Author: Steve Kopczak

LitAlert ~~ GeneLit.com

    • Functional Analysis of Variants in BRCA1 Using CRISPR Base Editors.
    • See JE, Kim Y.
    • Methods Mol Biol. 2023 [First Online: 2023 Jan 3];2606:73-85. doi: 10.1007/978-1-0716-2879-9_7.

    • Prognostic relevance of HRDness gene expression signature in ovarian high-grade serous carcinoma; JGOG3025-TR2 study.
    • Takamatsu S, Yoshihara K, Baba T, Shimada M, Yoshida H, Kajiyama H, Oda K, Mandai M, Okamoto A, Enomoto T, Matsumura N.
    • Br J Cancer. 2023 Jan 2. doi: 10.1038/s41416-022-02122-9. Epub ahead of print.

    • Prevalence of Germline BRCA1/2 Variants in Ashkenazi and Non-Ashkenazi Prostate Cancer Populations: A Systematic Review and Meta-Analysis.
    • Cioffi A, De Cobelli O, Veronesi P, La Vecchia C, Maisonneuve P, Corso G.
    • Cancers (Basel). 2023 Jan 2;15(1):306. doi: 10.3390/cancers15010306.

    • The Role of Hormonal Replacement Therapy in BRCA Mutated Patients: Lights and Shadows.
    • Loizzi V, Dellino M, Cerbone M, Arezzo F, Cazzato G, Damiani GR, Pinto V, Silvestris E, Kardhashi A, Cicinelli E, Cascardi E, Cormio G.
    • Int J Mol Sci. 2023 Jan 1;24(1):764. doi: 10.3390/ijms24010764.

    • Widespread genomic/molecular alterations of DNA helicases and their clinical/therapeutic implications across human cancer.
    • Qin X, Wang J, Wang X, Huang T, Fang Z, Yan L, Fan Y, Xu D.
    • Biomed Pharmacother. 2022 Dec 29;158:114193. doi: 10.1016/j.biopha.2022.114193. Epub ahead of print.

    • Development of a comprehensive approach to adult hereditary cancer testing in Ontario.
    • Bell KA, Kim R, Aronson M, Gillies B, Ali Awan A, Chun K, Hart J, Healey R, Kim L, Klaric G, Panabaker K, Sabatini PJB, Sadikovic B, Selvarajah S, Smith AC, Stockley TL, Vaags AK, Eisen A, Pollett A, Feilotter H.
    • J Med Genet. 2022 Dec 23:jmg-2022-108945. doi: 10.1136/jmg-2022-108945. Epub ahead of print.

    • Parent-of-origin detection and chromosome-scale haplotyping using long-read DNA methylation sequencing and Strand-seq.
    • Akbari V, Hanlon VCT, O’Neill K, Lefebvre L, Schrader KA, Lansdorp PM, Jones SJM.
    • Cell Genom. 2021 Dec 21. doi: 10.1016/j.xgen.2022.100233. Epub ahead of print.

    Related:

    •• Research news: Genetic Test Identifies Parental Source of Cancer Variant. (Medscape Oncology)

    • Next-generation sequencing of homologous recombination genes could predict efficacy of platinum-based chemotherapy in non-small cell lung cancer.
    • Zhang L, Guan S, Meng F, Teng L, Zhong D.
    • Front Oncol. 2022 Dec 14;12:1035808. doi: 10.3389/fonc.2022.1035808.

    • The use of Ctrough for the therapeutic drug monitoring of olaparib in patients with ovarian cancer.
    • Stanisławiak-Rudowicz J, Szałek E, Grzebalska M, Urjasz H, Michalak M, Mądry R, Grześkowiak E.
    • Eur Rev Med Pharmacol Sci. 2022 Dec;26(24):9426-9436. doi: 10.26355/eurrev_202212_30694.

    • Effectiveness of Secondary Risk-Reducing Strategies in Patients With Unilateral Breast Cancer With Pathogenic Variants of BRCA1 and BRCA2 Subjected to Breast-Conserving Surgery: Evidence-Based Simulation Study.
    • Maksimenko J, Rodrigues PP, Nakazawa-Miklaševiča M, Pinto D, Miklaševičs E, Trofimovičs G, Gardovskis J, Cardoso F, Cardoso MJ.
    • JMIR Form Res. 2022 Dec 29;6(12):e37144. doi: 10.2196/37144.

    • Frequency of Pathogenic Germline Mutations in Early and Late Onset Familial Breast Cancer Patients Using Multi-Gene Panel Sequencing: An Egyptian Study.
    • Nassar A, Zekri ARN, Kamel MM, Elberry MH, Lotfy MM, Seadawy MG, Hassan ZK, Soliman HK, Lymona AM, El-Din Youssef AS.
    • Genes (Basel). 2022 Dec 29;14(1):106. doi: 10.3390/genes14010106.

