Category: Genetic Testing

LitAlert ~~ GeneLit.com

    • Multigene Panel Testing Yields High Rates of Clinically Actionable Variants Among Patients With Colorectal Cancer.
    • Coughlin SE, Heald B, Clark DF, Nielsen SM, Hatchell KE, Esplin ED, Katona BW.
    • JCO Precis Oncol. 2022 Nov [12];6:e2200517. doi: 10.1200/PO.22.00517.

    • Rare MYC-N11S germline mutation indicative of inherited breast cancer in a multigeneration family.
    • Budurlean L, Baker M, Broach J.
    • BMJ Case Rep. 2022 Nov 11;15(11):e251336. doi: 10.1136/bcr-2022-251336.
    • Case report

    • Systematic mapping review of guidelines for BRCA1/2 genetic testing globally: investigating geographic and regional disparities in health equity for women and families at risk for hereditary ovarian cancer.
    • Hughes BN, Jorgensen KA, Cummings S, Morah D, Krause K, Rauh-Hain JA, Herzog TJ.
    • Int J Gynecol Cancer. 2022 Nov 11:ijgc-2022-003913. doi: 10.1136/ijgc-2022-003913. Epub ahead of print.
    • Review

    • Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer.
    • Holowatyj AN, Washington MK, Tavtigian SV, Eng C, Horton C.
    • JAMA Oncol. 2022 Nov 11. doi: 10.1001/jamaoncol.2022.5425. Epub ahead of print.

    • Genetic Testing Proves Significant in Identifying Somatic and Germline Mutations in Prostate Cancer.
    • Hollasch M, Antonarakis ES.
    • OncLive. 2022 Nov 11.

    • Prostate Cancer Has High Rate of Actionable Mutations, Underscoring Need for Testing.
    • Rosa K, Antonarakis ES.
    • OncLive. 2022 Nov 11.

    • Dr. Antonarakis on Therapeutic Agents for Select Patients With mCRPC.
    • Antonarakis ES.
    • OncLive. OncLive TV. 2022 Nov 11.

    • Dr. Shore on the Importance of Genetic Testing in Prostate Cancer.
    • Shore N.
    • OncLive. OncLive TV. 2022 Nov 11.

    • Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center.
    • Poliani L, Greco L, Barile M, Buono AD, Bianchi P, Basso G, Giatti V, Genuardi M, Malesci A, Laghi L; Alliance Against Cancer.
    • ESMO Open. 2022 Nov 7;7(6):100607. doi: 10.1016/j.esmoop.2022.100607. Epub ahead of print.

    • Use of Breast Cancer Risk Factors to Identify Risk-Adapted Starting Age of Screening in China.
    • Zheng Y, Dong X, Li J, Qin C, Xu Y, Wang F, Cao W, Xia C, Yu Y, Zhao L, Wu Z, Luo Z, Chen W, Li N, He J.
    • JAMA Netw Open. 2022 Nov 1;5(11):e2241441. doi: 10.1001/jamanetworkopen.2022.41441.

    Related:

    •• Commentary:

    Risk-Based Approaches to Breast Cancer Screening in China.

    • Use of Breast Cancer Risk Factors to Identify Risk-Adapted Starting Age of Screening in China.
    • Zheng Y, Dong X, