BRCA1andBRCA2genetic testing—pitfalls and recommendations for managing variants of uncertain clinical significance

Inherited Mutations in 17 Breast Cancer Susceptibility Genes Among a Large Triple-Negative Breast Cancer Cohort Unselected for Family History of Breast Cancer

(2015) Fergus J. Couch et al.   JOURNAL OF CLINICAL ONCOLOGY

Pre-test genetic counseling services for hereditary breast and ovarian cancer delivered by non-genetics professionals in the state of Florida

(2014) S.T. Vadaparampil et al.   CLINICAL GENETICS

Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain)

(2013) Pilar Blay et al.   BMC CANCER

A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes

(2013) J.M. Eggington et al.   CLINICAL GENETICS

A Statewide Survey of Practitioners to Assess Knowledge and Clinical Practices Regarding Hereditary Breast and Ovarian Cancer

(2013) Tuya Pal et al.   Genetic Testing and Molecular Biomarkers

Functional Assays for Analysis of Variants of Uncertain Significance inBRCA2

(2013) Lucia Guidugli et al.   HUMAN MUTATION

Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE

(2013) Nasim Mavaddat et al.   JNCI-Journal of the National Cancer Institute

The Angelina Jolie effect

(2013) Paul A James et al.   MEDICAL JOURNAL OF AUSTRALIA

BRCA1/2 Sequence Variants of Uncertain Significance: A Primer for Providers to Assist in Discussions and in Medical Management

(2013) N. M. Lindor et al.   ONCOLOGIST

A Classification Model for BRCA2 DNA Binding Domain Missense Variants Based on Homology-Directed Repair Activity

(2012) L. Guidugli et al.   CANCER RESEARCH

A guide for functional analysis ofBRCA1variants of uncertain significance

(2012) Gaël A. Millot et al.   HUMAN MUTATION

BRCA Mutation Frequency and Patterns of Treatment Response in BRCA Mutation–Positive Women With Ovarian Cancer: A Report From the Australian Ovarian Cancer Study Group

(2012) Kathryn Alsop et al.   JOURNAL OF CLINICAL ONCOLOGY

Variants of Uncertain Significance inBRCA1andBRCA2assessment of in silico analysis and a proposal for communication in genetic counselling

(2012) Setareh Moghadasi et al.   JOURNAL OF MEDICAL GENETICS

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

(2012) Amanda B Spurdle et al.   JOURNAL OF MEDICAL GENETICS

A Computational Method to Classify Variants of Uncertain Significance Using Functional Assay Data with Application to BRCA1

(2011) E. S. Iversen et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

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

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity

(2010) Logan C. Walker et al.   HUMAN MUTATION

Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial

(2010) Andrew Tutt et al.   LANCET

Genetic susceptibility to breast cancer

(2010) Nasim Mavaddat et al.   Molecular Oncology

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

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

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

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

(2008) David E. Goldgar et al.   HUMAN MUTATION

Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group

(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

The counsellees' view of an unclassified variant in BRCA1/2: recall, interpretation, and impact on life

(2007) Joël Vos et al.   PSYCHO-ONCOLOGY