Mutation of a mutL homolog in hereditary colon cancer - PubMed (original) (raw)

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. Nat Genet. 2024 Oct 29. doi: 10.1038/s41588-024-01966-6. Online ahead of print. Nat Genet. 2024. PMID: 39472694

Mismatch repair deficiency and microsatellite instability in urothelial carcinoma: a systematic review and meta-analysis.

Chandran EBA, Iannantuono GM, Atiq SO, Akbulut D, Sinaii N, Simon NI, Banday AR, Boudjadi S, Gurram S, Nassar AH, Rosenberg JE, Butera G, Teo MY, Sonpavde G, Coleman JA, Apolo AB. Chandran EBA, et al. BMJ Oncol. 2024 Jan;3(1):e000335. doi: 10.1136/bmjonc-2024-000335. Epub 2024 Apr 30. BMJ Oncol. 2024. PMID: 39086924 Free PMC article.