New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing

Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer

(2015) Michelle W. Wong-Brown et al.   BREAST CANCER RESEARCH AND TREATMENT

Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic

(2015) Samantha B. Foley et al.   EBioMedicine

Nonoptical Massive Parallel DNA Sequencing ofBRCA1andBRCA2Genes in a Diagnostic Setting

(2015) José Luis Costa et al.   HUMAN MUTATION

Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic predispositions for BRCAx familial breast cancer

(2014) Hongxiu Wen et al.   BMC CANCER

Evaluation and optimisation of indel detection workflows for ion torrent sequencing of the BRCA1 and BRCA2 genes

(2014) Zhen Yeo et al.   BMC GENOMICS

Considerations for Comprehensive Assessment of Genetic Predisposition in Familial Breast Cancer

(2014) Henry Lynch et al.   Breast Journal

Frequency of mutations in individuals with breast cancer referred forBRCA1andBRCA2testing using next-generation sequencing with a 25-gene panel

(2014) Nadine Tung et al.   CANCER

Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland

(2014) C. Cybulski et al.   CLINICAL GENETICS

Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing

(2014) Magdalena Ratajska et al.   JOURNAL OF APPLIED GENETICS

American BRCA Outcomes and Utilization of Testing (ABOUT) Study: A Pragmatic Research Model that Incorporates Personalized Medicine/Patient-Centered Outcomes in a Real World Setting

(2014) Joanne Armstrong et al.   Journal of Genetic Counseling

Genetic testing and familial implications in breast-ovarian cancer families

(2014) Jan C. Oosterwijk et al.   MATURITAS

Saturation editing of genomic regions by multiplex homology-directed repair

(2014) Gregory M. Findlay et al.   NATURE

Understanding ofBRCA1/2genetic tests results: the importance of objective and subjective numeracy

(2014) Yaniv Hanoch et al.   PSYCHO-ONCOLOGY

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

(2014) F. J. Couch et al.   SCIENCE

Life after genetics

(2014) Jay Shendure   Genome Medicine

The Role of Testing forBRCA1andBRCA2Mutations in Cancer Prevention

(2014) Anne Marie McCarthy et al.   JAMA Internal Medicine

Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model

(2013) Julien Tarabeux et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Multiplex Genetic Testing for Cancer Susceptibility: Out on the High Wire Without a Net?

(2013) Susan M. Domchek et al.   JOURNAL OF CLINICAL ONCOLOGY

The promise of whole-exome sequencing in medical genetics

(2013) Bahareh Rabbani et al.   JOURNAL OF HUMAN GENETICS

SIFT Indel: Predictions for the Functional Effects of Amino Acid Insertions/Deletions in Proteins

(2013) Jing Hu et al.   PLoS One

Integrative Analysis of Complex Cancer Genomics and Clinical Profiles Using the cBioPortal

(2013) J. Gao et al.   Science Signaling

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes

(2012) Lídia Feliubadaló et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Limited significance of family history for presence of BRCA1 gene mutation in Polish breast and ovarian cancer cases

(2012) Izabela Brozek et al.   Familial Cancer

High frequency of BRCA1 founder mutations in Polish women with nonfamilial breast cancer

(2012) Pawel Gaj et al.   Familial Cancer

Development of a Next-Generation Sequencing Method for BRCA Mutation Screening

(2012) Maurice Chan et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Comprehensive molecular portraits of human breast tumours

(2012) Daniel C. Koboldt et al.   NATURE

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling

(2011) Marinela Capanu et al.   GENETIC EPIDEMIOLOGY

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

(2011) Noralane M. Lindor et al.   HUMAN MUTATION

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients: high proportion of population specific alterations in BRCA1 gene

(2010) Ivana Ticha et al.   BREAST CANCER RESEARCH AND TREATMENT

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

Novel germline mutations in BRCA2 gene among breast and breast-ovarian cancer families from Poland

(2010) Aneta Balabas et al.   Familial Cancer

Characterization ofBRCA1andBRCA2deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study

(2010) Åke Borg et al.   HUMAN MUTATION

Genetic susceptibility to breast cancer

(2010) Nasim Mavaddat et al.   Molecular Oncology

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

(2009) Leila Mohammadi et al.   BMC CANCER

BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer

(2008) Mads Thomassen et al.   ACTA ONCOLOGICA

Incorporating the amino acid properties to predict the significance of missense mutations

(2008) Tze-Chuen Lee et al.   AMINO ACIDS

Functional Assays for Classification of BRCA2 Variants of Uncertain Significance

(2008) D. J. Farrugia et al.   CANCER RESEARCH

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

(2008) Sharon E. Plon et al.   HUMAN MUTATION

Clinical Classification ofBRCA1andBRCA2DNA Sequence Variants: The Value of Cytokeratin Profiles and Evolutionary Analysis—A Report From the kConFab Investigators

(2008) Amanda B. Spurdle et al.   JOURNAL OF CLINICAL ONCOLOGY