Systematic Detection of Pathogenic Alu Element Insertions in NGS-Based Diagnostic Screens: TheBRCA1/BRCA2Example

Molecular Analysis of the Breast Cancer Genes BRCA1 and BRCA2 Using Amplicon-Based Massive Parallel Pyrosequencing

(2012) Geneviève Michils et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Detection of Genomic Variations in BRCA1 and BRCA2 Genes by Long-Range PCR and Next-Generation Sequencing

(2012) Imma Hernan et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

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

(2011) Kim De Leeneer et al.   HUMAN MUTATION

The NF1 Gene Contains Hotspots for L1 Endonuclease-Dependent De Novo Insertion

(2011) Katharina Wimmer et al.   PLoS Genetics

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

(2010) Ana Peixoto et al.   BREAST CANCER RESEARCH AND TREATMENT

Genetic diagnosis of familial breast cancer using clonal sequencing

(2010) Joanne E. Morgan 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

Genetic Predisposition to Breast Cancer: Past, Present, and Future

(2008) Clare Turnbull et al.   Annual Review of Genomics and Human Genetics

The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal

(2008) Ana Peixoto et al.   BREAST CANCER RESEARCH AND TREATMENT

Hereditary breast cancer: from bench to bedside

(2008) Jacques De Grève et al.   CURRENT OPINION IN ONCOLOGY