Category: Mutation Spectrum

LitAlert ~~ GeneLit.com

    • Prognostic impact of germline BRCA1/2 pathogenic variants in breast cancer.
    • Corso G, Girardi A, Calvello M, Gandini S, Gaeta A, Marabelli M, Magnoni F, Veronesi P, Guerrieri-Gonzaga A, Bonanni B.
    • Breast Cancer Res Treat. 2022 Nov 4. doi: 10.1007/s10549-022-06776-0. Epub ahead of print.

    • A common IGF1R gene variant predicts later life breast cancer risk in women with preeclampsia.
    • Powell M, Fuller S, Gunderson E, Benz C.
    • Breast Cancer Res Treat. 2022 Nov 4. doi: 10.1007/s10549-022-06789-9. Epub ahead of print.

    • Detection of microsatellite instability high (MSI-H) status by targeted plasma-based genotyping in metastatic breast cancer.
    • Vidula N, Lipman A, Kato S, Weipert C, Hesler K, Azzi G, Elkhanany A, Juric D, Rodriguez E, Faulkner C, Makhlouf P, Price K, O'Shaughnessy J, Bardia A.
    • NPJ Breast Cancer. 2022 Nov 4;8(1):117. doi: 10.1038/s41523-022-00490-2.

    • Adolescent Triple-negative Breast Cancer with Germline Pathogenic Variants in both BRCA1 and TP53 Genes: A Case Report.
    • Chen D, Yuan M, Zhang Y, Zhang C, Wan D.
    • Front Oncol. 2022 Oct 26;12:970641. doi: 10.3389/fonc.2022.970641.

    • PTEN Loss Enhances Error-Prone DSB Processing and Tumor Cell Radiosensitivity by Suppressing RAD51 Expression and Homologous Recombination.
    • Pei X, Mladenov E, Soni A, Li F, Stuschke M, Iliakis G.
    • Int J Mol Sci. 2022 Oct 25;23(21):12876. doi: 10.3390/ijms232112876.

    • LitAlert ~~ GeneLit.com

    • Development and Validation of a Breast Cancer Polygenic Risk Score on the Basis of Genetic Ancestry Composition.
    • Hughes E, Wagner S, Pruss D, Bernhisel R, Probst B, Abkevich V, Simmons T, Hullinger B, Judkins T, Rosenthal E, Roa B, Domchek SM, Eng C, Garber J, Gary M, Klemp J, Mukherjee S, Offit K, Olopade OI, Vijai J, Weitzel JN, Whitworth P, Yehia L, Gordon O, Pederson H, Kurian A, Slavin TP, Gutin A, Lanchbury JS.
    • JCO Precis Oncol. [2022 Nov 3];6:e2200084. doi: 10.1200/PO.22.00084.

    • Clinical application of artificial neural network (ANN) modeling to predict BRCA1/2 germline deleterious variants in Chinese bilateral primary breast cancer patients.
    • Li Y, Chen L, Lv J, Chen X, Zeng B, Chen M, Guo W, Lin Y, Yu L, Hou J, Li J, Zhou P, Zhang W, Li S, Jin X, Cai W, Zhang K, Huang Y, Wang C, Fu F.
    • BMC Cancer. 2022 Nov 2;22(1):1125. doi: 10.1186/s12885-022-10160-y.

    • Reducing the risk of breast cancer.
    • Pederson HJ, Al-Hilli Z, Kurian AW.
    • Cleve Clin J Med. 2022 Nov 1;89(11):643-652. doi: 10.3949/ccjm.89a.21113.

    • LitAlert ~~ GeneLit.com

    • Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.
    • Matta BP, Gomes R, Mattos D, Olicio R, Nascimento CM, Ferreira GM, Brant AC, Boroni M, Furtado C, Lima V, Moreira MÂM, Dos Santos ACE.
    • Sci Rep. 2022 Nov 3;12(1):18629. doi: 10.1038/s41598-022-23012-3.

    • A moving target for drug discovery: Structure activity relationship and many genome (de)stabilizing functions of the RAD52 protein.
    • Bhat DS, Spies MA, Spies M.
    • DNA Repair (Amst). 2022 Oct 27;120:103421. doi: 10.1016/j.dnarep.2022.103421. Epub ahead of print.
    • Review

    • LitAlert ~~ GeneLit.com

    • Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in a Hereditary Cancer Family.
    • Agaoglu NB, Ng OH, Unal B, Dogan OA, Amanvermez U, Yildiz J, Doganay L, Ghazani A, Rana HQ.
    • Cancer Genet. 2022 Nov 1. doi: 10.1016/j.cancergen.2022.10.144. Epub ahead of print.
    • Case report

    • The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients.
    • Baz M, Gondran-Teiller V, Bressac B, Cabaret O, Fievet A, Dimaria M, Goldbarg V, Colas C, Bonnet-Dupeyron MN, Tinat J, Lebrun M, Mari V, Limacher JM, Corsini C, Ginglinger E, Saurin JC, Brahimi A, Rouzier C, Giraud S, Schuster H, Hollebecque A, Boige V, Cauchin E, Malka D, Caron O, Rouleau E.
    • Dig Dis Sci. 2022 Oct 31. doi: 10.1007/s10620-022-07733-z. Epub ahead of print.

    • Germline and somatic variants in ovarian carcinoma: a next-generation sequencing (NGS) analysis.
    • Andrikopoulou A, Zografos E, Apostolidou K, Kyriazoglou T, Papatheodoridi AM, Kaparelou M, Koutsoukos K, Liontos M, Dimopoulos M, Zagouri F.
    • Front Oncol. 2022 Oct 31;12:1030786. doi: 10.3389/fonc.2022.1030786.

    • Hereditary variants of unknown significance in African American women with breast cancer.
    • McDonald JT, Ricks-Santi LJ.
    • PLoS One. 2022 Oct 31;17(10):e0273835. doi: 10.1371/journal.pone.0273835.

    • Methylation of promoter region of BRCA1 gene versus pathogenic variants of gene: risk factor or clinical marker of breast cancer.
    • Lobanova O, Medvedieva N, Fishchuk L, Dubitska O, Cheshuk V, Vereshchako R, Zakhartseva L, Rossokha Z, Gorovenko N.
    • Breast Cancer Res Treat. 2022 Oct 25. doi: 10.1007/s10549-022-06774-2. Epub ahead of print.

    • Prognostic Role of DNA Damage Response Genes Mutations and their Association With the Sensitivity of Olaparib in Prostate Cancer Patients.
    • Zhang D, Xu X, Wei Y, Chen X, Li G, Lu Z, Zhang X, Ren X, Wang S, Qin C.
    • Cancer Control. 2022 Jan-Dec [2022 Oct 25];29:10732748221129451. doi: 10.1177/10732748221129451.

    • LitAlert ~~ GeneLit.com

    • Comprehensive Clinical and Genetic Analysis of CHEK2 in Croatian Men with Prostate Cancer.
    • Kirchner K, Gamulin M, Kulis T, Sievers B, Kastelan Z, Lessel D.
    • Genes (Basel). 2022 Oct 27;13(11):1955. doi: 10.3390/genes13111955.

    • Mitomycin C in Homologous Recombination Deficient Metastatic Pancreatic Cancer after Disease Progression on Platinum-Based Chemotherapy and Olaparib.
    • Botrus G, Roe D, Jameson GS, Serrano Uson Junior PL, Korn RL, Caldwell L, Bargenquast T, Miller M, Borazanci EH.
    • Biomedicines. 2022 Oct 26;10(11):2705. doi: 10.3390/biomedicines10112705.

    • LitAlert ~~ GeneLit.com

    • PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients.
    • Giardiello D, Hooning MJ, Hauptmann M, Keeman R, Heemskerk-Gerritsen BAM, Becher H, Blomqvist C, Bojesen SE, Bolla MK, Camp NJ, Czene K, Devilee P, Eccles DM, Fasching PA, Figueroa JD, Flyger H, García-Closas M, Haiman CA, Hamann U, Hopper JL, Jakubowska A, Leeuwen FE, Lindblom A, Lubinski J, Margolin S, Martinez ME, Nevanlinna H, Nevelsteen I, Pelders S, Pharoah PDP, Siesling S, Southey MC, van der Hout AH, van Hest LP, Chang-Claude J, Hall P, Easton DF, Steyerberg EW, Schmidt MK.
    • Breast Cancer Res. 2022 Oct 21;24(1):69. doi: 10.1186/s13058-022-01567-3.

    • APC germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?
    • Vibert R, Le Gall J, Buecher B, Mouret-Fourme E, Bataillon G, Becette V, Trabelsi-Grati O, Moncoutier V, Dehainault C, Carriere J, Schwartz M, Suybeng V, Bieche I, Colas C, Vincent-Salomon A, Stoppa-Lyonnet D, Golmard L.
    • J Med Genet. 2022 Oct 21:jmedgenet-2022-108467. doi: 10.1136/jmg-2022-108467. Epub ahead of print.
    • Case report

    • Mutational landscape of DNA damage response deficiency-related genes and its association with immune biomarkers in esophageal squamous cell carcinoma.
    • Chen G, Zhu YJ, Chen J, Miao F, Wu N, Song Y, Mao BB, Wang SZ, Xu F, Chen ZM.
    • Neoplasma. 2022 Oct 21:220721N738. doi: 10.4149/neo_2022_220721N738. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • A phase II study of talazoparib monotherapy in patients with wild-type BRCA1 and BRCA2 with a mutation in other homologous recombination genes.
    • Gruber JJ, Afghahi A, Timms K, DeWees A, Gross W, Aushev VN, Wu HT, Balcioglu M, Sethi H, Scott D, Foran J, McMillan A, Ford JM, Telli ML.
    • Nat Cancer. 2022 Oct 17. doi: 10.1038/s43018-022-00439-1. Epub ahead of print.

    Related:

    Identifier: NCT02401347: Phase II Trial of Talazoparib in BRCA1/2 Wild-type HER2-negative Breast Cancer and Other Solid Tumors. (ClinicalTrials.gov . Accessed 2022 Oct 18.)

    Identifier: NCT04756765: Talazoparib Monotherapy in PALB2 Mutation Associated Advanced Breast Cancer. (ClinicalTrials.gov . Accessed 2022 Oct 18.)

    • Polygenic Risk Scores Could Refine Breast Cancer Screening Recommendations.
    • Curtin C.
    • Precision Oncology News. 2022 Oct 17.
    • Research news