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Saliva-derived DNA is suitable for the detection of clonal haematopoiesis of indeterminate potential
Autor:
Robert L. O’Reilly, Jared Burke, Philip Harraka, Paul Yeh, Kerryn Howlett, Kiarash Behrouzfar, Amanda Rewse, Helen Tsimiklis, Graham G. Giles, Kristen J. Bubb, Stephen J. Nicholls, Roger L. Milne, Melissa C. Southey
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-8 (2024)
Abstract Clonal haematopoiesis of indeterminate potential (CHIP) has been associated with many adverse health outcomes. However, further research is required to understand the critical genes and pathways relevant to CHIP subtypes, evaluate how CHIP c
Externí odkaz:
https://doaj.org/article/b2a9bf94ecc947d4b3110fe24a50ccfd
Akademický článek
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Autor:
Melissa C. Southey, James G. Dowty, Moeen Riaz, Jason A. Steen, Anne-Laure Renault, Katherine Tucker, Judy Kirk, Paul James, Ingrid Winship, Nicholas Pachter, Nicola Poplawski, Scott Grist, Daniel J. Park, Bernard J. Pope, Khalid Mahmood, Fleur Hammet, Maryam Mahmoodi, Helen Tsimiklis, Derrick Theys, Amanda Rewse, Amanda Willis, April Morrow, Catherine Speechly, Rebecca Harris, Robert Sebra, Eric Schadt, Paul Lacaze, John J. McNeil, Graham G. Giles, Roger L. Milne, John L. Hopper, Tú Nguyen-Dumont
Publikováno v:
npj Breast Cancer, Vol 7, Iss 1, Pp 1-7 (2021)
Abstract Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing are urgently required. Most prior research has been based on women selected for high-risk features and more data is needed
Externí odkaz:
https://doaj.org/article/e1da7e8351b04cec94eb8ba4ee5e1962
Publikováno v:
In Trends in Cancer April 2020 6(4):263-265
Akademický článek
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Autor:
Southey, Melissa C., Dowty, James G., Riaz, Moeen, Steen, Jason A., Renault, Anne-Laure, Tucker, Katherine, Kirk, Judy, James, Paul, Winship, Ingrid, Pachter, Nicholas, Poplawski, Nicola, Grist, Scott, Park, Daniel J., Pope, Bernard J., Mahmood, Khalid, Hammet, Fleur, Mahmoodi, Maryam, Tsimiklis, Helen, Theys, Derrick, Rewse, Amanda, Willis, Amanda, Morrow, April, Speechly, Catherine, Harris, Rebecca, Sebra, Robert, Schadt, Eric, Lacaze, Paul, McNeil, John J., Giles, Graham G., Milne, Roger L., Hopper, John L., Nguyen-Dumont, Tú
Publikováno v:
NPJ Breast Cancer
npj Breast Cancer, Vol 7, Iss 1, Pp 1-7 (2021)
npj Breast Cancer, Vol 7, Iss 1, Pp 1-7 (2021)
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing are urgently required. Most prior research has been based on women selected for high-risk features and more data is needed to make i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::284d57b99d2e1602d303298ccb58ca00
https://doi.org/10.1038/s41523-021-00360-3
https://doi.org/10.1038/s41523-021-00360-3
Publikováno v:
Nature Communications
Heterozygous carriers of germ-line loss-of-function variants in the DNA repair gene PALB2 are at a highly increased lifetime risk for developing breast cancer. While truncating variants in PALB2 are known to increase cancer risk, the interpretation o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::226aa5427a28caf0d0bf28bd3e2f9ad3
https://doi.org/10.1016/j.trecan.2020.01.017
https://doi.org/10.1016/j.trecan.2020.01.017
Autor:
Maryam Mahmoodi, Roger L. Milne, Derrick Theys, Tu Nguyen-Dumont, Fleur Hammet, Melissa C. Southey, Graham G. Giles, James G. Dowty, Amanda Rewse, John L. Hopper, Helen Tsimiklis, Ingrid Winship, Anne-Laure Renault, Jason A. Steen
Publikováno v:
Cancers, Vol 13, Iss 1378, p 1378 (2021)
Cancers
Volume 13
Issue 6
Cancers
Volume 13
Issue 6
551 Background: Case-control studies of breast cancer have consistently shown that pathogenic variants in CHEK2 are associated with about a 3-fold increased risk of breast cancer. Information about the recurrent protein truncating variant CHEK2c.1100
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf9e5a7e4a77f90d360d124ca651c8b8
https://www.mdpi.com/2072-6694/13/6/1378
https://www.mdpi.com/2072-6694/13/6/1378
Autor:
Tú, Nguyen-Dumont, James G, Dowty, Jason A, Steen, Anne-Laure, Renault, Fleur, Hammet, Maryam, Mahmoodi, Derrick, Theys, Amanda, Rewse, Helen, Tsimiklis, Ingrid M, Winship, Graham G, Giles, Roger L, Milne, John L, Hopper, Melissa C, Southey
Publikováno v:
Cancers
Simple Summary It is well established that women who carry pathogenic CHEK2 variants have about a 3-fold increased risk of developing breast cancer. CHEK2 is now commonly included in genetic tests for breast cancer predisposition and increasingly use
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3cf5909d7a3186689dd35ea2f4f0c7aa
https://pubmed.ncbi.nlm.nih.gov/33803639
https://pubmed.ncbi.nlm.nih.gov/33803639
Akademický článek
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