BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

(2018) Timothy R. Rebbeck et al.   HUMAN MUTATION

Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

(2017) Karoline B. Kuchenbaecker et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Gaps in Incorporating Germline Genetic Testing Into Treatment Decision-Making for Early-Stage Breast Cancer

(2017) Allison W. Kurian et al.   JOURNAL OF CLINICAL ONCOLOGY

Lynch Syndrome Limbo: Patient Understanding of Variants of Uncertain Significance

(2017) Ilana Solomon et al.   Journal of Genetic Counseling

TheBRCA1c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

(2017) Setareh Moghadasi et al.   JOURNAL OF MEDICAL GENETICS

Multigene Testing for Hereditary Cancer: When, Why, and How

(2017) Kenneth Offit   Journal of the National Comprehensive Cancer Network

Time to incorporate germline multigene panel testing into breast and ovarian cancer patient care

(2016) Rossella Graffeo et al.   BREAST CANCER RESEARCH AND TREATMENT

Public variant databases: liability?

(2016) Adrian Thorogood et al.   GENETICS IN MEDICINE

Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants

(2016) Maxime P. Vallée et al.   HUMAN MUTATION

The Human Variome Project

(2016) John Burn et al.   HUMAN MUTATION

BRCA Share: A Collection of Clinical BRCA Gene Variants

(2016) Christophe Béroud et al.   HUMAN MUTATION

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

(2016) Eloisa Arbustini et al.   JNCI-Journal of the National Cancer Institute

The ExAC browser: displaying reference data information from over 60 000 exomes

(2016) Konrad J. Karczewski et al.   NUCLEIC ACIDS RESEARCH

The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?

(2016) Marie Eliade et al.   Oncotarget

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

(2016) Eloisa Arbustini et al.   JNCI-Journal of the National Cancer Institute

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

A Python package for parsing, validating, mapping and formatting sequence variants using HGVS nomenclature

(2014) Reece K. Hart et al.   BIOINFORMATICS

Realizing the promise of cancer predisposition genes

(2014) Nazneen Rahman   NATURE

CrossMap: a versatile tool for coordinate conversion between genome assemblies

(2013) Hao Zhao et al.   BIOINFORMATICS

Multiplex Genetic Testing for Cancer Susceptibility: Out on the High Wire Without a Net?

(2013) Susan M. Domchek et al.   JOURNAL OF CLINICAL ONCOLOGY

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

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

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

The 1000 Genomes Project: data management and community access

(2012) Laura Clarke et al.   NATURE METHODS

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

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

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

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