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.
    • 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.
    • The management of BRCA1 and BRCA2 carriers in Singapore.
    • Chiang J, Ngeow J.
    • Chin Clin Oncol. 2020 Aug 17:cco-20-104. doi: 10.21037/cco-20-104. Epub ahead of print.
    • Optimizing the management of HER2-negative metastatic breast cancer in the era of PARP inhibitors-proceedings from breast cancer expert group meeting.
    • Dawood S, Konstantinova M, Perazzo F, Kim SB, Villarreal-Garza C, Franco SX, Simon SD, El-Nahas T.
    • Chin Clin Oncol. 2020 Aug 17:cco-20-138. doi: 10.21037/cco-20-138. 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.
    • Zielgerichtete Therapie beim metastasierten Mammakarzinom – welche molekularen Tests sind notwendig? [Targeted Therapy in Metastatic Breast Cancer-Which Molecular Tests Are Necessary?].
    • Schmidt M.
    • J Gynakol Endokrinol. 2020 Jun 2:1-3. German. doi: 10.1007/s41974-020-00141-z. Epub ahead of print.