Category: VUS

    • Survival outcomes in patients with BRCA mutated, variant of unknown significance, and wild type ovarian cancer treated with PARP inhibitors.
    • Musacchio L, Boccia S, Marchetti C, Minucci A, Camarda F, Cassani C, Ventriglia J, Salutari V, Ghizzoni V, Giudice E, Perri MT, Carbone MV, Ricci C, Pignata S, Fagotti A, Scambia G, Lorusso D.
    • Int J Gynecol Cancer. 2023 Feb 9:ijgc-2022-003903. doi: 10.1136/ijgc-2022-003903. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Molecular dynamics simulations reveal the effect of mutations in the RING domains of BRCA1-BARD1 complex and its relevance to the prognosis of breast cancer.
    • Kiewhuo K, Priyadarsinee L, Sarma H, Sastry GN.
    • J Biomol Struct Dyn. 2023 Feb 12:1-19. doi: 10.1080/07391102.2023.2175383. Epub ahead of print.

    • Challenges in periodic revision of genetic testing results: comparison of the main classification guidelines and report of a retrospective analysis involving BRCA1/BRCA2 Variants of Uncertain Significance.
    • Finger Andreis T, Isabel Weber de Souza K, Araujo Vieira I, Alemar B, Sinigaglia M, Marinho de Araújo Rocha Y, Artigalás O, Bittar C, Brinckmann Oliveira Netto C, Ashton-Prolla P, Rosset C.
    • Gene. 2023 Feb 10:147281. doi: 10.1016/j.gene.2023.147281. Epub ahead of print.

    • Analysis of BRCA1 and BRCA2 alternative splicing in predisposition to ovarian cancer.
    • Jasiak A, Koczkowska M, Stukan M, Wydra D, Biernat W, Izycka-Swieszewska E, Buczkowski K, Eccles MR, Walker L, Wasag B, Ratajska M.
    • Exp Mol Pathol. 2023 Feb 13:104856. doi: 10.1016/j.yexmp.2023.104856. Epub ahead of print.

    • Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in BRCA2.
    • Mayoral I, Almeida Santiago A, Sánchez-Zapardiel JM, Hidalgo Calero B, de la Hoya M, Gómez-Sanz A, de Miguel Reyes M, Robles L.
    • Genes (Basel). 2023 Feb 15;14(2):502. doi: 10.3390/genes14020502.

    • Evaluation of AlphaFold Structure-based Protein Stability Prediction on Missense Variations in Cancer.
    • Karakoyun HK, Yuksel SK, Amanoglu I, Naserikhojasteh L, Yakicier C, Yesilyurt A, Timucin E, Akyerli CB.
    • Front Genet. 2023 Feb 8;14:1052383. doi: 10.3389/fgene.2023.1052383.

    • LitAlert ~~ GeneLit.com

    • The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.
    • Chevarin M, Alcantara D, Albuisson J, Collonge-Rame MA, Populaire C, Selmani Z, Baurand A, Sawka C, Bertolone G, Callier P, Duffourd Y, Jonveaux P, Bignon YJ, Coupier I, Cornelis F, Cordier C, Mozelle-Nivoix M, Rivière JB, Kuentz P, Thauvin C, Boidot R, Ghiringhelli F, O'Driscoll M, Faivre L, Nambot S.
    • Oncotarget. 2023 Feb 7;14:111-125. doi: 10.18632/oncotarget.28358.

    • Genetic analyses of DNA repair pathway associated genes implicates new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases.
    • Alenezi WM, Fierheller CT, Serruya C, Revil T, Oros Klein K, Subramanian DN, Bruce J, Spiegelman D, Pugh T, Campbell I, Mes-Masson AM, Provencher D, Foulkes W, El Haffaf Z, Rouleau G, Bouchard L, Greenwood CM, Ragoussis J, Tonin PN.
    • Front Oncol. 2023 Feb 6;13:1111191. doi: 10.3389/fonc.2023.1111191.

    • Clinical and laboratory genetic counselor attitudes on the reporting of variants of uncertain significance for multigene cancer panels.
    • Chang EY, Solomon I, Culver JO, Gorman N, Comeaux JG, Lerman C, Quinn EA, Ekstein T.
    • J Genet Couns. 2023 Feb 6. doi: 10.1002/jgc4.1680. Epub ahead of print.

    • Validation of multi-gene panel next-generation sequencing for the detection of BRCA mutation in formalin-fixed, paraffin-embedded epithelial ovarian cancer tissues.
    • Kim ET, Jeong HE, Yoon HJ, Kim KH, Suh DS.
    • Taiwan J Obstet Gynecol. 2023 Jan;62(1):66-70. doi: 10.1016/j.tjog.2022.07.010.

    • Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.
    • Tavano F, Gioffreda D, Fontana A, Palmieri O, Gentile A, Latiano T, Latiano A, Latiano TP, Scaramuzzi M, Maiello E, Bazzocchi F, Perri F.
    • Mol Med. 2023 Jan 30;29(1):14. doi: 10.1186/s10020-023-00600-1.