Výsledky vyhledávání - "Miriam, A. Smith"

Akademický článek

Population-based germline testing of BRCA1, BRCA2, and PALB2 in breast cancer patients in the United Kingdom: Evidence to support extended testing, and definition of groups who may not require testing

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 100849- (2024)

Purpose: To assess the contribution of germline pathogenic variants (PVs) in population-based series of breast cancers and the best strategy to improve detection rates. Methods: Three cohort studies were utilized, including a hospital-based series id

Externí odkaz: https://doaj.org/article/3e798b711ae8405f937d2e6d36c02588

Zobrazit plný text záznamu

Akademický článek

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Autor: Nicola Whiffin, Konrad J. Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J. Smith, D. Gareth Evans, Angharad M. Roberts, Nicholas M. Quaife, Sebastian Schafer, Owen Rackham, Jessica Alföldi, Anne H. O’Donnell-Luria, Laurent C. Francioli, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Stuart A. Cook, Paul J. R. Barton, Daniel G. MacArthur, James S. Ware

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)

Upstream open reading frames (uORFs), located in 5’ untranslated regions, are regulators of downstream protein translation. Here, Whiffin et al. use the genomes of 15,708 individuals in the Genome Aggregation Database (gnomAD) to systematically ass

Externí odkaz: https://doaj.org/article/a1456bc16ed6477cb17105e2253718e3

Zobrazit plný text záznamu

Development and evaluation of polygenic risk scores for prediction of endometrial cancer risk in European women

Autor: Cemsel Bafligil, Deborah J. Thompson, Artitaya Lophatananon, Neil A.J. Ryan, Miriam J. Smith, Joe Dennis, Krisztina Mekli, Tracy A. O’Mara, D. Gareth Evans, Emma J. Crosbie

Publikováno v: Genetics in Medicine. 24:1847-1856

Single-nucleotide variations (SNVs) (formerly single-nucleotide polymorphism [SNV]) influence genetic predisposition to endometrial cancer. We hypothesized that a polygenic risk score (PRS) comprising multiple SNVs may improve endometrial cancer risk

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c229210434b2f6b64f1b82c4f0fcbfcf
https://doi.org/10.1016/j.gim.2022.05.014

Zobrazit plný text záznamu

Detection of pathogenic variants in breast cancer susceptibility genes in bilateral breast cancer

Autor: D Gareth Evans, George J Burghel, Helene Schlecht, Elaine F Harkness, Ashu Gandhi, Sacha J Howell, Anthony Howell, Claire Forde, Fiona Lalloo, William G Newman, Miriam Jane Smith, Emma Roisin Woodward

Publikováno v: Evans, D G, Burghel, G J, Schlecht, H, Harkness, E F, Gandhi, A, Howell, S J, Howell, A, Forde, C, Lalloo, F, Newman, W G, Smith, M J & Woodward, E R 2023, ' Detection of pathogenic variants in breast cancer susceptibility genes in bilateral breast cancer ', Journal of Medical Genetics . https://doi.org/10.1136/jmg-2023-109196

PurposeTo investigate the frequency of germline pathogenic variants (PVs) in women with bilateral breast cancer.MethodsWe undertookBRCA1/2andCHEK2c.1100delC molecular analysis in 764 samples and a multigene panel in 156. Detection rates were assessed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42e860400de5ccb1fe9afaacddc39578
https://research.manchester.ac.uk/en/publications/f25b9fb4-cc44-4af4-a68c-3c17a503ffd0

Zobrazit plný text záznamu

Re‐evaluation of missense variant classifications in NF2

Autor: Katherine V. Sadler, Charlie F. Rowlands, Philip T. Smith, Claire L. Hartley, Naomi L. Bowers, Nicola Y. Roberts, Jade L. Harris, Andrew J. Wallace, D. Gareth Evans, Ludwine M. Messiaen, Miriam J. Smith

Publikováno v: Human Mutation. 43:643-654

Missense variants in the NF2 gene result in variable NF2 disease presentation. Clinical classification of missense variants often represents a challenge, due to lack of evidence for pathogenicity and function. This study provides a summary of NF2 mis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::099e3594389d642b306ea5ddadb14c36
https://doi.org/10.1002/humu.24370

Zobrazit plný text záznamu

Perspectives on the implications of carrying putative pathogenic variants in the medulloblastoma predisposition genes ELP1 and GPR161

Autor: Miriam J Smith, Emma R Woodward, D Gareth Evans

Publikováno v: Familial Cancer.

Recent genetic sequencing studies in large series’ of predominantly childhood medulloblastoma have implicated loss-of-function, predominantly truncating, variants in the ELP1 and GPR161 genes in causation of the MBSHH subtype specifically. The latt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6854100bcc1c85f2b56f9a22486c2de
https://doi.org/10.1007/s10689-023-00330-7

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání