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Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data.
(NATURE PORTFOLIO, 2019-07-17)
Crohn Disease (CD) is a complex genetic disorder for which more than 140 genes have been identified using genome wide association studies (GWAS). However, the genetic architecture of the trait remains largely unknown. The ...
Rare epidermal growth factor receptor (EGFR) mutations in non-small cell lung cancer.
(ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD, 2020-04-01)
Epidermal growth factor receptor (EGFR) mutations are the second most common oncogenic driver event in non-small cell lung cancer (NSCLC). Classical activating mutations (exon 19 deletions and the L858R point mutation) ...
12 new susceptibility loci for prostate cancer identified by genome-wide association study in Japanese population.
(NATURE PORTFOLIO, 2019-09-27)
Genome-wide association studies (GWAS) have identified ~170 genetic loci associated with prostate cancer (PCa) risk, but most of them were identified in European populations. We here performed a GWAS and replication study ...
Analysis of 153 115 patients with hematological malignancies refines the spectrum of familial risk.
(AMER SOC HEMATOLOGY, 2019-09)
Estimating familial cancer risks is clinically important in being able to discriminate between individuals in the population at differing risk for malignancy. To gain insight into the familial risk for the different ...
Evaluation of Cancer-Based Criteria for Use in Mainstream BRCA1 and BRCA2 Genetic Testing in Patients With Breast Cancer.
(AMER MEDICAL ASSOC, 2019-05-03)
IMPORTANCE: Increasing BRCA1 and BRCA2 (collectively termed herein as BRCA) gene testing is required to improve cancer management and prevent BRCA-related cancers. OBJECTIVE: To evaluate mainstream genetic testing using ...
Insight into genetic predisposition to chronic lymphocytic leukemia from integrative epigenomics.
(NATURE PUBLISHING GROUP, 2019-08-09)
Genome-wide association studies have provided evidence for inherited genetic predisposition to chronic lymphocytic leukemia (CLL). To gain insight into the mechanisms underlying CLL risk we analyze chromatin accessibility, ...
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
(NATURE PORTFOLIO, 2021-02-17)
Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in ...
A molecular quantitative trait locus map for osteoarthritis.
(NATURE PORTFOLIO, 2021-02-26)
Osteoarthritis causes pain and functional disability for over 500 million people worldwide. To develop disease-stratifying tools and modifying therapies, we need a better understanding of the molecular basis of the disease ...
Transcriptome-wide association study reveals candidate causal genes for lung cancer.
(WILEY, 2020-04-01)
We have recently completed the largest GWAS on lung cancer including 29,266 cases and 56,450 controls of European descent. The goal of our study has been to integrate the complete GWAS results with a large-scale expression ...
Germline-focused analysis of tumour-detected variants in 49,264 cancer patients: ESMO Precision Medicine Working Group recommendations.
(ELSEVIER, 2023-03-01)
BACKGROUND: The European Society for Medical Oncology Precision Medicine Working Group (ESMO PMWG) was reconvened to update its 2018/19 recommendations on follow-up of putative germline variants detected on tumour-only ...