Unclassified variants in BRCA genes: guidelines for interpretation

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

Clinical relevance of rare germline sequence variants in cancer genes: evolution and application of classification models

(2010) Amanda B Spurdle   CURRENT OPINION IN GENETICS & DEVELOPMENT

LOH analysis should not be used as a tool to assess whether UVs of BRCA1/2 are pathogenic or not

(2010) E. Beristain et al.   Familial Cancer

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

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

Multimodal Assessment of Protein Functional Deficiency Supports Pathogenicity of BRCA1 p.V1688del

(2009) A. De Nicolo et al.   CANCER RESEARCH

Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations

(2009) Suhwan Chang et al.   JOURNAL OF CLINICAL INVESTIGATION

Prediction of BRCA1-association in hereditary non-BRCA1/2 breast carcinomas with array-CGH

(2008) Simon A. Joosse et al.   BREAST CANCER RESEARCH AND TREATMENT

Functional Assays for Classification of BRCA2 Variants of Uncertain Significance

(2008) D. J. Farrugia et al.   CANCER RESEARCH

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

Prediction and assessment of splicing alterations: implications for clinical testing

(2008) Amanda B. Spurdle 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

A yeast recombination assay to characterize humanBRCA1missense variants of unknown pathological significance

(2008) Maria Adelaide Caligo et al.   HUMAN MUTATION

Intronic variants inBRCA1andBRCA2that affect RNA splicing can be reliably selected by splice-site prediction programs

(2008) Maaike P.G. Vreeswijk et al.   HUMAN MUTATION

Clinical Classification ofBRCA1andBRCA2DNA Sequence Variants: The Value of Cytokeratin Profiles and Evolutionary Analysis—A Report From the kConFab Investigators

(2008) Amanda B. Spurdle et al.   JOURNAL OF CLINICAL ONCOLOGY

BRCA1p.Val1688del Is a Deleterious Mutation That Recurs in Breast and Ovarian Cancer Families From Northeast Italy

(2007) Sandro Malacrida et al.   JOURNAL OF CLINICAL ONCOLOGY