Recent submissions
Now showing items 1-20 of 510
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Identification of Genes with Rare Loss of Function Variants Associated with Aggressive Prostate Cancer and Survival.
(Elsevier BV, 2024-03-07)BACKGROUND: Prostate cancer (PrCa) is a substantial cause of mortality among men globally. Rare germline mutations in BRCA2 have been validated robustly as increasing risk of aggressive forms with a poorer prognosis; ... -
Genomic evolution shapes prostate cancer disease type.
(Elsevier BV, 2024-03-13)The development of cancer is an evolutionary process involving the sequential acquisition of genetic alterations that disrupt normal biological processes, enabling tumor cells to rapidly proliferate and eventually invade ... -
Mosquito control exposures and breast cancer risk: analysis of 1071 cases and 2096 controls from the Ghana Breast Health Study.
(BMC, 2023-12-11)Epidemiologic data on insecticide exposures and breast cancer risk are inconclusive and mostly from high-income countries. Using data from 1071 invasive pathologically confirmed breast cancer cases and 2096 controls from ... -
Phenome-wide Mendelian randomisation analysis of 378,142 cases reveals risk factors for eight common cancers.
(Springer Science and Business Media LLC, 2024-03-25)For many cancers there are only a few well-established risk factors. Here, we use summary data from genome-wide association studies (GWAS) in a Mendelian randomisation (MR) phenome-wide association study (PheWAS) to identify ... -
Phenotypic noise and plasticity in cancer evolution.
(Elsevier BV, 2023-11-13)Non-genetic alterations can produce changes in a cell's phenotype. In cancer, these phenomena can influence a cell's fitness by conferring access to heritable, beneficial phenotypes. Herein, we argue that current discussions ... -
Impact of germline DNA repair gene variants on prognosis and treatment of men with advanced prostate cancer.
(NATURE PORTFOLIO, 2023-11-06)The clinical importance of germline variants in DNA repair genes (DRGs) is becoming increasingly recognized, but their impact on advanced prostate cancer prognosis remains unclear. A cohort of 221 newly diagnosed metastatic ... -
Androgen receptor binding sites enabling genetic prediction of mortality due to prostate cancer in cancer-free subjects.
(NATURE PORTFOLIO, 2023-08-23)Prostate cancer (PrCa) is the second most common cancer worldwide in males. While strongly warranted, the prediction of mortality risk due to PrCa, especially before its development, is challenging. Here, we address this ... -
Clonal hematopoiesis and risk of prostate cancer in large samples of European ancestry men.
(OXFORD UNIV PRESS, 2023-01-13)Little is known regarding the potential relationship between clonal hematopoiesis (CH) of indeterminate potential (CHIP), which is the expansion of hematopoietic stem cells with somatic mutations, and risk of prostate ... -
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel.
(BMJ PUBLISHING GROUP, 2023-11-27)BACKGROUND: Polygenic risk score (PRS), calculated based on genome-wide association studies (GWASs), can improve breast cancer (BC) risk assessment. To date, most BC GWASs have been performed in individuals of European ... -
Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival.
(WILEY, 2023-08-01)BACKGROUND: Breast cancer (BC) patients with a germline CHEK2 c.1100delC variant have an increased risk of contralateral BC (CBC) and worse BC-specific survival (BCSS) compared to non-carriers. AIM: To assessed the ... -
Increase in power by obtaining 10 or more controls per case when type-1 error is small in large-scale association studies.
(BMC, 2023-06-29)BACKGROUND: The rule of thumb that there is little gain in statistical power by obtaining more than 4 controls per case, is based on type-1 error α = 0.05. However, association studies that evaluate thousands or millions ... -
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 ... -
Browser-based Data Annotation, Active Learning, and Real-Time Distribution of Artificial Intelligence Models: From Tumor Tissue Microarrays to COVID-19 Radiology.
(Elsevier BV, 2021-01-01)BACKGROUND: Artificial intelligence (AI) is fast becoming the tool of choice for scalable and reliable analysis of medical images. However, constraints in sharing medical data outside the institutional or geographical ... -
PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants.
(NATURE PORTFOLIO, 2023-05-12)We assessed the PREDICT v 2.2 for prognosis of breast cancer patients with pathogenic germline BRCA1 and BRCA2 variants, using follow-up data from 5453 BRCA1/2 carriers from the Consortium of Investigators of Modifiers of ... -
Cancer incidence and mortality in 23 000 patients with type 1 diabetes in the UK: Long-term follow-up.
(WILEY, 2023-08-01)Type 2 diabetes is associated with raised risk of several cancers, but for type 1 diabetes risk data are fewer and inconsistent We assembled a cohort of 23 473 UK patients with insulin-treated diabetes diagnosed at ages ... -
Potential utility of risk stratification for multicancer screening with liquid biopsy tests.
(NATURE PORTFOLIO, 2023-04-22)Our proof-of-concept study reveals the potential of risk stratification by the combined effects of age, polygenic risk scores (PRS), and non-genetic risk factors in increasing the risk-benefit balance of rapidly emerging ... -
The sequence kernel association test for multicategorical outcomes.
(WILEY, 2023-04-19)Disease heterogeneity is ubiquitous in biomedical and clinical studies. In genetic studies, researchers are increasingly interested in understanding the distinct genetic underpinning of subtypes of diseases. However, ... -
Daratumumab, Cyclophosphamide, Bortezomib, Lenalidomide, and Dexamethasone as Induction and Extended Consolidation Improves Outcome in Ultra-High-Risk Multiple Myeloma.
(LIPPINCOTT WILLIAMS & WILKINS, 2023-08-10)PURPOSE: The multicenter OPTIMUM (MUKnine) phase II trial investigated daratumumab, low-dose cyclophosphamide, lenalidomide, bortezomib, and dexamethasone (Dara-CVRd) before and after autologous stem-cell transplant (ASCT) ... -
Associations between genetic variants in mRNA splicing-related genes and risk of lung cancer: a pathway-based analysis from published GWASs.
(NATURE PORTFOLIO, 2017-03-17)mRNA splicing is an important mechanism to regulate mRNA expression. Abnormal regulation of this process may lead to lung cancer. Here, we investigated the associations of 11,966 single-nucleotide polymorphisms (SNPs) in ... -
Novel genetic variants in the P38MAPK pathway gene ZAK and susceptibility to lung cancer.
(WILEY, 2018-02-01)The P38MAPK pathway participates in regulating cell cycle, inflammation, development, cell death, cell differentiation, and tumorigenesis. Genetic variants of some genes in the P38MAPK pathway are reportedly associated ...