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Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.
Li J, Woods SL, Healey S, Beesley J, Chen X, Lee JS, Sivakumaran H, Wayte N, Nones K, Waterfall JJ, Pearson J, Patch AM, Senz J, Ferreira MA, Kaurah P, Mackenzie R, Heravi-Moussavi A, Hansford S, Lannagan TRM, Spurdle AB, Simpson PT, da Silva L, Lakhani SR, Clouston AD, Bettington M, Grimpen F, Busuttil RA, Di Costanzo N, Boussioutas A, Jeanjean M, Chong G, Fabre A, Olschwang S, Faulkner GJ, Bellos E, Coin L, Rioux K, Bathe OF, Wen X, Martin HC, Neklason DW, Davis SR, Walker RL, Calzone KA, Avital I, Heller T, Koh C, Pineda M, Rudloff U, Quezado M, Pichurin PN, Hulick PJ, Weissman SM, Newlin A, Rubinstein WS, Sampson JE, Hamman K, Goldgar D, Poplawski N, Phillips K, Schofield L, Armstrong J, Kiraly-Borri C, Suthers GK, Huntsman DG, Foulkes WD, Carneiro F, Lindor NM, Edwards SL, French JD, Waddell N, Meltzer PS, Worthley DL, Schrader KA, Chenevix-Trench G. Li J, et al. Among authors: poplawski n. Am J Hum Genet. 2016 May 5;98(5):830-842. doi: 10.1016/j.ajhg.2016.03.001. Epub 2016 Apr 14. Am J Hum Genet. 2016. PMID: 27087319 Free PMC article.
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M. Thompson BA, et al. Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362816 Free PMC article.
Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.
Lewinsohn M, Brown AL, Weinel LM, Phung C, Rafidi G, Lee MK, Schreiber AW, Feng J, Babic M, Chong CE, Lee Y, Yong A, Suthers GK, Poplawski N, Altree M, Phillips K, Jaensch L, Fine M, D'Andrea RJ, Lewis ID, Medeiros BC, Pollyea DA, King MC, Walsh T, Keel S, Shimamura A, Godley LA, Hahn CN, Churpek JE, Scott HS. Lewinsohn M, et al. Among authors: poplawski n. Blood. 2016 Feb 25;127(8):1017-23. doi: 10.1182/blood-2015-10-676098. Epub 2015 Dec 28. Blood. 2016. PMID: 26712909 Free PMC article.
Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.
Rosty C, Clendenning M, Walsh MD, Eriksen SV, Southey MC, Winship IM, Macrae FA, Boussioutas A, Poplawski NK, Parry S, Arnold J, Young JP, Casey G, Haile RW, Gallinger S, Le Marchand L, Newcomb PA, Potter JD, DeRycke M, Lindor NM, Thibodeau SN, Baron JA, Win AK, Hopper JL, Jenkins MA, Buchanan DD; Colon Cancer Family Registry Cohort. Rosty C, et al. Among authors: poplawski nk. BMJ Open. 2016 Feb 19;6(2):e010293. doi: 10.1136/bmjopen-2015-010293. BMJ Open. 2016. PMID: 26895986 Free PMC article.
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
de la Hoya M, Soukarieh O, López-Perolio I, Vega A, Walker LC, van Ierland Y, Baralle D, Santamariña M, Lattimore V, Wijnen J, Whiley P, Blanco A, Raponi M, Hauke J, Wappenschmidt B, Becker A, Hansen TV, Behar R, Investigators K, Niederacher D, Arnold N, Dworniczak B, Steinemann D, Faust U, Rubinstein W, Hulick PJ, Houdayer C, Caputo SM, Castera L, Pesaran T, Chao E, Brewer C, Southey MC, van Asperen CJ, Singer CF, Sullivan J, Poplawski N, Mai P, Peto J, Johnson N, Burwinkel B, Surowy H, Bojesen SE, Flyger H, Lindblom A, Margolin S, Chang-Claude J, Rudolph A, Radice P, Galastri L, Olson JE, Hallberg E, Giles GG, Milne RL, Andrulis IL, Glendon G, Hall P, Czene K, Blows F, Shah M, Wang Q, Dennis J, Michailidou K, McGuffog L, Bolla MK, Antoniou AC, Easton DF, Couch FJ, Tavtigian S, Vreeswijk MP, Parsons M, Meeks HD, Martins A, Goldgar DE, Spurdle AB. de la Hoya M, et al. Among authors: poplawski n. Hum Mol Genet. 2016 Jun 1;25(11):2256-2268. doi: 10.1093/hmg/ddw094. Epub 2016 Mar 23. Hum Mol Genet. 2016. PMID: 27008870 Free PMC article.
Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.
Tudini E, Davidson AL, Dressel U, Andrews L, Antill Y, Crook A, Field M, Gattas M, Harris R, Kirk J, Pachter N, Salmon L, Susman R, Townshend S, Trainer AH, Tucker KM, Mitchell G, James PA, Ward RL, Mar Fan H, Poplawski NK, Spurdle AB. Tudini E, et al. Among authors: poplawski nk. J Med Genet. 2021 Dec;58(12):853-858. doi: 10.1136/jmedgenet-2020-107140. Epub 2020 Nov 9. J Med Genet. 2021. PMID: 33168572
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.
Davidson AL, Dressel U, Norris S, Canson DM, Glubb DM, Fortuno C, Hollway GE, Parsons MT, Vidgen ME, Holmes O, Koufariotis LT, Lakis V, Leonard C, Wood S, Xu Q, McCart Reed AE, Pickett HA, Al-Shinnag MK, Austin RL, Burke J, Cops EJ, Nichols CB, Goodwin A, Harris MT, Higgins MJ, Ip EL, Kiraly-Borri C, Lau C, Mansour JL, Millward MW, Monnik MJ, Pachter NS, Ragunathan A, Susman RD, Townshend SL, Trainer AH, Troth SL, Tucker KM, Wallis MJ, Walsh M, Williams RA, Winship IM, Newell F, Tudini E, Pearson JV, Poplawski NK, Mar Fan HG, James PA, Spurdle AB, Waddell N, Ward RL. Davidson AL, et al. Among authors: poplawski nk. Genome Med. 2023 Sep 19;15(1):74. doi: 10.1186/s13073-023-01223-1. Genome Med. 2023. PMID: 37723522 Free PMC article.
Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum.
Fortuno C, Feng BJ, Carroll C, Innella G, Kohlmann W, Lázaro C, Brunet J, Feliubadaló L, Iglesias S, Menéndez M, Teulé A, Ballinger ML, Thomas DM, Campbell A, Field M, Harris M, Kirk J, Pachter N, Poplawski N, Susman R, Tucker K, Wallis M, Williams R, Cops E, Goldgar D; kConFab Investigators; James PA, Spurdle AB. Fortuno C, et al. Among authors: poplawski n. JCO Precis Oncol. 2024 Feb;8:e2300453. doi: 10.1200/PO.23.00453. JCO Precis Oncol. 2024. PMID: 38412388
A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia.
Cheah JJC, Brown AL, Schreiber AW, Feng J, Babic M, Moore S, Young CC, Fine M, Phillips K, Guandalini M, Wilson P, Poplawski N, Hahn CN, Scott HS. Cheah JJC, et al. Among authors: poplawski n. Haematologica. 2019 Jul;104(7):e318-e321. doi: 10.3324/haematol.2018.207316. Epub 2019 Mar 28. Haematologica. 2019. PMID: 30923096 Free PMC article. No abstract available.
75 results