Category: Sequencing Technology

    • Functional homologous recombination assay on FFPE specimens of advanced high-grade serous ovarian cancer predicts clinical outcomes.
    • Pikkusaari S, Tumiati M, Virtanen A, Oikkonen J, Li Y, Perez-Villatoro F, Muranen T, Salko M, Huhtinen K, Kanerva A, Koskela H, Tapper J, Koivisto-Korander R, Joutsiniemi T, Haltia UMLassus H, Hautaniemi S, Farkkila A, Hynninen J, Hietanen S, Carpén O, Kauppi L.
    • Clin Cancer Res. 2023 Feb 20:ccr.22.3156. doi: 10.1158/1078-0432.CCR-22-3156. Epub ahead of print.

    • Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing.
    • Dixon K, Shen Y, O'Neill K, Mungall KL, Chan S, Bilobram S, Zhang W, Bezeau M, Sharma A, Fok A, Mungall AJ, Moore R, Bosdet I, Thibodeau ML, Sun S, Yip S, Schrader KA, Jones SJM.
    • Eur J Hum Genet. 2023 Feb 16. doi: 10.1038/s41431-023-01284-1. 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.

    • LitAlert ~~ GeneLit.com

    • Efficacy of Olaparib in Treatment-Refractory, Metastatic Breast Cancer with Uncommon Somatic BRCA Mutations Detected in Circulating Tumor DNA.
    • Yoon JK, Ahn J, Kim S, Kim HP, Kang JK, Bang D, Lim Y, Kim TY.
    • Cancer Res Treat. 2023 Jan 31. doi: 10.4143/crt.2022.1529. Epub ahead of print.

    • Implementation of BRCA mutations testing in formalin-fixed paraffin-embedded (FFPE) samples of different cancer types.
    • Zannini G, Facchini G, De Sio M, De Vita F, Ronchi A, Orditura M, Vietri MT, Ciardiello F, Franco R, Accardo M, Zito Marino F.
    • Pathol Res Pract. 2023 Jan 23;243:154336. doi: 10.1016/j.prp.2023.154336. Epub ahead of print.
    • Review

    • 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.

    • LitAlert ~~ GeneLit.com

    • 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.

    • Pyrosequencing assay for BRCA1 methylation analysis: results from a cross-validation study.
    • Sahnane N, Rivera D, Libera L, Carnevali I, Banelli B, Facchi S, Gismondi V, Paudice M, Cirmena G, Vellone VG, Sessa F, Varesco L, Tibiletti MG.
    • J Mol Diagn. 2023 Feb 3:S1525-1578(23)00005-3. doi: 10.1016/j.jmoldx.2023.01.003. Epub ahead of print.

    • Homologous Recombination Deficiency in Ovarian Cancer: From the Biological Rationale to Current Diagnostic Approaches.
    • Mangogna A, Munari G, Pepe F, Maffii E, Giampaolino P, Ricci G, Fassan M, Malapelle U, Biffi S.>
    • J Pers Med. 2023 Feb 2;13(2):284. doi: 10.3390/jpm13020284.

    • 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.

    • Shallow Whole-Genome Sequencing of Cell-Free DNA (cfDNA) Detects Epithelial Ovarian Cancer and Predicts Patient Prognosis.
    • Bak SE, Kim H, Ho JY, Cho EH, Lee J, Youn SM, Park SW, Han MR, Hur SY, Lee SJ, Choi YJ.
    • Cancers (Basel). 2023 Jan 15;15(2):530. doi: 10.3390/cancers15020530.