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Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome.
Farrell MP, Hughes DJ, Berry IR, Gallagher DJ, Glogowski EA, Payne SJ, Kennedy MJ, Clarke RM, White SA, Muldoon CB, Macdonald F, Rehal P, Crompton D, Roring S, Duke ST, McDevitt T, Barton DE, Hodgson SV, Green AJ, Daly PA. Farrell MP, et al. Fam Cancer. 2012 Sep;11(3):509-18. doi: 10.1007/s10689-012-9544-4. Fam Cancer. 2012. PMID: 22773173 Review.
A pilot study investigating feasibility of mainstreaming germline BRCA1 and BRCA2 testing in high-risk patients with breast and/or ovarian cancer in three tertiary Cancer Centres in Ireland.
McVeigh TP, Sweeney KJ, Brennan DJ, McVeigh UM, Ward S, Strydom A, Seal S, Astbury K, Donnellan P, Higgins J, Keane M, Kerin MJ, Malone C, McGough P, McLaughlin R, O'Leary M, Rushe M, Barry MK, MacGregor G, Sugrue M, Yousif A, Al-Azawi D, Berkeley E, Boyle TJ, Connolly EM, Nolan C, Richardson E, Giffney C, Doyle SB, Broderick S, Boyd W, McVey R, Walsh T, Farrell M, Gallagher DJ, Rahman N, George AJ. McVeigh TP, et al. Among authors: farrell m. Fam Cancer. 2023 Apr;22(2):135-149. doi: 10.1007/s10689-022-00313-0. Epub 2022 Aug 27. Fam Cancer. 2023. PMID: 36029389
MUTYH-Associated Polyposis: The Irish Experience>
McVeigh TP, Duff M, Carroll C, O'Shea R, Bradley L, Farrell M, Gallagher DJ, Clabby C, Green AJ. McVeigh TP, et al. Among authors: farrell m. Ir Med J. 2016 Dec 12;109(10):485. Ir Med J. 2016. PMID: 28644590
1,912 results