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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. Among authors: frayling im. 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.
Challenges in developing and implementing international best practice guidance for intermediate-risk variants in cancer susceptibility genes: APC c.3920T>A p.(Ile1307Lys) as an exemplar.
McVeigh TP, Lalloo F, Frayling IM, Latchford A, Snape K, Durkie M, Monahan KJ, Hanson H. McVeigh TP, et al. Among authors: frayling im. J Med Genet. 2024 May 2:jmg-2024-109900. doi: 10.1136/jmg-2024-109900. Online ahead of print. J Med Genet. 2024. PMID: 38697781 Free article. No abstract available.
Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway.
McRonald FE, Pethick J, Santaniello F, Shand B, Tyson A, Tulloch O, Goel S, Lüchtenborg M, Borthwick GM, Turnbull C, Shaw AC, Monahan KJ, Frayling IM, Hardy S, Burn J. McRonald FE, et al. Among authors: frayling im. Eur J Hum Genet. 2024 May;32(5):529-538. doi: 10.1038/s41431-024-01550-w. Epub 2024 Feb 15. Eur J Hum Genet. 2024. PMID: 38355963 Free PMC article.
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Spier I, Yin X, Richardson M, Pineda M, Laner A, Ritter D, Boyle J, Mur P, Hansen TVO, Shi X, Mahmood K, Plazzer JP, Ognedal E, Nordling M, Farrington SM, Yamamoto G, Baert-Desurmont S, Martins A, Borras E, Tops C, Webb E, Beshay V, Genuardi M, Pesaran T, Capellá G, Tavtigian SV, Latchford A, Frayling IM, Plon SE, Greenblatt M, Macrae FA, Aretz S; InSiGHT-ClinGen Hereditary Colon Cancer/Polyposis Variant Curation Expert Panel. Spier I, et al. Among authors: frayling im. Genet Med. 2024 Feb;26(2):100992. doi: 10.1016/j.gim.2023.100992. Epub 2023 Oct 4. Genet Med. 2024. PMID: 37800450 Free article.
The predicted effect and cost-effectiveness of tailoring colonoscopic surveillance according to mismatch repair gene in patients with Lynch syndrome.
Kang YJ, Caruana M, McLoughlin K, Killen J, Simms K, Taylor N, Frayling IM, Coupé VMH, Boussioutas A, Trainer AH, Ward RL, Macrae F, Canfell K. Kang YJ, et al. Among authors: frayling im. Genet Med. 2022 Sep;24(9):1831-1846. doi: 10.1016/j.gim.2022.05.016. Epub 2022 Jul 9. Genet Med. 2022. PMID: 35809086 Free article.
The proportion of endometrial tumours associated with Lynch syndrome (PETALS): A prospective cross-sectional study.
Ryan NAJ, McMahon R, Tobi S, Snowsill T, Esquibel S, Wallace AJ, Bunstone S, Bowers N, Mosneag IE, Kitson SJ, O'Flynn H, Ramchander NC, Sivalingam VN, Frayling IM, Bolton J, McVey RJ, Evans DG, Crosbie EJ. Ryan NAJ, et al. Among authors: frayling im. PLoS Med. 2020 Sep 17;17(9):e1003263. doi: 10.1371/journal.pmed.1003263. eCollection 2020 Sep. PLoS Med. 2020. PMID: 32941469 Free PMC article.
From doctors as patients: a manifesto for tackling persisting symptoms of covid-19.
Alwan NA, Attree E, Blair JM, Bogaert D, Bowen MA, Boyle J, Bradman M, Briggs TA, Burns S, Campion D, Cushing K, Delaney B, Dixon C, Dolman GE, Dynan C, Frayling IM, Freeman-Romilly N, Hammond I, Judge J, Järte L, Lokugamage A, MacDermott N, MacKinnon M, Majithia V, Northridge T, Powell L, Rayner C, Read G, Sahu E, Shand C, Small A, Strachan C, Suett J, Sykes B, Taylor S, Thomas K, Thomson M, Wiltshire A, Woods V. Alwan NA, et al. Among authors: frayling im. BMJ. 2020 Sep 15;370:m3565. doi: 10.1136/bmj.m3565. BMJ. 2020. PMID: 32933949 No abstract available.
Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
Dominguez-Valentin M, Sampson JR, Seppälä TT, Ten Broeke SW, Plazzer JP, Nakken S, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Thomas H, Evans DG, Burn J, Greenblatt M, Hovig E, de Vos Tot Nederveen Cappel WH, Sijmons RH, Bertario L, Tibiletti MG, Cavestro GM, Lindblom A, Della Valle A, Lopez-Köstner F, Gluck N, Katz LH, Heinimann K, Vaccaro CA, Büttner R, Görgens H, Holinski-Feder E, Morak M, Holzapfel S, Hüneburg R, Knebel Doeberitz MV, Loeffler M, Rahner N, Schackert HK, Steinke-Lange V, Schmiegel W, Vangala D, Pylvänäinen K, Renkonen-Sinisalo L, Hopper JL, Win AK, Haile RW, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Wadt K, Therkildsen C, Okkels H, Ketabi Z, Moreira L, Sánchez A, Serra-Burriel M, Pineda M, Navarro M, Blanco I, Green K, Lalloo F, Crosbie EJ, Hill J, Denton OG, Frayling IM, Rødland EA, Vasen H, Mints M, Neffa F, Esperon P, Alvarez K, Kariv R, Rosner G, Pinero TA, Gonzalez ML, Kalfayan P, Tjandra D, Winship IM, Macrae F, Möslein G, Mecklin JP, Nielsen M, Møller P. Dominguez-Valentin M, et al. Among authors: frayling im. Genet Med. 2020 Sep;22(9):1569. doi: 10.1038/s41436-020-0892-4. Genet Med. 2020. PMID: 32690931 Free PMC article.
Pathways to a cancer-free future: a protocol for modelled evaluations to minimise the future burden of colorectal cancer in Australia.
Feletto E, Lew JB, Worthington J, He E, Caruana M, Butler K, Hui H, Taylor N, Banks E, Barclay K, Broun K, Butt A, Carter R, Cuff J, Dessaix A, Ee H, Emery J, Frayling IM, Grogan P, Holden C, Horn C, Jenkins MA, Kench JG, Laaksonen MA, Leggett B, Mitchell G, Morris S, Parkinson B, St John DJ, Taoube L, Tucker K, Wakefield MA, Ward RL, Win AK, Worthley DL, Armstrong BK, Macrae FA, Canfell K. Feletto E, et al. Among authors: frayling im. BMJ Open. 2020 Jun 21;10(6):e036475. doi: 10.1136/bmjopen-2019-036475. BMJ Open. 2020. PMID: 32565470 Free PMC article.
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