LitAlert ~~ GeneLit.com

    • Detection of Germline Mutations in a Cohort of 139 Patients with Bilateral Breast Cancer by Multi-Gene Panel Testing: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2.
    • Fanale D, Incorvaia L, Filorizzo C, Bono M, Fiorino A, Calò V, Brando C, Corsini LR, Barraco N, Badalamenti G, Russo A, Bazan V.
    • Cancers (Basel). 2020 Aug 25;12(9):E2415. doi: 10.3390/cancers12092415.
    • Management of high, moderate, and low penetrance ovarian cancer susceptibility mutations: an assessment of current risk reduction practices.
    • Watson CH, Soo L, Davidson BA, Havrilesky LJ, Lee PS, McNally LJ, Previs RA, Secord AA, Berchuck A, Kauff ND.
    • Int J Gynecol Cancer. 2020 Aug 23:ijgc-2020-001536. doi: 10.1136/ijgc-2020-001536. Epub ahead of print.
    • Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.
    • Fahed AC, Wang M, Homburger JR, Patel AP, Bick AG, Neben CL, Lai C, Brockman D, Philippakis A, Ellinor PT, Cassa CA, Lebo M, Ng K, Lander ES, Zhou AY, Kathiresan S, Khera AV.
    • Nat Commun. 2020 Aug 20;11(1):3635. doi: 10.1038/s41467-020-17374-3.

    Research news: Polygenic Variation Affects Disease Risk From Monogenic Variants, Study Finds. (GenomeWeb)

    • A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome.
    • Gao F, Pan X, Dodd-Eaton EB, Recio CV, Montierth MD, Bojadzieva J, Mai PL, Zelley K, Johnson VE, Braun D, Nichols KE, Garber JE, Savage SA, Strong LC, Wang W.
    • Genome Res. 2020 Aug 18. doi: 10.1101/gr.249599.119. Epub ahead of print.
    • Can population BRCA screening be applied in non-Ashkenazi Jewish populations? Experience in Macau population.
    • Qin Z, Kuok CN, Dong H, Jiang L, Zhang L, Guo M, Leong HK, Wang L, Meng G, Wang SM.
    • J Med Genet. 2020 Aug 17:jmedgenet-2020-107181. doi: 10.1136/jmedgenet-2020-107181. Epub ahead of print.