    • Combination with vorinostat enhances the antitumor activity of cisplatin in castration-resistant prostate cancer by inhibiting DNA damage repair pathway and detoxification of GSH.
    • Chang T, Lian Z, Ma S, Liang Z, Ma X, Wen X, Wang Y, Liu R.
    • Prostate. 2022 Dec 28. doi: 10.1002/pros.24479. Epub ahead of print.

    • Frequency of Pathogenic Germline Mutations in Early and Late Onset Familial Breast Cancer Patients Using Multi-Gene Panel Sequencing: An Egyptian Study.
    • Nassar A, Zekri ARN, Kamel MM, Elberry MH, Lotfy MM, Seadawy MG, Hassan ZK, Soliman HK, Lymona AM, El-Din Youssef AS.
    • Genes (Basel). 2022 Dec 29;14(1):106. doi: 10.3390/genes14010106.

    • LitAlert ~~ GeneLit.com

    • Frequency of Pathogenic Germline Mutations in Early and Late Onset Familial Breast Cancer Patients Using Multi-Gene Panel Sequencing: An Egyptian Study.
    • Nassar A, Zekri ARN, Kamel MM, Elberry MH, Lotfy MM, Seadawy MG, Hassan ZK, Soliman HK, Lymona AM, El-Din Youssef AS.
    • Genes (Basel). 2022 Dec 29;14(1):106. doi: 10.3390/genes14010106.

    • Assessing the pathogenicity of BRCA1/2 Variants of Unknown Significance: relevance and challenges for Breast Cancer precision medicine.
    • De Paolis E, Paris I, Tilocca B, Roncada P, Foca L, Tiberi G, D'Angelo T, Pavese F, Muratore M, Carbognin L, Garganese G, Masetti R, Di Leone A, Fabi A, Scambia G, Urbani A, Generali D, Minucci A, Santonocito C.
    • Front Oncol. 2022 Dec 28;12:1053035. doi: 10.3389/fonc.2022.1053035.

    • LitAlert ~~ GeneLit.com

    • Frequency of Pathogenic Germline Mutations in Early and Late Onset Familial Breast Cancer Patients Using Multi-Gene Panel Sequencing: An Egyptian Study.
    • Nassar A, Zekri ARN, Kamel MM, Elberry MH, Lotfy MM, Seadawy MG, Hassan ZK, Soliman HK, Lymona AM, El-Din Youssef AS.
    • Genes (Basel). 2022 Dec 29;14(1):106. doi: 10.3390/genes14010106.

    • Combination with vorinostat enhances the antitumor activity of cisplatin in castration-resistant prostate cancer by inhibiting DNA damage repair pathway and detoxification of GSH.
    • Chang T, Lian Z, Ma S, Liang Z, Ma X, Wen X, Wang Y, Liu R.
    • Prostate. 2022 Dec 28. doi: 10.1002/pros.24479. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Contralateral Prophylactic Mastectomy among Women with Pathogenic Variants in BRCA1/2: Overall Survival, Racial, and Ethnic Differences.
    • Makhnoon S, Gutierrez Barrera AM, Bassett R, Afrough A, Bedrosian I, Arun BK.
    • Breast J. 2022 Dec 31. doi: 10.1155/2022/1447545. Online ahead of print.

    • Frequency of Pathogenic Germline Mutations in Early and Late Onset Familial Breast Cancer Patients Using Multi-Gene Panel Sequencing: An Egyptian Study.
    • Nassar A, Zekri ARN, Kamel MM, Elberry MH, Lotfy MM, Seadawy MG, Hassan ZK, Soliman HK, Lymona AM, El-Din Youssef AS.
    • Genes (Basel). 2022 Dec 29;14(1):106. doi: 10.3390/genes14010106.

    • LitAlert ~~ GeneLit.com

    • Contralateral Prophylactic Mastectomy among Women with Pathogenic Variants in BRCA1/2: Overall Survival, Racial, and Ethnic Differences.
    • Makhnoon S, Gutierrez Barrera AM, Bassett R, Afrough A, Bedrosian I, Arun BK.
    • Breast J. 2022 Dec 31. doi: 10.1155/2022/1447545. Online ahead of print.

    • Assessing the pathogenicity of BRCA1/2 Variants of Unknown Significance: relevance and challenges for Breast Cancer precision medicine.
    • De Paolis E, Paris I, Tilocca B, Roncada P, Foca L, Tiberi G, D'Angelo T, Pavese F, Muratore M, Carbognin L, Garganese G, Masetti R, Di Leone A, Fabi A, Scambia G, Urbani A, Generali D, Minucci A, Santonocito C.
    • Front Oncol. 2022 Dec 28;12:1053035. doi: 10.3389/fonc.2022.1053035.

    • LitAlert ~~ GeneLit.com

    • Contralateral Prophylactic Mastectomy among Women with Pathogenic Variants in BRCA1/2: Overall Survival, Racial, and Ethnic Differences.
    • Makhnoon S, Gutierrez Barrera AM, Bassett R, Afrough A, Bedrosian I, Arun BK.
    • Breast J. 2022 Dec 31. doi: 10.1155/2022/1447545. Online ahead of print.