Category: Genetic Testing

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.

    • 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.

    • Tumor Fraction Correlates With Detection of Actionable Variants Across > 23,000 Circulating Tumor DNA Samples.
    • Husain H, Pavlick DC, Fendler BJ, Madison RW, Decker B, Gjoerup O, Parachoniak CA, McLaughlin-Drubin M, Erlich RL, Schrock AB, Frampton GM, Das Thakur M, Oxnard GR, Tukachinsky H.
    • JCO Precis Oncol. 2022 Oct [20];6:e2200261. doi: 10.1200/PO.22.00261.

    • LitAlert ~~ GeneLit.com

    • Next-generation universal hereditary cancer screening: implementation of an automated hereditary cancer screening program for patients with advanced cancer undergoing tumor sequencing in a large HMO.
    • Hoffman TL, Kershberg H, Goff J, Holmquist KJ, Haque R, Alvarado M.
    • Fam Cancer. 2022 Oct 20. doi: 10.1007/s10689-022-00317-w. Epub ahead of print.

    • Germline Testing and Somatic Tumor Testing for BRCA1/2 Pathogenic Variants in Ovarian Cancer: What Is the Optimal Sequence of Testing?
    • Kwon JS, Tinker AV, Santos J, Compton K, Sun S, Schrader KA, Karsan A.
    • JCO Precis Oncol. 2022 Oct [20];6:e2200033. doi: 10.1200/PO.22.00033.

    • SOLO-1 Data Support Use of Olaparib Maintenance to Achieve Long-Term Remission in BRCA+ Advanced Ovarian Cancer.
    • Flaherty C, DiSilvestro PA.
    • OncLive. 2022 Oct 20.

    Related:

    Identifier: NCT01844986: Olaparib Maintenance Monotherapy in Patients With BRCA Mutated Ovarian Cancer Following First Line Platinum Based Chemotherapy. (SOLO-1). (ClinicalTrials.gov . Accessed 2022 Oct 20.)

    • Uptake of BRCA1/BRCA2 predictive genetic testing in an Irish population is low: a missed opportunity.
    • O'Reilly DE, Dooley L, Watson GA, Clarke R, Nolan A, Nolan C, Berkeley E, Farrell M, McDevitt T, Rogers M, Clabby C, Gallagher DJ.
    • Ir J Med Sci. 2022 Oct 19. doi: 10.1007/s11845-022-03176-7. Epub ahead of print.

    • Population genomic screening: Ethical considerations to guide age at implementation.
    • Spencer SJ, Fullerton SM.
    • Front Genet. 2022 Oct 4;13:899648. doi: 10.3389/fgene.2022.899648.

    • Relatives from Hereditary Breast and Ovarian Cancer and Lynch Syndrome Families Forgoing Genetic Testing: Findings from the Swiss CASCADE Cohort.
    • Sarki M, Ming C, Aceti M, Fink G, Aissaoui S, Bürki N, Graffeo R, Heinimann K, Zufferey MC, Monnerat C, Rabaglio M, Zürrer-Härdi U, Chappuis PO, Katapodi MC.
    • J Pers Med. 2022 Oct 19;12(10):1740. doi: 10.3390/jpm12101740.

    • LitAlert ~~ GeneLit.com

    • How should we address the inevitable harms from non-negligent variant reclassification in predictive genetic testing?
    • Rashkin M, Kingham K, Lara-Otero , Mckenna M, Villiers J, Worthington MM, Prince A.
    • J Genet Couns. 2022 Oct 19. doi: 10.1002/jgc4.1638. Epub ahead of print.

