive J. Hoggart et al.   GENETIC EPIDEMIOLOGY

Mapping short DNA sequencing reads and calling variants using mapping quality scores

(2008) H. Li et al.   GENOME RESEARCH

Next-generation DNA sequencing

(2008) Jay Shendure et al.   NATURE BIOTECHNOLOGY

Common variants on chromosome 5p12 confer susceptibility to estrogen receptor–positive breast cancer

(2008) Simon N Stacey et al.   NATURE GENETICS