Recent submissions
Now showing items 121-140 of 525
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Additional SNPs improve risk stratification of a polygenic hazard score for prostate cancer.
(SPRINGERNATURE, 2021-01-08)BACKGROUND: Polygenic hazard scores (PHS) can identify individuals with increased risk of prostate cancer. We estimated the benefit of additional SNPs on performance of a previously validated PHS (PHS46). MATERIALS AND ... -
Updates in Prostate Cancer Research and Screening in Men at Genetically Higher Risk.
(SPRINGERNATURE, 2021-01-01)PURPOSE OF REVIEW: Prostate cancer (PrCa) is the most common cancer in men in the western world and is a major source of morbidity and mortality. Currently, general population PrCa screening is not recommended due to the ... -
Genome-wide association study identifies susceptibility loci for acute myeloid leukemia.
(NATURE PORTFOLIO, 2021-10-29)Acute myeloid leukemia (AML) is a hematological malignancy with an undefined heritable risk. Here we perform a meta-analysis of three genome-wide association studies, with replication in a fourth study, incorporating a ... -
A Review of Breast Cancer Risk Factors in Adolescents and Young Adults.
(MDPI, 2021-11-05)Cancer in adolescents and young adults (AYAs) deserves special consideration for several reasons. AYA cancers encompass paediatric malignancies that present at an older age than expected, or early-onset of cancers that are ... -
Genetic Variation in ABCC4 and CFTR and Acute Pancreatitis during Treatment of Pediatric Acute Lymphoblastic Leukemia.
(MDPI, 2021-10-20)BACKGROUND: Acute pancreatitis (AP) is a serious, mechanistically not entirely resolved side effect of L-asparaginase-containing treatment for acute lymphoblastic leukemia (ALL). To find new candidate variations for AP, ... -
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study.
(ELSEVIER SCIENCE INC, 2021-10-19)BACKGROUND: Lynch syndrome is a rare familial cancer syndrome caused by pathogenic variants in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2, that cause predisposition to various cancers, predominantly colorectal and ... -
Diagnostic radiological examinations and risk of intracranial tumours in adults-findings from the Interphone Study.
(OXFORD UNIV PRESS, 2022-05-09)BACKGROUND: Exposure to high doses of ionizing radiation is among the few well-established brain tumour risk factors. We used data from the Interphone study to evaluate the effects of exposure to low-dose radiation from ... -
Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations.
(MASSACHUSETTS MEDICAL SOC, 2021-09-09)BACKGROUND: Cerebral cavernous malformations (CCMs) are common sporadic and inherited vascular malformations of the central nervous system. Although familial CCMs are linked to loss-of-function mutations in KRIT1 (CCM1), ... -
Obesity and Breast Cancer Risk in Men: A National Case-Control Study in England and Wales.
(OXFORD UNIV PRESS, 2021-09-01)BACKGROUND: Breast cancer is rare in men, and information on its causes is very limited from studies that have generally been small. Adult obesity has been shown as a risk factor, but more detailed anthropometric relations ... -
Bidirectional Mendelian randomisation analysis of the relationship between circulating vitamin D concentration and colorectal cancer risk.
(WILEY, 2022-01-15)Epidemiological evidence is consistent with a protective effect of vitamin D against colorectal cancer (CRC), but the observed strong associations are open to confounders and potential reverse causation. Previous Mendelian ... -
Relationship between genetically determined telomere length and glioma risk.
(OXFORD UNIV PRESS INC, 2022-02-01)BACKGROUND: Telomere maintenance is increasingly recognized as being fundamental to glioma oncogenesis with longer leukocyte telomere length (LTL) reported to increase risk of glioma. To gain further insight into the ... -
Mendelian randomisation study of smoking exposure in relation to breast cancer risk.
(SPRINGERNATURE, 2021-10-12)BACKGROUND: Despite a modest association between tobacco smoking and breast cancer risk reported by recent epidemiological studies, it is still equivocal whether smoking is causally related to breast cancer risk. METHODS: ... -
The clinical utility of polygenic risk scores for chronic lymphocytic leukemia.
(SPRINGERNATURE, 2021-12-01) -
Targeting aneuploidy, CIN and mechanisms of DNA content reduction in cancer
(Institute of Cancer Research (University Of London), 2021-02-28)Chromosomal instability (CIN) and aneuploidy are distinct events that can coexist in a tumour and one can result from the other. They can arise through direct errors in mitosis or in DNA damage repair and response machineries, ... -
Investigating a range of late effects of Hodgkin lymphoma treatments
(Institute of Cancer Research (University Of London), 2021-01-31)Dramatic improvement in Hodgkin lymphoma (HL) survival rates over recent decades has come at significant cost: treatment-related late effects which are epitomised in female HL patients treated at young ages. The aims of ... -
Marital status and prostate cancer incidence: a pooled analysis of 12 case-control studies from the PRACTICAL consortium.
(SPRINGER, 2021-07-18)While being in a committed relationship is associated with a better prostate cancer prognosis, little is known about how marital status relates to its incidence. Social support provided by marriage/relationship could promote ... -
Combined Effect of a Polygenic Risk Score and Rare Genetic Variants on Prostate Cancer Risk.
Although prostate cancer is known to have a strong genetic basis and is influenced by both common and rare variants, the ability to investigate the combined effect of such genetic risk factors has been limited to date. We ... -
The effect of sample size on polygenic hazard models for prostate cancer.
(SPRINGERNATURE, 2020-10-01)We determined the effect of sample size on performance of polygenic hazard score (PHS) models in prostate cancer. Age and genotypes were obtained for 40,861 men from the PRACTICAL consortium. The dataset included 201,590 ... -
The BARCODE1 Pilot: a feasibility study of using germline single nucleotide polymorphisms to target prostate cancer screening.
(WILEY, 2021-07-02)OBJECTIVES: To assess the feasibility and uptake of a community-based prostate cancer (PCa) screening programme selecting men according to their genetic risk of PCa. To assess the uptake of PCa screening investigations by ... -
Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction.
(NATURE PORTFOLIO, 2021-01-04)Prostate cancer is a highly heritable disease with large disparities in incidence rates across ancestry populations. We conducted a multiancestry meta-analysis of prostate cancer genome-wide association studies (107,247 ...