LitAlert ~~ GeneLit.com

    • Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
    • Bottillo I, Savino E, Majore S, Mulargia C, Valiante M, Ferraris A, Rossi V, Svegliati F, Ciccone MP, Brusco F, Grammatico B, Di Giacomo G, Bargiacchi S, D'Angelantonio D, Grammatico P.
    • Eur J Hum Genet. 2022 Dec 19. doi: 10.1038/s41431-022-01270-z. Epub ahead of print.
    • Case report

    • Germline-focused analysis of tumour-detected variants in 49,264 cancer patients: ESMO Precision Medicine Working Group recommendations.
    • Kuzbari Z, Bandlamudi C, Loveday C, Garrett A, Mehine M, George A, Hanson H, Snape K, Kulkarni A, Allen S, Jezdic S, Ferrandino R, Westphalen CB, Castro E, Rodon J, Mateo J, Burghel GJ, Berger MF, Mandelker D, Turnbull C.
    • Ann Oncol. 2022 Dec 15:S0923-7534(22)04771-8. doi: 10.1016/j.annonc.2022.12.003. Epub ahead of print.

    • Germline BRCA2 variants in advanced pancreatic acinar cell carcinoma: A case report and review of literature.
    • Lee CL, Holter S, Borgida A, Dodd A, Ramotar S, Grant R, Wasson K, Elimova E, Jang RW, Moore M, Kim TK, Khalili K, Moulton CA, Gallinger S, O'Kane GM, Knox JJ.
    • World J Gastroenterol. 2022 Dec 7;28(45):6421-6432. doi: 10.3748/wjg.v28.i45.6421.