Rare missense mutations in RECQL and POLG associate with inherited predisposition to breast cancer
Published 2018 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Rare missense mutations in RECQL
and POLG
associate with inherited predisposition to breast cancer
Authors
Keywords
-
Journal
INTERNATIONAL JOURNAL OF CANCER
Volume 142, Issue 11, Pages 2286-2292
Publisher
Wiley
Online
2018-01-17
DOI
10.1002/ijc.31259
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility
- (2017) Tuomo Mantere et al. Scientific Reports
- Germline RECQL mutations in high risk Chinese breast cancer patients
- (2016) Ava Kwong et al. BREAST CANCER RESEARCH AND TREATMENT
- Hereditary truncating mutations of DNA repair and other genes inBRCA1/BRCA2/PALB2-negatively tested breast cancer patients
- (2016) F. Lhota et al. CLINICAL GENETICS
- Analysis of a RECQL splicing mutation, c.1667_1667+3delAGTA, in breast cancer patients and controls from Central Europe
- (2016) Natalia Bogdanova et al. Familial Cancer
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility
- (2016) Tuomo Mantere et al. PLoS Genetics
- Inherited Mutations in 17 Breast Cancer Susceptibility Genes Among a Large Triple-Negative Breast Cancer Cohort Unselected for Family History of Breast Cancer
- (2015) Fergus J. Couch et al. JOURNAL OF CLINICAL ONCOLOGY
- Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae
- (2015) Enrico Baruffini et al. MITOCHONDRION
- Germline RECQL mutations are associated with breast cancer susceptibility
- (2015) Cezary Cybulski et al. NATURE GENETICS
- Mutations in RECQL Gene Are Associated with Predisposition to Breast Cancer
- (2015) Jie Sun et al. PLoS Genetics
- DNA polymerase γ and disease: what we have learned from yeast
- (2015) Tiziana Lodi et al. Frontiers in Genetics
- Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties
- (2015) Bhupendra Singh et al. PLoS One
- Growing recognition of the role for rare missense substitutions in breast cancer susceptibility
- (2014) Sean V Tavtigian et al. Biomarkers in Medicine
- Breast-Cancer Risk in Families with Mutations in PALB2
- (2014) Antonis C. Antoniou et al. NEW ENGLAND JOURNAL OF MEDICINE
- Two Decades After BRCA: Setting Paradigms in Personalized Cancer Care and Prevention
- (2014) F. J. Couch et al. SCIENCE
- Inherited Genetic Susceptibility to Breast Cancer
- (2013) Maya Ghoussaini et al. AMERICAN JOURNAL OF PATHOLOGY
- Mitochondria and Familial Predisposition to Breast Cancer
- (2013) Stefania Weigl et al. CURRENT GENOMICS
- Human RECQ1 promotes restart of replication forks reversed by DNA topoisomerase I inhibition
- (2013) Matteo Berti et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- Clinical and Molecular Features of POLG-Related Mitochondrial Disease
- (2013) J. D. Stumpf et al. Cold Spring Harbor Perspectives in Biology
- Rare Mutations in XRCC2 Increase the Risk of Breast Cancer
- (2012) D.J. Park et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Lifetime Cancer Risks in Individuals with Germline PTEN Mutations
- (2012) M.-H. Tan et al. CLINICAL CANCER RESEARCH
- Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families
- (2012) Ana Osorio et al. HUMAN MOLECULAR GENETICS
- Germline variants of base excision repair genes and breast cancer: A polymorphism in DNA polymerase gamma modifies gene expression and breast cancer risk
- (2012) Odilia Popanda et al. INTERNATIONAL JOURNAL OF CANCER
- Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer
- (2012) Elise Ruark et al. NATURE
- Hallmarks of Cancer: The Next Generation
- (2011) Douglas Hanahan et al. CELL
- Defects in mitochondrial DNA replication and human disease
- (2011) William C. Copeland CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY
- Integrative genomics viewer
- (2011) James T Robinson et al. NATURE BIOTECHNOLOGY
- Hereditary breast cancer and genetic counseling in young women
- (2010) Joan Brunet BREAST CANCER RESEARCH AND TREATMENT
- Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene
- (2010) Alfons Meindl et al. NATURE GENETICS
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- MutationTaster evaluates disease-causing potential of sequence alterations
- (2010) Jana Marie Schwarz et al. NATURE METHODS
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Rare, Evolutionarily Unlikely Missense Substitutions in ATM Confer Increased Risk of Breast Cancer
- (2009) Sean V. Tavtigian et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in mitochondrial DNA polymerase-γ promote breast tumorigenesis
- (2009) Keshav K Singh et al. JOURNAL OF HUMAN GENETICS
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- TP53 Mutations in Human Cancers: Origins, Consequences, and Clinical Use
- (2009) M. Olivier et al. Cold Spring Harbor Perspectives in Biology
- Allelic Imbalance at rs6983267 Suggests Selection of the Risk Allele in Somatic Colorectal Tumor Evolution
- (2008) S. Tuupanen et al. CANCER RESEARCH
- The emerging landscape of breast cancer susceptibility
- (2007) Michael R Stratton et al. NATURE GENETICS
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAdd 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 Now