Category: Mutation Spectrum

    • CRISPR–Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes.
    • Walsh T, Casadei S, Munson KM, Eng M, Mandell JB, Gulsuner S, King MC.
    • J Med Genet. 2020 Oct 15:jmedgenet-2020-107320. doi: 10.1136/jmedgenet-2020-107320. Epub ahead of print.
    • Case report

    • The role of TP53 pathogenic variants in early-onset HER2-positive breast cancer.
    • Escudeiro C, Pinto C, Vieira J, Peixoto A, Pinto P, Pinheiro M, Santos C, Guerra J, Lisboa S, Santos R, Silva J, Leal C, Coimbra N, Lopes P, Ferreira M, Sousa AB, Teixeira MR.
    • Fam Cancer. 2020 Oct 14. doi: 10.1007/s10689-020-00212-2. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Feedback of extended panel sequencing in 1,530 patients referred for suspicion of hereditary predisposition to adult cancers.
    • Cavaillé M, Uhrhammer N, Privat M, Ponelle-Chachuat F, Gay-Bellile M, Lepage M, Viala S, Bidet Y, Bignon YJ.
    • Clin Genet. 2020 Oct 12. doi: 10.1111/cge.13864. Epub ahead of print.

    • Impact of young age on platinum response in women with epithelial ovarian cancer: Results of a large single-institution registry.
    • Michels J, Genestie C, Dunant A, Caron O, Lanoy E, Colomba E, Pommeret F, Rey A, Gouy S, Duvillard P, Le Teuff G, Larue C, Savoye AM, Lhommé C, Leary A, Morice P, Pautier P.
    • Gynecol Oncol. 2020 Oct 12:S0090-8258(20)33960-3. doi: 10.1016/j.ygyno.2020.09.050. Epub ahead of print.

    • The relationship between BRCA-associated breast cancer and age factors: an analysis of the Japanese HBOC consortium database.
    • Okano M, Nomizu T, Tachibana K, Nagatsuka M, Matsuzaki M, Katagata N, Ohtake T, Yokoyama S, Arai M, Nakamura S.
    • J Hum Genet. 2020 Oct 12. doi: 10.1038/s10038-020-00849-y. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Impact of young age on platinum response in women with epithelial ovarian cancer: Results of a large single-institution registry.
    • Michels J, Genestie C, Dunant A, Caron O, Lanoy E, Colomba E, Pommeret F, Rey A, Gouy S, Duvillard P, Le Teuff G, Larue C, Savoye AM, Lhommé C, Leary A, Morice P, Pautier P.
    • Gynecol Oncol. 2020 Oct 12:S0090-8258(20)33960-3. doi: 10.1016/j.ygyno.2020.09.050. Epub ahead of print.

    • The relationship between BRCA-associated breast cancer and age factors: an analysis of the Japanese HBOC consortium database.
    • Okano M, Nomizu T, Tachibana K, Nagatsuka M, Matsuzaki M, Katagata N, Ohtake T, Yokoyama S, Arai M, Nakamura S.
    • J Hum Genet. 2020 Oct 12. doi: 10.1038/s10038-020-00849-y. Epub ahead of print.

    • RNA-Seq Analysis Is a Useful Tool in Variant Classification.
    • Karam R, LaDuca H, Richardson ME, Pesaran T, Chao E.
    • JCO Precis Oncol. 2020;4:1226. doi: 10.1200/PO.20.00310. Epub 2020 Oct 9.

    Related:

    Letter, Reply:

    Reply to R. Karam et al.

    Original research:

    Functional RNA Studies Are a Useful Tool in Variant Classification but Must Be Used With Caution: A Case Study of One BRCA2 Variant.

    • LitAlert ~~ GeneLit.com

    • Bilateral Disease Common Among Slovenian CHEK2-Positive Breast Cancer Patients.
    • Nizic-Kos T, Krajc M, Blatnik A, Stegel V, Skerl P, Novakovic S, Gazic B, Besic N.
    • Ann Surg Oncol. 2020 Oct 8. doi: 10.1245/s10434-020-09178-y. Epub ahead of print.

    • Tumor and germline next generation sequencing in high grade serous cancer: experience from a large population-based testing program.
    • Care M, McCuaig J, Clarke B, Grenier S, Kim RH, Rouzbahman M, Stickle N, Bernardini M, Stockley TL.
    • Mol Oncol. 2020 Oct 8. doi: 10.1002/1878-0261.12817. Epub ahead of print.

    • Effect of germline mutations in homologous recombination repair genes on overall survival of patients with pancreatic adenocarcinoma.
    • Yadav S, Kasi PM, Bamlet WR, Ho TP, Polley EC, Hu C, Hart SN, Rabe KG, Boddicker NJ, Gnanaolivu RD, Lee KY, Lindstrom T, Petersen GM, Couch FJ, McWilliams RR.
    • Clin Cancer Res. 2020 Oct 7:clincanres.1788.2020. doi: 10.1158/1078-0432.CCR-20-1788. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Targeted sequencing of crucial cancer causing genes of breast cancer in Saudi patients.
    • Alanazi M, Parine NR, Shaik JP, Al Naeem A, Aldhaian S.
    • Saudi J Biol Sci. 2020 Oct;27(10):2651-2659. doi: 10.1016/j.sjbs.2020.05.047. Epub 2020 Jun 6.

    • Frequency and molecular characteristics of PALB2-associated cancers in Russian patients.
    • Preobrazhenskaya EV, Shleykina AU, Gorustovich OA, Martianov AS, Bizin IV, Anisimova EI, Sokolova TN, Chuinyshena SA, Kuligina ES, Togo AV, Belyaev AM, Ivantsov AO, Sokolenko AP, Imyanitov EN.
    • Int J Cancer. 2020 Sep 30. doi: 10.1002/ijc.33317. Epub ahead of print.

    • Effects of germline and somatic events in candidate BRCA-like genes on breast-tumor signatures.
    • Bodily WR, Shirts BH, Walsh T, Gulsuner S, King MC, Parker A, Roosan M, Piccolo SR.
    • PLoS One. 2020 Sep 30;15(9):e0239197. doi: 10.1371/journal.pone.0239197.

    • Impact of mutations in homologous recombination repair genes on treatment outcomes for metastatic castration resistant prostate cancer.
    • Carlson AS, Acevedo RI, Lim DM, Gulati R, Gawne A, Sokolova AO, Cheng HH, Nelson PS, Montgomery RB, Yu EY, Schweizer MT.
    • PLoS One. 2020 Sep 30;15(9):e0239686. doi: 10.1371/journal.pone.0239686.

    • Clinicopathological Features and Outcomes in Individuals with Breast Cancer and ATM, CHEK2, or PALB2 Mutations.
    • Bergstrom C, Pence C, Berg J, Partain N, Sadeghi N, Mauer C, Pirzadeh-Miller S, Gao A, Li H, Unni N, Syed S.
    • Ann Surg Oncol. 2020 Sep 29. doi: 10.1245/s10434-020-09158-2. Epub ahead of print.