Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing
Published 2018 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing
Authors
Keywords
-
Journal
INTERNATIONAL JOURNAL OF CANCER
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2018-10-11
DOI
10.1002/ijc.31921
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers
- (2017) Lisa Golmard et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies
- (2017) Shirleny R. Cardoso et al. HAEMATOLOGICA
- Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies
- (2017) Shirleny R. Cardoso et al. HAEMATOLOGICA
- Clinical and Molecular Heterogeneity of RTEL1 Deficiency
- (2017) Carsten Speckmann et al. Frontiers in Immunology
- GENESIS: a French national resource to study the missing heritability of breast cancer
- (2016) Olga M. Sinilnikova et al. BMC CANCER
- Reevaluation of RINT1 as a breast cancer predisposition gene
- (2016) Na Li et al. BREAST CANCER RESEARCH AND TREATMENT
- Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care
- (2016) Ella R. Thompson et al. JOURNAL OF CLINICAL ONCOLOGY
- PALB2,CHEK2andATMrare variants and cancer risk: data from COGS
- (2016) Melissa C Southey et al. JOURNAL OF MEDICAL GENETICS
- Rare Variants inRTEL1Are Associated with Familial Interstitial Pneumonia
- (2015) Joy D. Cogan et al. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
- HeterozygousRTEL1mutations are associated with familial pulmonary fibrosis
- (2015) Caroline Kannengiesser et al. EUROPEAN RESPIRATORY JOURNAL
- Germline mutations causing familial lung cancer
- (2015) Koichi Tomoshige et al. JOURNAL OF HUMAN GENETICS
- Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening
- (2015) Bridget D Stuart 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
- Growing recognition of the role for rare missense substitutions in breast cancer susceptibility
- (2014) Sean V Tavtigian et al. Biomarkers in Medicine
- 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
- Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome-Spectrum Cancers
- (2014) D. J. Park et al. Cancer Discovery
- ClinVar: public archive of relationships among sequence variation and human phenotype
- (2013) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair
- (2013) J-Y Park et al. ONCOGENE
- Rare Mutations in XRCC2 Increase the Risk of Breast Cancer
- (2012) D.J. Park et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
- (2012) H. Thorvaldsdottir et al. BRIEFINGS IN BIOINFORMATICS
- Rare germline mutations inPALB2and breast cancer risk: A population-based study
- (2012) Marc Tischkowitz et al. HUMAN MUTATION
- Rare variants in XRCC2 as breast cancer susceptibility alleles: Table 1
- (2012) Florentine S Hilbers et al. JOURNAL OF MEDICAL GENETICS
- Sarcomas in TP53 germline mutation carriers
- (2011) Simona Ognjanovic et al. CANCER
- Contribution of Inherited Mutations in the BRCA2-Interacting Protein PALB2 to Familial Breast Cancer
- (2011) S. Casadei et al. CANCER RESEARCH
- Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer
- (2011) Heide Hellebrand et al. HUMAN MUTATION
- Integrative genomics viewer
- (2011) James T Robinson et al. NATURE BIOTECHNOLOGY
- Functionally recurrent rearrangements of the MAST kinase and Notch gene families in breast cancer
- (2011) Dan R Robinson et al. NATURE MEDICINE
- Fast and accurate long-read alignment with Burrows–Wheeler transform
- (2010) Heng Li et al. BIOINFORMATICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene
- (2010) Alfons Meindl et al. NATURE GENETICS
- Rare, Evolutionarily Unlikely Missense Substitutions in ATM Confer Increased Risk of Breast Cancer
- (2009) Sean V. Tavtigian et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Detection of nonneutral substitution rates on mammalian phylogenies
- (2009) K. S. Pollard et al. GENOME RESEARCH
- The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions
- (2008) A C Antoniou et al. BRITISH JOURNAL OF CANCER
- Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications
- (2008) Sean V. Tavtigian et al. HUMAN MUTATION
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started