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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: moller p. 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.
Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated "Big Bang" pathway to CRC in three of the four Lynch syndromes.
Møller P, Haupt S, Ahadova A, Kloor M, Sampson JR, Sunde L, Seppälä T, Burn J, Bernstein I, Capella G, Evans DG, Lindblom A, Winship I, Macrae F, Katz L, Laish I, Vainer E, Monahan K, Half E, Horisberger K, da Silva LA, Heuveline V, Therkildsen C, Lautrup C, Klarskov LL, Cavestro GM, Möslein G, Hovig E, Dominguez-Valentin M. Møller P, et al. Hered Cancer Clin Pract. 2024 May 13;22(1):6. doi: 10.1186/s13053-024-00279-3. Hered Cancer Clin Pract. 2024. PMID: 38741120 Free PMC article.
Gene-based burden tests of rare germline variants identify six cancer susceptibility genes.
Ivarsdottir EV, Gudmundsson J, Tragante V, Sveinbjornsson G, Kristmundsdottir S, Stacey SN, Halldorsson GH, Magnusson MI, Oddsson A, Walters GB, Sigurdsson A, Saevarsdottir S, Beyter D, Thorleifsson G, Halldorsson BV, Melsted P, Stefansson H, Jonsdottir I, Sørensen E, Pedersen OB, Erikstrup C, Bøgsted M, Pøhl M, Røder A, Stroomberg HV, Gögenur I, Hillingsø J, Bojesen SE, Lassen U, Høgdall E, Ullum H, Brunak S, Ostrowski SR; DBDS Genomic Consortium; Sonderby IE, Frei O, Djurovic S, Havdahl A, Moller P, Dominguez-Valentin M, Haavik J, Andreassen OA, Hovig E, Agnarsson BA, Hilmarsson R, Johannsson OT, Valdimarsson T, Jonsson S, Moller PH, Olafsson JH, Sigurgeirsson B, Jonasson JG, Tryggvason G, Holm H, Sulem P, Rafnar T, Gudbjartsson DF, Stefansson K. Ivarsdottir EV, et al. Among authors: moller ph, moller p. Nat Genet. 2024 Nov;56(11):2422-2433. doi: 10.1038/s41588-024-01966-6. Epub 2024 Oct 29. Nat Genet. 2024. PMID: 39472694
The incidence of pancreatic cancer in women with a BRCA1 or BRCA2 mutation.
Katona BW, Lubinski J, Pal T, Huzarski T, Foulkes WD, Moller P, Eisen A, Randall Armel S, Neuhausen SL, Raj R, Aeilts A, Singer CF, Bordeleau L, Karlan B, Olopade O, Tung N, Zakalik D, Kotsopoulos J, Fruscio R, Eng C, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group. Katona BW, et al. Among authors: moller p. Cancer. 2024 Nov 29. doi: 10.1002/cncr.35666. Online ahead of print. Cancer. 2024. PMID: 39611336
1,975 results