A diagnostic genetic test for the physical mapping of germline rearrangements in the susceptibility breast cancer genes BRCA1 and BRCA2

Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy

(2011) Karine Nguyen et al.   ANNALS OF NEUROLOGY

Global cancer statistics

(2011) Ahmedin Jemal et al.   CA-A CANCER JOURNAL FOR CLINICIANS

Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations

(2011) Kim De Leeneer et al.   HUMAN MUTATION

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

(2011) Sandrine Caputo et al.   NUCLEIC ACIDS RESEARCH

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

Haplotype analysis of two recurrent genomic rearrangements in the BRCA1 gene suggests they are founder mutations for the Greek population

(2010) M Pertesi et al.   CLINICAL GENETICS

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

(2010) Virginie Caux-Moncoutier et al.   HUMAN MUTATION

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

(2010) Tom Walsh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

(2010) Mia M. Gaudet et al.   PLoS 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

Mechanisms of change in gene copy number

(2009) P. J. Hastings et al.   NATURE REVIEWS GENETICS

High-resolution melting analysis for rapid screening of BRCA1 and BRCA2 Spanish mutations

(2008) Inmaculada de Juan et al.   BREAST CANCER RESEARCH AND TREATMENT

Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families

(2008) Thomas v. O. Hansen et al.   BREAST CANCER RESEARCH AND TREATMENT

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

Detection and precise mapping of germline rearrangements inBRCA1, BRCA2, MSH2, andMLH1using zoom-in array comparative genomic hybridization (aCGH)

(2008) Johan Staaf et al.   HUMAN MUTATION