• RNA-Seq Analysis Is a Useful Tool in Variant Classification.
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    Letter, Reply:

    Reply to R. Karam et al.

    Original research:

    Functional RNA Studies Are a Useful Tool in Variant Classification but Must Be Used With Caution: A Case Study of One BRCA2 Variant.

    • Functional analysis of BRCA1 RING domain variants: computationally derived structural data can improve upon experimental features for training predictive models.
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    • Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer.
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  • LitAlert ~~ GeneLit.com

    • Discrepancies in Genetic Testing Procedures of BRCA1/2 Mutations: A National Survey Across China.
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    • Mol Diagn Ther. 2020 Sep 24. doi: 10.1007/s40291-020-00489-0. Epub ahead of print.
    • Pathogenicity reclassification of two BRCA1/BRCA2 exonic duplications after identification of genomic breakpoints and tandem orientation.
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    • Comparison of Molecular, Clinicopathological, and Pedigree Differences Between Lynch-Like and Lynch Syndromes.
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    • Front Genet. 2020 Aug 19;11:991. doi: 10.3389/fgene.2020.00991.
  • LitAlert ~~ GeneLit.com

    • Screening of germline mutations in young Rwandan patients with breast cancers.
    • Uyisenga JP, Segers K, Lumaka AZ, Mugenzi P, Fasquelle C, Boujemila B, Josse C, Mutesa L, Bours V.
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    • Implications of Incidental Germline Findings Identified In the Context of Clinical Whole Exome Sequencing for Guiding Cancer Therapy.
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    • Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers.
    • Germani A, Petrucci S, De Marchis L, Libi F, Savio C, Amanti C, Bonifacino A, Campanella B, Capalbo C, Lombardi A, Maggi S, Mattei M, Osti MF, Pellegrini P, Speranza A, Stanzani G, Vitale V, Pizzuti A, Torrisi MR, Piane M.
    • J Clin Med. 2020 Sep 17;9(9):E3003. doi: 10.3390/jcm9093003.
  • LitAlert ~~ GeneLit.com

    • Splicing Enhancers at Intron-Exon Borders Participate in Acceptor Splice Sites Recognition.
    • Kovácová T, Soucek P, Hujová P, Freiberger T, Grodecká L.
    • Int J Mol Sci. 2020 Sep 8;21(18):E6553. doi: 10.3390/ijms21186553.
    • Structure-based functional analysis of BRCA1 RING domain variants: Concordance of computational mutagenesis, experimental assay, and clinical data.
    • Masso M, Bansal A, Bansal A, Henderson A.
    • Biophys Chem. 2020 Aug 1;266:106442. doi: 10.1016/j.bpc.2020.106442. Epub ahead of print.
    • Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.
    • Vargas-Parra G, Del Valle J, Rofes P, Gausachs M, Stradella A, Moreno-Cabrera JM, Velasco A, Tornero E, Menéndez M, Muñoz X, Iglesias S, López-Doriga A, Azuara D, Campos O, Cuesta R, Darder E, de Cid R, González S, Teulé A, Navarro M, Brunet J, Capellá G, Pineda M, Feliubadaló L, Lázaro C.
    • Hum Mutat. 2020 Sep 9. doi: 10.1002/humu.24110. Epub ahead of print.