Incomplete penetrance and variable expressivity: from clinical studies to population cohorts
R Kingdom, CF Wright - Frontiers in Genetics, 2022 - frontiersin.org
The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …
phenotypes, from no discernible clinical phenotype to severe disease, even among related …
Genetic predisposition to mosaic Y chromosome loss in blood
Mosaic loss of chromosome Y (LOY) in circulating white blood cells is the most common
form of clonal mosaicism,,,–, yet our knowledge of the causes and consequences of this is …
form of clonal mosaicism,,,–, yet our knowledge of the causes and consequences of this is …
Use of genetic variation to separate the effects of early and later life adiposity on disease risk: mendelian randomisation study
Objective To evaluate whether body size in early life has an independent effect on risk of
disease in later life or whether its influence is mediated by body size in adulthood. Design …
disease in later life or whether its influence is mediated by body size in adulthood. Design …
Smoking, alcohol consumption, and cancer: A mendelian randomisation study in UK Biobank and international genetic consortia participants
SC Larsson, P Carter, S Kar, M Vithayathil… - PLoS …, 2020 - journals.plos.org
Background Smoking is a well-established cause of lung cancer and there is strong
evidence that smoking also increases the risk of several other cancers. Alcohol consumption …
evidence that smoking also increases the risk of several other cancers. Alcohol consumption …
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
RL Milne, KB Kuchenbaecker, K Michailidou… - Nature …, 2017 - nature.com
Most common breast cancer susceptibility variants have been identified through genome-
wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease …
wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease …
SUPERGNOVA: local genetic correlation analysis reveals heterogeneous etiologic sharing of complex traits
Local genetic correlation quantifies the genetic similarity of complex traits in specific
genomic regions. However, accurate estimation of local genetic correlation remains …
genomic regions. However, accurate estimation of local genetic correlation remains …
Cancer progress and priorities: breast cancer
SC Houghton, SE Hankinson - Cancer epidemiology, biomarkers & …, 2021 - AACR
Breast cancer is the most commonly diagnosed invasive cancer among women both
globally and within the United States and the number one cause of cancer-related deaths …
globally and within the United States and the number one cause of cancer-related deaths …
The role of polygenic risk and susceptibility genes in breast cancer over the course of life
N Mars, E Widén, S Kerminen, T Meretoja… - Nature …, 2020 - nature.com
Polygenic risk scores (PRS) for breast cancer have potential to improve risk prediction, but
there is limited information on their utility in various clinical situations. Here we show that …
there is limited information on their utility in various clinical situations. Here we show that …
Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism
Venous thromboembolism (VTE) is a significant contributor to morbidity and mortality. To
advance our understanding of the biology contributing to VTE, we conducted a genome …
advance our understanding of the biology contributing to VTE, we conducted a genome …
Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells
Myeloproliferative neoplasms (MPNs) are blood cancers that are characterized by the
excessive production of mature myeloid cells and arise from the acquisition of somatic driver …
excessive production of mature myeloid cells and arise from the acquisition of somatic driver …