Incidental findings from cancer next generation sequencing panels

Autor: Nika Maani, Karen Panabaker, Jeanna M. McCuaig, Kathleen Buckley, Kara Semotiuk, Kirsten M. Farncombe, Peter Ainsworth, Seema Panchal, Bekim Sadikovic, Susan Randall Armel, Hanxin Lin, Raymond H. Kim

Publikováno v: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-7 (2021)

Abstract Next-generation sequencing (NGS) technologies have facilitated multi-gene panel (MGP) testing to detect germline DNA variants in hereditary cancer patients. This sensitive technique can uncover unexpected, non-germline incidental findings in

Externí odkaz: https://doaj.org/article/51d40d0aa8aa4187b039858a26fe2992

Incidental findings from cancer next generation sequencing panels

Autor: Karen Panabaker, Nika Maani, Jeanna McCuaig, Peter Ainsworth, Hanxin Lin, Kathleen Buckley, Kara Semotiuk, Seema Panchal, Bekim Sadikovic, Raymond H. Kim, Susan Armel, Kirsten M. Farncombe

Publikováno v: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-7 (2021)
Paediatrics Publications
NPJ Genomic Medicine

Next-generation sequencing (NGS) technologies have facilitated multi-gene panel (MGP) testing to detect germline DNA variants in hereditary cancer patients. This sensitive technique can uncover unexpected, non-germline incidental findings indicative

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd6dcdecc8ee7aba550e59dd9839b33c
https://doi.org/10.1038/s41525-021-00224-6

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

Autor: Matthew S. Lebo, Kathleen-Rose Zakoor, Kathy Chun, Marsha D. Speevak, John S. Waye, Elizabeth McCready, Jillian S. Parboosingh, Ryan E. Lamont, Harriet Feilotter, Ian Bosdet, Tracy Tucker, Sean Young, Aly Karsan, George S. Charames, Ronald Agatep, Elizabeth L. Spriggs, Caitlin Chisholm, Nasim Vasli, Hussein Daoud, Olga Jarinova, Robert Tomaszewski, Stacey Hume, Sherryl Taylor, Mohammad R. Akbari, Jordan Lerner-Ellis, Ron Agatep, Peter Ainsworth, Melyssa Aronson, Raveen Basran, Andre Blavier, Andrea Blumenthal, Kym Boycott, Michael Brudno, Kathleen Buckley, Jodi Campbell, Philippe M. Campeau, Melanie Care, Nancy Carson, Ronald Carter, George Charames, David Chitayat, George Chong, Edmond Chouinard, Kenneth J. Craddock, Rod Docking, Andrea Eisen, Hanna Faghfoury, Sandra Farrell, Bridget Fernandez, Marc Fiume, Cynthia Forster-Gibson, Jan Friedman, William Foulkes, Peter Goodhand, Jessica Gu, Robert Hegele, Spring Holter, Sheri Horsburgh, Lauren Hughes, Franny Jewett, Anne Junker, Sam Khalouei, Joan Knoll, Elena Kolomeitz, Bartha Knoppers, Ryan Lamont, Matthew Lebo, Georges Maire, Christian Marshall, Grant Mitchell, Michael J Moorhouse, Chantal Morel, Tanya Nelson, Abdul Noor, Brian O'Connor, Darren O'Rielly, Francis Ouellette, Jillian Parboosingh, Hilary Racher, Peter Ray, Heidi Rehm, Christie Riddell, Jean-Baptiste Riviere, David S. Rosenblatt, Guy Rouleau, Andrea Ruchon, Peter Sabatini, Bekim Sadikovic, Kara Semotiuk, Stephen W. Scherer, Cheryl Shuman, Josh Silver, Katherine Siminovitch, Lesley Solomon-Izsak, Jean-Francois Soucy, Marsha Speevak, James Stavropoulos, Lincoln Stein, Rhonda Tannenbaum, Deborah Terespolsky, Richard F. Wintle, Beatrix Wong, Nora Wong, Marina Wang, Nicholas Watkins, Shana White, Michael O. Woods, Philip Wyatt

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 20(3)

PurposeThe purpose of this study was to develop a national program for Canadian diagnostic laboratories to compare DNA-variant interpretations and resolve discordant-variant classifications using the BRCA1 and BRCA2 genes as a case study.MethodsBRCA1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b3af47c756c82663a6bb46ec7bc8250
https://pubmed.ncbi.nlm.nih.gov/28726806

Colorectal cancer in a 9-year-old due to combined EPCAM and MSH2 germline mutations: case report of a unique genotype and immunophenotype

Autor: David K. Driman, Peter Ainsworth, Hector H Li-Chang, Nancy L Scanlan, Helen Levin, Kathleen Buckley, A Elizabeth Cairney, Victoria Mok Siu

Publikováno v: Journal of Clinical Pathology. 66:631-633

Lynch syndrome (LS) typically arises in the setting of a heterozygous germline mutation in one of the DNA mismatch repair (MMR) genes ( MLH1 , MSH2 , MSH6 , PMS2 ). Rarely, LS can also arise due to germline deletion of the 3′ region of the epitheli

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::281bf35f8e61f5487e6c2889e980d83e
https://doi.org/10.1136/jclinpath-2012-201376

[Untitled]

Autor: Kathleen Buckley, Janet L. Chapin

Publikováno v: Maternal and Child Health Journal. 3:173-176

Fetal and Infant Mortality Review (FIMR) has been a dynamic process from its inception in the 1980s. Essentially, it is a local, community-driven process that has grown and been refined as more communities adopt the methodology. The National Fetal an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d1e4c1bc317cc3ae35bcd5dbc0ce101c
https://doi.org/10.1023/a:1022302107233