Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Hereditary predisposition to ovarian cancer, looking beyond BRCA1/BRCA2

(2015) Lindsey E. Minion et al.   GYNECOLOGIC ONCOLOGY

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

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

Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic

(2015) Marketa Janatova et al.   PLoS One

The molecular genetics of hereditary and sporadic ovarian cancer: implications for the future

(2014) M. Al Bakir et al.   BRITISH MEDICAL BULLETIN

Pathogenicity Evaluation of BRCA1 and BRCA2 Unclassified Variants Identified in Portuguese Breast/Ovarian Cancer Families

(2014) Catarina Santos et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

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

(2014) Martin Kircher et al.   NATURE GENETICS

The Validation and Clinical Implementation of BRCAplus: A Comprehensive High-Risk Breast Cancer Diagnostic Assay

(2014) Hansook Kim Chong et al.   PLoS One

Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer

(2014) Stephanie N. Dorman et al.   Scientific Reports

A systematic approach to assessing the clinical significance of genetic variants

(2013) H Duzkale et al.   CLINICAL GENETICS

Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 3

(2013) Emmanuel Gonzales et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Best Practices for Evaluating Mutation Prediction Methods

(2013) Peter K. Rogan et al.   HUMAN MUTATION

Inactivation of DNA Mismatch Repair by Variants of Uncertain Significance in the PMS2 Gene

(2013) Mark Drost et al.   HUMAN MUTATION

Expanding probe repertoire and improving reproducibility in human genomic hybridization

(2013) Stephanie N. Dorman et al.   NUCLEIC ACIDS RESEARCH

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Hereditary Breast Cancer: The Era of New Susceptibility Genes

(2013) Paraskevi Apostolou et al.   Biomed Research International

Interpretation, Stratification and Evidence for Sequence Variants Affecting mRNA Splicing in Complete Human Genome Sequences

(2013) Ben C. Shirley et al.   GENOMICS PROTEOMICS & BIOINFORMATICS

P53 and its molecular basis to chemoresistance in breast cancer

(2012) Stian Knappskog et al.   EXPERT OPINION ON THERAPEUTIC TARGETS

Guidelines for Reporting and Using Prediction Tools for Genetic Variation Analysis

(2012) Mauno Vihinen   HUMAN MUTATION

Comprehensive molecular portraits of human breast tumours

(2012) Daniel C. Koboldt et al.   NATURE

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

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

(2012)   NATURE

Cancer predisposing BARD1 mutations in breast–ovarian cancer families

(2011) Magdalena Ratajska et al.   BREAST CANCER RESEARCH AND TREATMENT

Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours

(2011) A Reiman et al.   BRITISH JOURNAL OF CANCER

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes

(2011) Jean Christophe Théry et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Disclosing pathogenic genetic variants to research participants: Quantifying an emerging ethical responsibility

(2011) C. A. Cassa et al.   GENOME RESEARCH

Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants

(2011) Eliseos J. Mucaki et al.   HUMAN MUTATION

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

(2011) Mark A DePristo et al.   NATURE GENETICS

High levels of nuclear heat-shock factor 1 (HSF1) are associated with poor prognosis in breast cancer

(2011) S. Santagata et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Lack of association between ATM C.1066-6T > G mutation and breast cancer risk: a meta-analysis of 8,831 cases and 4,957 controls

(2010) Hong Ding et al.   BREAST CANCER RESEARCH AND TREATMENT

A High Proportion of DNA Variants of BRCA1 and BRCA2 Is Associated with Aberrant Splicing in Breast/Ovarian Cancer Patients

(2010) D. J. Sanz et al.   CLINICAL CANCER RESEARCH

Discovering moderate-risk breast cancer susceptibility genes

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

Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers

(2010) K. A. Schrader et al.   JOURNAL OF MEDICAL GENETICS

PAX5  Enhances the Epithelial Behavior of Human Mammary Carcinoma Cells

(2010) L. J-P Vidal et al.   MOLECULAR CANCER RESEARCH

Opening the psychological black box in genetic counseling. The psychological impact of DNA testing is predicted by the counselees' perception, the medical impact by the pathogenic or uninformative BRCA1/2-result

(2010) Joël Vos et al.   PSYCHO-ONCOLOGY

Disease-Associated Mutations That Alter the RNA Structural Ensemble

(2010) Matthew Halvorsen et al.   PLoS Genetics

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

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

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

(2009) Leila Mohammadi et al.   BMC CANCER

CCAAT/enhancer-binding protein β: its role in breast cancer and associations with receptor tyrosine kinases

(2009) Cynthia A. Zahnow   EXPERT REVIEWS IN MOLECULAR MEDICINE

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

Public Expectations for Return of Results from Large-Cohort Genetic Research

(2008) Juli Murphy et al.   AMERICAN JOURNAL OF BIOETHICS

Curses—Winnerʼs and Otherwise—in Genetic Epidemiology

(2008) Peter Kraft   EPIDEMIOLOGY

The Clinical Phenotype of Lynch Syndrome Due to Germ-Line PMS2 Mutations

(2008) Leigha Senter et al.   GASTROENTEROLOGY

A large fraction of unclassified variants of the mismatch repair genesMLH1andMSH2is associated with splicing defects

(2008) Isabelle Tournier et al.   HUMAN MUTATION

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1

(2008) Marjolijn J L Ligtenberg et al.   NATURE GENETICS