Category: VUS

    • Genetic Testing Challenges in Oncology: Missed Mutations Highlight Somatic, Germline Test Difference.
    • Ray T.
    • Precision Oncology News. 2020 May 26.

    • High-throughput functional evaluation of BRCA2 variants of unknown significance.
    • Ikegami M, Kohsaka S, Ueno T, Momozawa Y, Inoue S, Tamura K, Shimomura A, Hosoya N, Kobayashi H, Tanaka S, Mano H.
    • Nat Commun. 2020 May 22;11(1):2573. doi: 10.1038/s41467-020-16141-8.

    • Clinical Characteristics of Korean Breast Cancer Patients Who Carry Pathogenic Germline Mutations in Both BRCA1 and BRCA2: A Single-Center Experience.
    • Hur JY, Kim JY, Ahn JS, Im YH, Lee J, Kwon M, Park YH.
    • Cancers (Basel). 2020 May 21;12(5):E1306. doi: 10.3390/cancers12051306.

    • LitAlert ~~ GeneLit.com

    • Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
    • Pinheiro M, Sulla Lupinacci FC, Santiago KM, Drigo SA, Marchi FA, Fonseca-Alves CE, da Silva Andrade SC, Aagaard MM, Ramos Basso T, Bisarro dos Reis M, Rios Villacis RA, Roffé M, Maroso Hajj GN, Jurisica I, Kowalski LP, Achatz MI, Rogatto SR.
    • Cancers (Basel). 2020 May 20;12(5):E1289. doi: 10.3390/cancers12051289.

    • Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.
    • Santonocito C, Rizza R, Paris I, De Marchis L, Paolillo C, Tiberi G, Scambia G, Capoluongo E.
    • Cancers (Basel). 2020 May 19;12(5):E1286. doi: 10.3390/cancers12051286.

    • LitAlert ~~ GeneLit.com

    • Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
    • Pinheiro M, Sulla Lupinacci FC, Santiago KM, Drigo SA, Marchi FA, Fonseca-Alves CE, da Silva Andrade SC, Aagaard MM, Ramos Basso T, Bisarro dos Reis M, Rios Villacis RA, Roffé M, Maroso Hajj GN, Jurisica I, Kowalski LP, Achatz MI, Rogatto SR.
    • Cancers (Basel). 2020 May 20;12(5):E1289. doi: 10.3390/cancers12051289.

    • Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.
    • Santonocito C, Rizza R, Paris I, De Marchis L, Paolillo C, Tiberi G, Scambia G, Capoluongo E.
    • Cancers (Basel). 2020 May 19;12(5):E1286. doi: 10.3390/cancers12051286.

    • Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.
    • Santonocito C, Rizza R, Paris I, De Marchis L, Paolillo C, Tiberi G, Scambia G, Capoluongo E.
    • Cancers (Basel). 2020 May 19;12(5):E1286. doi: 10.3390/cancers12051286.

    • Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2.
    • Mesman RLS, Calléja FMGR, de la Hoya M, Devilee P, van Asperen CJ, Vrieling H, Vreeswijk MPG.
    • Genet Med. 2020 May 13. doi: 10.1038/s41436-020-0814-5. Epub ahead of print.

    • Bypass of premature stop codons and generation of functional BRCA2 by exon skipping.
    • Stauffer S, Biswas K, Sharan SK.
    • J Hum Genet. 2020 May 11. doi: 10.1038/s10038-020-0768-0. [Epub ahead of print]

    • Functional evaluation of five BRCA2 unclassified variants identified in a Sri Lankan cohort with inherited cancer syndromes using a mouse embryonic stem cell-based assay.
    • Sirisena N, Biswas K, Sullivan T, Stauffer S, Cleveland L, Southon E, Dissanayake VHW, Sharan SK.
    • Breast Cancer Res. 2020 May 11;22(1):43. doi: 10.1186/s13058-020-01272-z.