Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes

ACMG clinical laboratory standards for next-generation sequencing

(2013) Heidi L. Rehm et al.   GENETICS IN MEDICINE

High cumulative risks of cancer in patients withPTENhamartoma tumour syndrome

(2013) Virginie Bubien et al.   JOURNAL OF MEDICAL GENETICS

CONTRA: copy number analysis for targeted resequencing

(2012) Jason Li et al.   BIOINFORMATICS

Breast cancer phenotype in women with TP53 germline mutations: a Li-Fraumeni syndrome consortium effort

(2012) Serena Masciari et al.   BREAST CANCER RESEARCH AND TREATMENT

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

(2012) Claude Houdayer et al.   HUMAN MUTATION

Early occurrence of lung adenocarcinoma and breast cancer after radiotherapy of a chest wall sarcoma in a patient with a de novo germline mutation in TP53

(2011) Alessandra Ferrarini et al.   Familial Cancer

Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome

(2011) Valérie Bonadona   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing

(2011) T. Walsh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Multiplex Target Enrichment Using DNA Indexing for Ultra-High Throughput SNP Detection

(2010) E. M. Kenny et al.   DNA RESEARCH

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

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

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

(2010) Alfons Meindl et al.   NATURE GENETICS

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

Radio-induced malignancies after breast cancer post-operative radiotherapy in patients with Li- Fraumeni syndrome

(2010) Steve Heymann et al.   Radiation Oncology

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

(2009) K. Ye et al.   BIOINFORMATICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

CNV-seq, a new method to detect copy number variation using high-throughput sequencing

(2009) Chao Xie et al.   BMC BIOINFORMATICS

2009 Version of the Chompret Criteria for Li Fraumeni Syndrome

(2009) Julie Tinat et al.   JOURNAL OF CLINICAL ONCOLOGY

Beyond Li Fraumeni Syndrome: Clinical Characteristics of Families Withp53Germline Mutations

(2009) Kelly D. Gonzalez et al.   JOURNAL OF CLINICAL ONCOLOGY

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications

(2008) Sean V. Tavtigian et al.   HUMAN MUTATION

High-resolution DNA melting analysis: advancements and limitations

(2008) Carl T. Wittwer   HUMAN MUTATION

Identification of genetic variants using bar-coded multiplexed sequencing

(2008) David W Craig et al.   NATURE METHODS