Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Carol Cremin"'
Autor:
Carol Cremin, Michael Kuan‐Ching Lee, Quan Hong, Carolyn Hoeschen, Anna Mackenzie, Katherine Dixon, Mary McCullum, Jennifer Nuk, Steve Kalloger, Joanna Karasinska, Charles Scudamore, Peter T. W. Kim, Fergal Donnellan, Eric C. S. Lam, Howard J. Lim, Cynthia L. Neben, Will Stedden, Alicia Y. Zhou, David F. Schaeffer, Sophie Sun, Daniel J. Renouf, Kasmintan A. Schrader
Publikováno v:
Cancer Medicine, Vol 9, Iss 11, Pp 4004-4013 (2020)
Abstract Background Recent guidelines recommend consideration of germline testing for all newly diagnosed pancreatic ductal adenocarcinoma (PDAC). The primary aim of this study was to determine the burden of hereditary cancer susceptibility in PDAC.
Externí odkaz:
https://doaj.org/article/a38eee8038c145bca6e089a2e23891bb
Autor:
Carol Cremin, Sarah Howard, Lyly Le, Aly Karsan, David F. Schaeffer, Daniel Renouf, Kasmintan A. Schrader
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 16, Iss 1, Pp 1-7 (2018)
Abstract Background Approximately 5% to 10% of pancreatic ductal adenocarcinoma (PDAC) has a hereditary basis. In most of these defined hereditary cancer syndromes, PDAC is not the predominant cancer type. Traditional criteria for publicly funded gen
Externí odkaz:
https://doaj.org/article/9e601d9e22c4400a83d12c581a44f535
Autor:
My Linh Thibodeau, Dean Cheng, Janessa Laskin, Karen Mungall, Howard John Lim, Daniel J. Renouf, Kasmintan A. Schrader, Sophie Sun, Aly Karsan, Pawan Pandoh, Stephen Yip, Eric Chuah, Martin Krzywinski, Caralyn Reisle, Kane Tse, Richard D. Moore, Tina Wong, Katherine Dixon, Stephen Chia, Marco A. Marra, Carol Cremin, Yaoqing Shen, Stephen Pleasance, David F. Schaeffer, Alexandra Fok, Erin Pleasance, Steven J.M. Jones, Andrew J. Mungall, Kieran O'Neill, Sean D. Young
Publikováno v:
Genetics in Medicine
Purpose Structural variants (SVs) may be an underestimated cause of hereditary cancer syndromes given the current limitations of short-read next-generation sequencing. Here we investigated the utility of long-read sequencing in resolving germline SVs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57055b2abed1d767ddd70c9fb740cb28
https://doi.org/10.1038/s41436-020-0880-8
https://doi.org/10.1038/s41436-020-0880-8
Autor:
Peter T Kim, Quan Hong, Lim Howard John, Anna Mackenzie, Carol Cremin, Katherine Dixon, Cynthia L. Neben, Mary McCullum, Sophie Sun, Will Stedden, Kasmintan A. Schrader, Steve E. Kalloger, Eric C S Lam, David F. Schaeffer, Alicia Y. Zhou, Michael K.C. Lee, Joanna M. Karasinska, Carolyn Hoeschen, Jennifer Nuk, D.J. Renouf, Charles H. Scudamore, Fergal Donnellan
Publikováno v:
Cancer Medicine, Vol 9, Iss 11, Pp 4004-4013 (2020)
Cancer Medicine
Cancer Medicine
Background Recent guidelines recommend consideration of germline testing for all newly diagnosed pancreatic ductal adenocarcinoma (PDAC). The primary aim of this study was to determine the burden of hereditary cancer susceptibility in PDAC. A seconda
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eea73c7632f79f522d80f5e3bfcc5039
https://doi.org/10.1002/cam4.2973
https://doi.org/10.1002/cam4.2973
Autor:
Katherine A Blood, Angela C. Bedard, Ruth Turnbull, Tracy Tucker, Tammy Petersen, Jennifer Nuk, Sean D. Young, Sophie Sun, Sze Wing Mung, Carol Cremin, Kristin Binnington, Mary-Jill Asrat, Jennifer Thompson, Nili Heidary, Quan Hong, Allison Mindlin, Gudrun Aubertin, Niki Lovick, Genevieve St-Martin, Cheryl Portigal-Todd, Ian Bosdet, Melanie O'Loughlin, Katie Compton, Jenna Scott, Zoe Lohn, Kasmintan A. Schrader, Katherine Dixon, Stephen Yip, Mary McCullum, Marjorie Bezeau
Publikováno v:
Clinical and Translational Gastroenterology
Introduction Uninformative germline genetic testing presents a challenge to clinical management for patients suspected to have Lynch syndrome, a cancer predisposition syndrome caused by germline variants in the mismatch repair (MMR) genes or EPCAM. M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0dd7b31fb3f505b2622b5854b3be6f5
https://doi.org/10.14309/ctg.0000000000000397