    • Germline Genetic Testing in Breast Cancer: Systemic Therapy Implications.
    • Bhardwaj PV, Abdou YG.
    • Curr Oncol Rep. 2022 Oct 18. doi: 10.1007/s11912-022-01340-x. Epub ahead of print.
    • Review

    • LitAlert ~~ GeneLit.com

    • Clinical decisions by the molecular tumor board on comprehensive genomic profiling tests in Japan: A retrospective observational study.
    • Shirota H, Komine K, Takahashi M, Takahashi S, Miyauchi E, Niizuma H, Tada H, Shimada M, Niihori T, Aoki Y, Sugiyama I, Kawamura M, Yasuda J, Suzuki S, Iwaya T, Saito M, Saito T, Shibata H, Furukawa T, Ishioka C.
    • Cancer Med. 2022 Oct 17. doi: 10.1002/cam4.5349. Epub ahead of print.

    • Proband-mediated interventions to increase disclosure of genetic risk in families with a BRCA or Lynch syndrome condition: a systematic review.
    • Young AL, Imran A, Spoelma MJ, Williams R, Tucker KM, Halliday J, Forrest LE, Wakefield CE, Butow PN.
    • Eur J Hum Genet. 2022 Oct 17. doi: 10.1038/s41431-022-01200-z. Epub ahead of print.

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

    • An Accessible Communication System for Population-Based Genetic Testing: Development and Usability Study.
    • Coffin T, Bowen D, Swisher E, Lu K, Rayes N, Norquist B, Blank S, Levine D, Bakkum-Gamez J, Fleming G, Olopade O, D'Andrea A, Nebgen D, Peterson C, Munsell M, Gavin K, Lechner R, Crase J, Polinsky D, Romero I.
    • JMIR Form Res. 2022 Oct 17;6(10):e34055. doi: 10.2196/34055.

    • LitAlert ~~ GeneLit.com

    • Interest in genetic testing and risk-reducing behavioral changes: results from a community health assessment in New York City.
    • Lima SM, Nazareth M, Schmitt KM, Reyes A, Fleck E, Schwartz GK, Terry MB, Hillyer GC.
    • J Community Genet. 2022 Oct 13. doi: 10.1007/s12687-022-00610-2. Epub ahead of print.

    • Genetic Testing Challenges in Oncology: Missed Variant Update Delays Li-Fraumeni Diagnosis.
    • Ray T.
    • Precision Oncology News. 2022 Oct 12.

    Related:

    Special article:

    Is there a duty to reinterpret genetic data? The ethical dimensions.

    • A novel germline mutation of TP53 with breast cancer diagnosed as Li-Fraumeni syndrome.
    • Kai M, Kubo M, Shikada S, Hayashi S, Morisaki T, Yamada M, Takao Y, Shimazaki A, Harada Y, Kaneshiro K, Mizuuchi Y, Shindo K, Nakamura M.
    • Surg Case Rep. 2022 Oct 11;8(1):197. doi: 10.1186/s40792-022-01546-y.

    • LitAlert ~~ GeneLit.com

    • Study: Teens and young adults respond well to learning about familial cancer risk
    • [No author given]
    • FORCE. XRAY. 2022 Oct 11.

    Related:

    Original research:

    Long-Term Adaptation Among Adolescent and Young Adult Children to Familial Cancer Risk.

    Commentary:

    Breaking Down the Barriers of Hereditary Cancer Risk Disclosure in AYA.

    • Validation of the Nigerian Breast Cancer Study Model for Predicting Individual Breast Cancer Risk in Cameroon and Uganda.
    • Ashi K, Ndom P, Gakwaya A, Makumbi T, Olopade OI, Huo D.
    • Cancer Epidemiol Biomarkers Prev. 2022 Oct 10:EPI-22-0869. doi: 10.1158/1055-9965.EPI-22-0869. Epub ahead of print.

    • Ovarian Cancer Therapy: Homologous Recombination Deficiency as a Predictive Biomarker of Response to PARP Inhibitors.
    • Miller RE, Elyashiv O, El-Shakankery KH, Ledermann JA.
    • Onco Targets Ther. 2022 Oct 4;15:1105-1117. doi: 10.2147/OTT.S272199.