Category: VUS

    • Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis
    • Nix P, Mundt E, Coffee B, Goossen E, Warf BM, Brown K, Bowles K, Roa B.
    • Fam Cancer. 2021 Jan 20. doi: 10.1007/s10689-020-00224-y. Epub ahead of print.

    • Prevalence and reclassification of BRCA1 and BRCA2 variants in a large, unselected Chinese Han breast cancer cohort.
    • Liu Y, Wang H, Wang X, Liu J, Li J, Wang X, Zhang Y, Bai Z, Zhou Q, Wu Y, Shen Y, Weng X, Liu F, Guo J, Di L, Gires O, Zhang Z, Chen Y, Wang H.
    • J Hematol Oncol. 2021 Jan 18;14(1):18. doi: 10.1186/s13045-020-01010-0.

    • The RAD51D c.82G>A (p.Val28Met) variant disrupts normal splicing and is associated with hereditary ovarian cancer.
    • Yang C, Arnold AG, Catchings A, Rai V, Stadler ZK, Zhang L.
    • Breast Cancer Res Treat. 2021 Jan 16. doi: 10.1007/s10549-020-06066-7. Epub ahead of print.

    • Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
    • Fortuno C, Lee K, Olivier M, Pesaran T, Mai PL, de Andrade KC, Attardi LD, Crowley S, Gareth Evans D, Feng BJ, Foreman AKM, Frone MN, Huether R, James PA, McGoldrick K, Mester J, Seifert BA, Slavin TP, Witkowski L, Zhang L, Plon SE, Spurdle AB, Savage SA; ClinGen TP53 Variant Curation Expert Panel.
    • Hum Mutat. 2020 Dec 10. doi: 10.1002/humu.24152. Epub ahead of print.

    • Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients.
    • Rashid MU, Muhammad N, Ali Khan F, Shehzad U, Naeemi H, Malkani N, Hamann U.
    • Hered Cancer Clin Pract. 2020 Dec 20;18:25. doi: 10.1186/s13053-020-00159-6.

    • BRCA1 and BRCA2 Truncating Mutations and Variants of Unknown Significance in Egyptian Female Breast Cancer Patients.
    • AbdelHamid SG, Zekri AN, AbdelAziz HM, El-Mesallamy HO.
    • Clin Chim Acta. 2020 Dec 2:S0009-8981(20)30556-8. doi: 10.1016/j.cca.2020.11.023. Epub ahead of print.

    • Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).
    • Hauke J, Harter P, Ernst C, Burges A, Schmidt S, Reuss A, Borde J, De Gregorio N, Dietrich D, El-Balat A, Kayali M, Gevensleben H, Hilpert F, Altmüller J, Heimbach A, Meier W, Schoemig-Markiefka B, Thiele H, Kimmig R, Nürnberg P, Kast K, Richters L, Sehouli J, Schmutzler RK, Hahnen E.
    • J Med Genet. 2020 Dec 3:jmedgenet-2020-107353. doi: 10.1136/jmedgenet-2020-107353. Epub ahead of print.

    • Mutational Landscape for Indian Hereditary Breast and Ovarian Cancer cohort suggests need for identifying population specific genes and biomarkers for screening.
    • Shaad M, Patel K, Bhargava PA, Shah FD, Badgujar NV, Tarapara BV, Patel PS, Shaikh I, Shah K, Patel A, Pandya S, Vora H, Joshi CG, Joshi M.
    • Front Oncol. 2020 Dec 2;10:568786. doi: 10.3389/fonc.2020.568786.

    • Identification of Novel BRCA1 and RAD50 Mutations Associated With Breast Cancer Predisposition in Tunisian Patients.
    • Mighri N, Hamdi Y, Boujemaa M, Othman H, Ben Nasr S, El Benna H, Mejri N, Labidi S, Ayari J, Jaidene O, Bouaziz H, Ben Rekaya M, M'rad R, Haddaoui A, Rahal K, Boussen H, Boubaker S, Abdelhak S.
    • Front Genet. 2020 Nov 6;11:552971. doi: 10.3389/fgene.2020.552971.

    • LitAlert ~~ GeneLit.com

    • Reclassification of BRCA1 and BRCA2 variants found in ovarian epithelial, fallopian tube, and primary peritoneal cancers.
    • Ha HI, Ryu JS, Shim H, Kong SY, Lim MC.
    • J Gynecol Oncol. 2020 Nov;31(6):e83. doi: 10.3802/jgo.2020.31.e83.

    • Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance.
    • Lyra PCM Jr, Nepomuceno TC, de Souza MLM, Machado GF, Veloso MF, Henriques TB, Dos Santos DZ, Ribeiro IG, Ribeiro RS Jr, Rangel LBA, Richardson M, Iversen ES, Goldgar D, Couch FJ, Carvalho MA, Monteiro ANA.
    • Genet Med. 2020 Oct 22. doi: 10.1038/s41436-020-00991-0. Epub ahead of print.

    • Frequency and spectrum of mutations across 94 cancer predisposition genes in African American women with invasive breast cancer.
    • Lovejoy LA, Rummel SK, Turner CE, Shriver CD, Ellsworth RE.
    • Fam Cancer. 2020 Oct 21. doi: 10.1007/s10689-020-00213-1. Epub ahead of print.

    • Germline testing for homologous recombination repair genes - opportunities and challenges.
    • Hirsch S, Gieldon L, Sutter C, Dikow N, Schaaf CP.
    • Genes Chromosomes Cancer. 2020 Oct 20. doi: 10.1002/gcc.22900. Epub ahead of print.
    • Review