Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity

Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants

(2016) Maxime P. Vallée et al.   HUMAN MUTATION

No evidence that protein truncating variants inBRIP1are associated with breast cancer risk: implications for gene panel testing

(2016) Douglas F Easton et al.   JOURNAL OF MEDICAL GENETICS

Multigene testing of moderate-risk genes: be mindful of the missense

(2016) E L Young et al.   JOURNAL OF MEDICAL GENETICS

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers

(2015) Gaëlle Bougeard et al.   JOURNAL OF CLINICAL ONCOLOGY

Next-Generation Sequencing of the BRCA1 and BRCA2 Genes for the Genetic Diagnostics of Hereditary Breast and/or Ovarian Cancer

(2015) Daniel Trujillano et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer

(2015) Susan J. Ramus et al.   JNCI-Journal of the National Cancer Institute

Validation of an NGS Approach for Diagnostic BRCA1/BRCA2 Mutation Testing

(2015) Daniela Dacheva et al.   Molecular Diagnosis & Therapy

Germline RECQL mutations are associated with breast cancer susceptibility

(2015) Cezary Cybulski et al.   NATURE GENETICS

Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk

(2015) Douglas F. Easton et al.   NEW ENGLAND JOURNAL OF MEDICINE

Prioritization Of Nonsynonymous Single Nucleotide Variants For Exome Sequencing Studies Via Integrative Learning On Multiple Genomic Data

(2015) Mengmeng Wu et al.   Scientific Reports

Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer

(2015) Susan J. Ramus et al.   JNCI-Journal of the National Cancer Institute

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

(2015) C. Dong et al.   HUMAN MOLECULAR GENETICS

The role of targetedBRCA1/BRCA2mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry

(2014) A. Peixoto et al.   CLINICAL GENETICS

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

(2014) Laurent Castéra et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Pathogenicity Evaluation of BRCA1 and BRCA2 Unclassified Variants Identified in Portuguese Breast/Ovarian Cancer Families

(2014) Catarina Santos et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Olaparib maintenance therapy in patients with platinum-sensitive relapsed serous ovarian cancer: a preplanned retrospective analysis of outcomes by BRCA status in a randomised phase 2 trial

(2014) Jonathan Ledermann et al.   LANCET ONCOLOGY

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Breast-Cancer Risk in Families with Mutations in PALB2

(2014) Antonis C. Antoniou et al.   NEW ENGLAND JOURNAL OF MEDICINE

In silico prediction of splice-altering single nucleotide variants in the human genome

(2014) Xueqiu Jian et al.   NUCLEIC ACIDS RESEARCH

Multifactorial Likelihood Assessment of BRCA1 and BRCA2 Missense Variants Confirms That BRCA1:c.122A>G(p.His41Arg) Is a Pathogenic Mutation

(2014) Phillip J. Whiley et al.   PLoS One

The Validation and Clinical Implementation of BRCAplus: A Comprehensive High-Risk Breast Cancer Diagnostic Assay

(2014) Hansook Kim Chong et al.   PLoS One

Two Decades After BRCA: Setting Paradigms in Personalized Cancer Care and Prevention

(2014) F. J. Couch et al.   SCIENCE

High cumulative risks of cancer in patients withPTENhamartoma tumour syndrome

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

Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE

(2013) Nasim Mavaddat et al.   JNCI-Journal of the National Cancer Institute

Consequences of germline variation disrupting the constitutional translational initiation codon start sites ofMLH1andBRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity

(2013) Michael T. Parsons et al.   MOLECULAR CARCINOGENESIS

Understanding the limitations of next generation sequencing informatics, an approach to clinical pipeline validation using artificial data sets

(2013) Robert Daber et al.   Cancer Genetics

CONTRA: copy number analysis for targeted resequencing

(2012) Jason Li et al.   BIOINFORMATICS

Response to DNA damage of CHEK2 missense mutations in familial breast cancer

(2012) Wendy Roeb et al.   HUMAN MOLECULAR GENETICS

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

Germline RAD51C mutations confer susceptibility to ovarian cancer

(2012) Chey Loveday et al.   NATURE GENETICS

Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV

(2011) Jarupon Fah Sathirapongsasuti et al.   BIOINFORMATICS

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

Risk of Breast Cancer in Women With a CHEK2 Mutation With and Without a Family History of Breast Cancer

(2011) Cezary Cybulski et al.   JOURNAL OF CLINICAL ONCOLOGY

Germline mutations in RAD51D confer susceptibility to ovarian cancer

(2011) Chey Loveday et al.   NATURE 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

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

(2009) Chao Xie et al.   BMC BIOINFORMATICS

Characterization of BRCA1 ring finger variants of uncertain significance

(2009) Kevin Sweet et al.   BREAST CANCER RESEARCH AND TREATMENT

TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset

(2009) Carla Pinto et al.   Familial Cancer

CHEK2 Mutations Affecting Kinase Activity Together With Mutations in TP53 Indicate a Functional Pathway Associated with Resistance to Epirubicin in Primary Breast Cancer

(2008) Ranjan Chrisanthar et al.   PLoS One