Category: VUS

LitAlert ~~ GeneLit.com

    • Comparison of Survival Outcomes According to BRCA1/2 Variant Type in High-grade Serous Ovarian Cancer.
    • Lee J, Kim JM, Lee YH, Chong GO, Lee NY, Lee IH, Park JY, Hong DG.
    • In Vivo. 2022 Jul-Aug;36(4):1903-1910. doi: 10.21873/invivo.12910.

    • Classification of BRCA2 variants of uncertain significance (VUS) using an ACMG/AMP model incorporating a homology directed repair (HDR) functional assay.
    • Hu C, Susswein LR, Roberts ME, Yang H, Marshall ML, Hiraki S, Berkofsky-Fessler W, Gupta S, Shen W, Dunn CA, Huang H, Na J, Domchek SM, Yadav S, Monteiro ANA, Polley EC, Hart SN, Hruska KS, Couch FJ.
    • Clin Cancer Res. 2022 Jun 23:clincanres.0203.2022. doi: 10.1158/1078-0432.CCR-22-0203. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer.
    • Germani A, Guadagnolo D, Salvati V, Micolonghi C, Mancini R, Mastromoro G, Sadeghi S, Petrucci S, Pizzuti A, Piane M.
    • Diagnostics (Basel). 2022 Jun 22;12(7):1520. doi: 10.3390/diagnostics12071520.

    • What Chris Evert’s Story Can Teach the World about Genetic Testing.
    • Matloff ET.
    • FORCE. Blog. 2022 Jun 22.

    • Psychological and health behaviour outcomes following multi-gene panel testing for hereditary breast and ovarian cancer risk: a mini-review of the literature.
    • Carlsson L, Thain E, Gillies B, Metcalfe K.
    • Hered Cancer Clin Pract. 2022 Jun 22;20(1):25. doi: 10.1186/s13053-022-00229-x.

    • Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.
    • Aljarf R, Shen M, Pires DEV, Ascher DB.
    • Sci Rep. 2022 Jun 21;12(1):10458. doi: 10.1038/s41598-022-13508-3.

    • Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.
    • Bisgin A, Sag SO, Dogan ME, Yildirim MS, Gumus AA, Akkus N, Balasar O, Durmaz CD, Ersoz R, Altiner S, Alemdar A, Aliyeva L, Boga I, Cam FS, Dogan B, Esbah O, Hanta A, Mujde C, Ornek C, Ozer S, Rencuzogullari C, Sonmezler O, Bozdogan ST, Dundar M, Temel SG.
    • Breast. 2022 Jun 20:S0960-9776(22)00113-8. doi: 10.1016/j.breast.2022.06.005. Epub ahead of print.

    • Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.
    • Bueno-Martínez E, Sanoguera-Miralles L, Valenzuela-Palomo A, Esteban-Sánchez A, Lorca V, Llinares-Burguet I, Allen J, García-Álvarez A, Pérez-Segura P, Durán M, Easton DF, Devilee P, Vreeswijk MPG, de la Hoya M, Velasco-Sampedro EA.
    • J Pathol. 2022 Jun 18. doi: 10.1002/path.5979. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake.
    • Ramsey ML, Tomlinson J, Pearlman R, Abushahin L, Aeilts A, Chen HZ, Chen Y, Compton A, Elkhatib R, Geiger L, Hays J, Jeter J, Jin N, Malalur P, Roychowdhury S, Ruple J, Prebish J, Stanich PP, Hampel H.
    • Fam Cancer. 2022 Jun 17. doi: 10.1007/s10689-022-00300-5. Epub ahead of print.

    • The Pathogenic R3052W BRCA2 Variant Disrupts Homology-Directed Repair by Failing to Localize to the Nucleus.
    • Jimenez-Sainz J, Krysztofiak A, Garbarino J, Rogers F, Jensen RB.
    • Front Genet. 2022 May 30;13:884210. doi: 10.3389/fgene.2022.884210.

    • LitAlert ~~ GeneLit.com

    • Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan.
    • Akbar F, Siddiqui Z, Waheed MT, Ehsan L, Ali SI, Wiquar H, Valimohammed AT, Khan S, Vohra L, Zeeshan S, Rashid Y, Moosajee M, Jabbar AA, Zahir MN, Zahid N, Soomro R, Ullah NN, Ahmad I, Haider G, Ansari U, Rizvi A, Mehboobali A, Sattar A, Kirmani S.
    • Hered Cancer Clin Pract. 2022 Jun 16;20(1):24. doi: 10.1186/s13053-022-00232-2.

    • Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C.
    • Sanoguera-Miralles L, Bueno-Martínez E, Valenzuela-Palomo A, Esteban-Sánchez A, Llinares-Burguet I, Pérez-Segura P, García-Álvarez A, de la Hoya M, Velasco-Sampedro EA.
    • Cancers (Basel). 2022 Jun 15;14(12):2960. doi: 10.3390/cancers14122960.

    • Risk-reducing surgery in unaffected individuals receiving cancer genetic testing in an integrated health care system.
    • Knerr S, Guo B, Mittendorf KF, Spencer Feigelson H, Gilmore MJ, Jarvik GP, Kauffman TL, Keast E, Lynch FL, Muessig KR, Okuyama S, Veenstra DL, Zepp JM, Goddard KAB, Devine B.
    • Cancer. 2022 Jun 9. doi: 10.1002/cncr.34349. Epub ahead of print

    • Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK).
    • Loong L, Garrett A, Allen S, Choi S, Durkie M, Callaway A, Drummond J, Burghel GJ, Robinson R, Torr B, Berry IR, Wallace AJ, Eccles DM, Ellard S, Baple E, Evans DG, Woodward ER, Kulkarni A, Lalloo F, Tischkowitz M, Lucassen A, Hanson H, Turnbull C; CanVIG-UK.
    • Genet Med. 2022 Jun 3:S1098-3600(22)00757-2. doi: 10.1016/j.gim.2022.05.002. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.
    • Iversen ES Jr, Lipton G, Hart SN, Lee KY, Hu C, Polley EC, Pesaran T, Yussuf A, LaDuca H, Chao E, Karam R, Goldgar DE, Couch FJ, Monteiro ANA.
    • NPJ Genom Med. 2022 Jun 3;7(1):35. doi: 10.1038/s41525-022-00302-3.

    • Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions.
    • Clark KA, Paquette A, Tao K, Bell R, Boyle JL, Rosenthal J, Snow AK, Stark AW, Thompson BA, Unger J, Gertz J, Varley KE, Boucher KM, Goldgar DE, Foulkes WD, Thomas A, Tavtigian SV.
    • Am J Hum Genet. 2022 Jun 2;109(6):1153-1174. doi: 10.1016/j.ajhg.2022.05.004.

    • Germline Variant Spectrum Among African American Men Undergoing Prostate Cancer Germline Testing: Need for Equity in Genetic Testing.
    • Giri VN, Hartman R, Pritzlaff M, Horton C, Keith SW.
    • JCO Precis Oncol. 2022;6:e2200234. doi: 10.1200/PO.22.00234. Epub 2022 Jun 6.