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Page 1
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Yin X, Richardson M, Laner A, Shi X, Ognedal E, Vasta V, Hansen TVO, Pineda M, Ritter D, de Dunnen J, Hassanin E, Lin WL, Borras E, Krahn K, Nordling M, Martins A, Mahmood K, Nadeau E, Beshay V, Tops C, Genuardi M, Pesaran T, Frayling IM, Capellá G, Latchford A, Tavtigian SV, Maj C, Plon SE, Greenblatt MS, Macrae FA, Spier I, Aretz S. Yin X, et al. Among authors: latchford a. Am J Hum Genet. 2024 Nov 7;111(11):2427-2443. doi: 10.1016/j.ajhg.2024.09.002. Epub 2024 Oct 1. Am J Hum Genet. 2024. PMID: 39357517 Free PMC article.
Risk of cancer and reoperation after ileorectal anastomosis and ileal pouch-anal anastomosis in familial adenomatous polyposis.
Bouchiba H, Aelvoet AS, Pellisé M, Bastiaansen BAJ, van Leerdam ME, Langers AMJ, Balaguer F, Miedema TN, Anele CC, Daca-Alvarez M, Bossuyt PMM, Ricciardiello L, Jover R, Hompes R, Karstensen JG, Latchford A, Dekker E; European FAP Consortium. Bouchiba H, et al. Among authors: latchford a. Am J Gastroenterol. 2024 Dec 31. doi: 10.14309/ajg.0000000000003273. Online ahead of print. Am J Gastroenterol. 2024. PMID: 39787348
Development of Desmoid Tumors After Ileorectal Anastomosis Versus Ileal Pouch-Anal Anastomosis in Familial Adenomatous Polyposis.
Aelvoet AS, Pellisé M, Miedema TN, Daca-Alvarez M, Bastiaansen BAJ, van Leerdam ME, Jover R, Balaguer F, Kaminski MF, Buttitta F, Ricciardiello L, Jespersen N, Karstensen JG, Bossuyt PMM, Latchford A, Hompes R, Dekker E; European FAP Consortium. Aelvoet AS, et al. Among authors: latchford a. Clin Gastroenterol Hepatol. 2024 Nov;22(11):2319-2326. doi: 10.1016/j.cgh.2024.06.018. Epub 2024 Jul 4. Clin Gastroenterol Hepatol. 2024. PMID: 38969075 Free article.
Phenotype correlations with pathogenic DNA variants in the MUTYH gene.
Thet M, Plazzer JP, Capella G, Latchford A, Nadeau EA, Greenblatt MS, Macrae F. Thet M, et al. Among authors: latchford a. medRxiv [Preprint]. 2024 May 15:2024.05.15.24307143. doi: 10.1101/2024.05.15.24307143. medRxiv. 2024. PMID: 38798681 Free PMC article. Preprint.
Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases.
Yin X, Richardson M, Laner A, Shi X, Ognedal E, Vasta V, Hansen TVO, Pineda M, Ritter D, den Dunnen JT, Hassanin E, Lyman Lin W, Borras E, Krahn K, Nordling M, Martins A, Mahmood K, Nadeau EAW, Beshay V, Tops C, Genuardi M, Pesaran T, Frayling IM, Capellá G, Latchford A, Tavtigian SV, Maj C, Plon SE, Greenblatt MS, Macrae FA, Spier I, Aretz S. Yin X, et al. Among authors: latchford a. medRxiv [Preprint]. 2024 May 4:2024.05.03.24306761. doi: 10.1101/2024.05.03.24306761. medRxiv. 2024. PMID: 38746299 Free PMC article. Preprint.
Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision.
Zaffaroni G, Mannucci A, Koskenvuo L, de Lacy B, Maffioli A, Bisseling T, Half E, Cavestro GM, Valle L, Ryan N, Aretz S, Brown K, Buttitta F, Carneiro F, Claber O, Blanco-Colino R, Collard M, Crosbie E, Cunha M, Doulias T, Fleming C, Heinrich H, Hüneburg R, Metras J, Nagtegaal I, Negoi I, Nielsen M, Pellino G, Ricciardiello L, Sagir A, Sánchez-Guillén L, Seppälä TT, Siersema P, Striebeck B, Sampson JR, Latchford A, Parc Y, Burn J, Möslein G. Zaffaroni G, et al. Among authors: latchford a. Br J Surg. 2024 May 3;111(5):znae070. doi: 10.1093/bjs/znae070. Br J Surg. 2024. PMID: 38722804 Free PMC article.
Outcomes following duodenectomy in patients with familial adenomatous polyposis.
Aelvoet AS, Martin I, Cockburn J, Cabalit C, Cuthill V, Spalding D, Busch O, Bastiaansen BAJ, Clark SK, Dekker E, Latchford A. Aelvoet AS, et al. Among authors: latchford a. Endosc Int Open. 2024 May 3;12(5):E659-E665. doi: 10.1055/a-2298-0038. eCollection 2024 May. Endosc Int Open. 2024. PMID: 38707599 Free PMC article.
93 results