EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients

Interlaboratory Diagnostic Validation of Conformation-Sensitive Capillary Electrophoresis for Mutation Scanning

(2010) C. J. Mattocks et al.   CLINICAL CHEMISTRY

A One-Step Prescreening for Point Mutations and Large Rearrangement in BRCA1 and BRCA2 Genes Using Quantitative Polymerase Chain Reaction and High-Resolution Melting Curve Analysis

(2010) Florence Coulet et al.   Genetic Testing and Molecular Biomarkers

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

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

(2010) M William Audeh et al.   LANCET

A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR

(2009) Lucia Perez-Cabornero et al.   EUROPEAN JOURNAL OF 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

Diagnostic guidelines for high-resolution melting curve (HRM) analysis: An interlaboratory validation ofBRCA1mutation scanning using the 96-well LightScanner™

(2009) Nienke van der Stoep et al.   HUMAN MUTATION

Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis

(2009) Tú Nguyen-Dumont et al.   HUMAN MUTATION

The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions

(2008) A C Antoniou et al.   BRITISH JOURNAL OF CANCER

MLPA screening in theBRCA1gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases

(2008) Stefanie Engert et al.   HUMAN MUTATION

Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance

(2008) Robert M.W. Hofstra et al.   HUMAN MUTATION

Evaluation of in silico splice tools for decision-making in molecular diagnosis

(2008) Claude Houdayer 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

High-resolution DNA melting analysis: advancements and limitations

(2008) Carl T. Wittwer   HUMAN MUTATION