Category: VUS

• Genome-Wide Gene Expression Analyses of BRCA1- and BRCA2-Associated Breast and Ovarian Tumours.
• Wiggins GAR, Walker LC, Pearson JF.
• Cancers (Basel). 2020 Oct 16;12(10):E3015. doi: 10.3390/cancers12103015.

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• Review
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• RNA-Seq Analysis Is a Useful Tool in Variant Classification.
• Karam R, LaDuca H, Richardson ME, Pesaran T, Chao E.
• JCO Precis Oncol. 2020;4:1226. doi: 10.1200/PO.20.00310. Epub 2020 Oct 9.

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• Letter, Commentary
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Related:

Letter, Reply:

Reply to R. Karam et al.

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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.

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• Functional analysis of BRCA1 RING domain variants: computationally derived structural data can improve upon experimental features for training predictive models.
• Masso M.
• Integr Biol (Camb). 2020 Sep 28:zyaa019. doi: 10.1093/intbio/zyaa019. Epub ahead of print.

• PMID: 32984879
• PubMed abstract
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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.
• Bandeira G, Rocha K, Lazar M, Ezquina S, Yamamoto G, Varela M, Takahashi V, Aguena M, Gollop T, Zatz M, Passos-Bueno MR, Krepischi A, Okamoto OK.
• Breast Cancer. 2020 Sep 28. doi: 10.1007/s12282-020-01165-1. Epub ahead of print.

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• New surveillance guidelines for Li-Fraumeni and hereditary TP53 related cancer syndrome: implications for germline TP53 testing in breast cancer.
• Evans DG, Woodward ER.
• Fam Cancer. 2020 Sep 28. doi: 10.1007/s10689-020-00207-z. Epub ahead of print.

• Editorial
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• Discrepancies in Genetic Testing Procedures of BRCA1/2 Mutations: A National Survey Across China.
• Wu H, Xu B, Gao Q, Zhou X, Shao J, Liang Z, Ma D.
• Mol Diagn Ther. 2020 Sep 24. doi: 10.1007/s40291-020-00489-0. Epub ahead of print.

• PMID: 32970304
• PubMed abstract
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• Pathogenicity reclassification of two BRCA1/BRCA2 exonic duplications after identification of genomic breakpoints and tandem orientation.
• Pinheiro M, Peixoto A, Santos C, Escudeiro C, Bizarro S, Pinto P, Santos R, Pinto C, Guerra J, Silva J, Teixeira MR.
• Cancer Genet. 2020 Sep 11;248-249:18-24. doi: 10.1016/j.cancergen.2020.09.001. Epub ahead of print.

• PMID: 32971473
• PubMed abstract
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• Comparison of Molecular, Clinicopathological, and Pedigree Differences Between Lynch-Like and Lynch Syndromes.
• Xu Y, Huang Z, Li C, Zhu C, Zhang Y, Guo T, Liu F, Xu Y.
• Front Genet. 2020 Aug 19;11:991. doi: 10.3389/fgene.2020.00991.

• PMID: 32973888
• PubMed abstract

• Free PMC article
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• 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.
• Mol Genet Genomic Med. 2020 Sep 22:e1500. doi: 10.1002/mgg3.1500. Epub ahead of print.

• PMID: 32959997
• PubMed abstract
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• Implications of Incidental Germline Findings Identified In the Context of Clinical Whole Exome Sequencing for Guiding Cancer Therapy.
• Schneider BP, Stout LA, Philips S, Schroeder C, Scott SF, Hunter C, Kassem N, Kiel PJ, Radovich M.
• JCO Precis Oncol. 2020;4:1109. doi: 10.1200/PO.19.00354. Epub 2020 Sep 21.

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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.

• PMID: 32957588
• PubMed abstract
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• 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.

• PMID: 32911621
• PubMed abstract
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• 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.

• PMID: 32916545
• PubMed abstract
• Source abstract

• Genetic Testing Challenges in Oncology: Unnecessary Testing Identifies BRCA2 VUS in 16-Year-Old Girl.
• Ray T.
• Precision Oncology News. 2020 Sep 9.

• Press
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• 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.

• PMID: 32906215
• PubMed abstract
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