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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 ...
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 ...
The impact of coding germline variants on contralateral breast cancer risk and survival.
(CELL PRESS, 2023-03-02)
Evidence linking coding germline variants in breast cancer (BC)-susceptibility genes other than BRCA1, BRCA2, and CHEK2 with contralateral breast cancer (CBC) risk and breast cancer-specific survival (BCSS) is scarce. The ...
Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria.
(NATURE PORTFOLIO, 2022-02-21)
Genetic testing for cancer predisposition has been curtailed by the cost of sequencing, and testing has been restricted by eligibility criteria. As the cost of sequencing decreases, the question of expanding multi-gene ...
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
(CELL PRESS, 2022-05-05)
We report an autosomal recessive, multi-organ tumor predisposition syndrome, caused by bi-allelic loss-of-function germline variants in the base excision repair (BER) gene MBD4. We identified five individuals with bi-allelic ...
Lack of an association between gallstone disease and bilirubin levels with risk of colorectal cancer: a Mendelian randomisation analysis.
(SPRINGERNATURE, 2021-03-16)
BACKGROUND: Epidemiological studies of the relationship between gallstone disease and circulating levels of bilirubin with risk of developing colorectal cancer (CRC) have been inconsistent. To address possible confounding ...
First international workshop of the ATM and cancer risk group (4-5 December 2019).
(SPRINGER, 2021-06-14)
The first International Workshop of the ATM and Cancer Risk group focusing on the role of Ataxia-Telangiectasia Mutated (ATM) gene in cancer was held on December 4 and 5, 2019 at Institut Curie in Paris, France. It was ...
Two Novel Susceptibility Loci for Prostate Cancer in Men of African Ancestry.
(OXFORD UNIV PRESS INC, 2017-08-01)
Prostate cancer incidence is 1.6-fold higher in African Americans than in other populations. The risk factors that drive this disparity are unknown and potentially consist of social, environmental, and genetic influences. ...