Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report

Next-Generation Sequencing–Based Detection of Germline Copy Number Variations in BRCA1 / BRCA2

(2017) Ane Y. Schmidt et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome

(2017) Paola Concolino et al.   Molecular Diagnosis & Therapy

Prevalence of BRCA1 and BRCA2 large genomic rearrangements in Tunisian high risk breast/ovarian cancer families: Implications for genetic testing

(2017) Aouatef Riahi et al.   Cancer Genetics

Finding all BRCA pathogenic mutation carriers: best practice models

(2016) Nicoline Hoogerbrugge et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

New challenges for BRCA testing: a view from the diagnostic laboratory

(2016) Andrew J Wallace   EUROPEAN JOURNAL OF HUMAN GENETICS

NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017

(2016) Mary B. Daly et al.   Journal of the National Comprehensive Cancer Network

The Role of Risk-Reducing Surgery in Hereditary Breast and Ovarian Cancer

(2016) Lynn C. Hartmann et al.   NEW ENGLAND JOURNAL OF MEDICINE

Cancer predisposition genes: molecular mechanisms and clinical impact on personalized cancer care: examples of Lynch and HBOC syndromes

(2015) Qing Wang   ACTA PHARMACOLOGICA SINICA

Breast Cancer Risks and Risk Prediction Models

(2015) Christoph Engel et al.   Breast Care

The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches

(2015) Valeria D'Argenio et al.   CLINICA CHIMICA ACTA

The importance of analysis of long-range rearrangement of BRCA1 and BRCA2 in genetic diagnosis of familial breast cancer

(2015) Ava Kwong et al.   Cancer Genetics

Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives

(2015) Vincenza Precone et al.   Biomed Research International

Should a BRCA2 stop codon human variant, usually considered a polymorphism, be classified as a predisposing mutation?

(2014) Valeria D'Argenio et al.   CANCER

Characterization of four novel BRCA2 large genomic rearrangements in Spanish breast/ovarian cancer families: review of the literature, and reevaluation of the genetic mechanisms involved in their origin

(2012) Gorka Ruiz de Garibay et al.   BREAST CANCER RESEARCH AND TREATMENT

Clinical significance of large rearrangements inBRCA1andBRCA2

(2012) Thaddeus Judkins et al.   CANCER

Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform

(2011) B. C. Lim et al.   JOURNAL OF MEDICAL GENETICS

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