Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases

Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation

(2010) Michelle D. Sluiter et al.   BREAST CANCER RESEARCH AND TREATMENT

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

(2009) Michael J. Hall et al.   CANCER

Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study

(2009) Virginie Caux-Moncoutier et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application toMLH1germline mutations in Lynch syndrome

(2009) Etienne Rouleau et al.   HUMAN MUTATION

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity-application to four genes:FBN1,FBN2,TGFBR1, andTGFBR2

(2009) Mélissa Yana Frédéric 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

Assessment of functional effects of unclassified genetic variants

(2008) Fergus J. Couch 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

Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins?

(2007) Olga Anczuków et al.   HUMAN MUTATION