https://doi.org/10.14309/ctg.0000000000000397
Autor:
Jennifer Nuk, Carol Cremin, Kathleen Claes, Wendy McKinnon, Martin Trbusek, Anne Vral, Lenka Foretova, Sean D. Young, Annelot Baert, Ilse Coene, Tom Van Maerken, William D. Foulkes, Marie Jill Asrat, Ana Vega, Marie E. Wood, Andrée MacMillan, Miguel de la Hoya, Bruce Poppe, Kim De Leeneer, Allison Mindlin, Toon Rosseel, Cheryl Portigal-Todd, Marta Santamariña, Kristin Turner, Eva Machackova
Publikováno v:
Human Mutation
For 21 putative BRCA1 and BRCA2 splice site variants, the concordance between mRNA analysis and predictions by in silico programs was evaluated. Aberrant splicing was confirmed for 12 alterations. In silico prediction tools were helpful to determine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0477752b3f34c5744edd52707a5ba357
Autor:
James T. Topham, Daniel J. Renouf, Quan Hong, Kasmintan A. Schrader, Sophie Sun, Mary McCullum, Jennifer Nuk, Joanna M. Karasinska, David F. Schaeffer, Michael Lee, Anna Mackenzie, Carol Cremin, Carolyn Hoeschen, Steve E. Kalloger
Publikováno v:
Journal of Clinical Oncology. 37:1582-1582
1582 Background: Recent literature cites a germline mutation rate of 3.9-15.1% in patients diagnosed with pancreatic ductal adenocarcinoma (PDAC) depending on breadth of genes tested, pre-selection of high-risk history and population substructure. Tr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::32516c41a57b877d4458b6b7f60ed250
https://doi.org/10.1200/jco.2019.37.15_suppl.1582
https://doi.org/10.1200/jco.2019.37.15_suppl.1582
Autor:
Elisa Majounie, Dustin Bleile, Zusheng Zong, Wei Zhang, Eric Y. Zhao, Karen A. Gelmon, Martin R. Jones, Marco A. Marra, Peter Eirew, Sean D. Young, Yaoqing Shen, David G. Huntsman, Steven J.M. Jones, Steve E. Kalloger, Robert A. Holt, Stephen Yip, Janessa Laskin, My Linh Thibodeau, Daniel J. Renouf, Readman Chiu, Aly Karsan, Karen Mungall, Inanc Birol, Caralyn Reisle, Carol Cremin, Greg Taylor, Yussanne Ma, Kasmintan A. Schrader, Carolyn Ch'ng, Joanna M. Karasinska, Howard John Lim, Alexandra Fok, Andrew J. Mungall, David F. Schaeffer, Erin Pleasance, Melika Bonakdar, Hui-Li Wong, Caroline Lohrisch, Richard D. Moore
Publikováno v:
Molecular Case Studies. 5:a003681
We report a case of early-onset pancreatic ductal adenocarcinoma in a patient harboring biallelic MUTYH germline mutations, whose tumor featured somatic mutational signatures consistent with defective MUTYH-mediated base excision repair and the assoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7e103cf788e52c80580ebf7b2b13e849
https://doi.org/10.1101/mcs.a003681
https://doi.org/10.1101/mcs.a003681
Publikováno v:
Canadian Journal of Gastroenterology, Vol 23, Iss 11, Pp 761-767 (2009)
OBJECTIVE: To determine the prevalence of Lynch syndrome mutations in a Canadian hereditary cancer clinic population, and to determine the effectiveness of the program’s referral criteria and testing algorithm.METHODS: A retrospective chart review
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e7df3a91b1583e8e19adce180da0ab4
https://doi.org/10.1155/2009/620518
https://doi.org/10.1155/2009/620518
Autor:
Peter Eirew, Daniel J. Renouf, Robert A. Holt, Janessa Laskin, Richard A. Moore, Stephen Yip, Jacquie Schein, Robyn Roscoe, David F. Schaeffer, Marco A. Marra, Yaoqing Shen, Carol Cremin, Aly Karsan, Alexandra Fok, Steven J.M. Jones, Kasmintan A. Schrader, Martin Jones, Gillian Mitchell, Andrew J. Mungall, Carolyn Chu’ng, Yongjun Zhao, Joanna M. Karasinska, Eric Y. Zhao, Hui-li Wong, Tom Thomson, Howard John Lim, Yussanne Ma, Sean D. Young
Publikováno v:
Cancer Research. 76:5226-5226
Biallelic pathogenic germline variants in the DNA repair glycosylase, MUTYH, cause MUTYH-associated polyposis, characterised by an increased susceptibility to colorectal adenomas and carcinomas secondary to defective base excision repair. We report a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4df86ea5da6c7e3c58f99a8f244fdbff
https://doi.org/10.1158/1538-7445.am2016-5226
https://doi.org/10.1158/1538-7445.am2016-5226