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Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations.
Garrett A, Durkie M, Callaway A, Burghel GJ, Robinson R, Drummond J, Torr B, Cubuk C, Berry IR, Wallace AJ, Ellard S, Eccles DM, Tischkowitz M, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. J Med Genet. 2021 May;58(5):297-304. doi: 10.1136/jmedgenet-2020-107248. Epub 2020 Nov 18. J Med Genet. 2021. PMID: 33208383 Free PMC article.
A common polymorphism in the 5' UTR of ERCC5 creates an upstream ORF that confers resistance to platinum-based chemotherapy.
Somers J, Wilson LA, Kilday JP, Horvilleur E, Cannell IG, Pöyry TA, Cobbold LC, Kondrashov A, Knight JR, Puget S, Grill J, Grundy RG, Bushell M, Willis AE. Somers J, et al. Among authors: cobbold lc. Genes Dev. 2015 Sep 15;29(18):1891-6. doi: 10.1101/gad.261867.115. Epub 2015 Sep 3. Genes Dev. 2015. PMID: 26338418 Free PMC article.
12 results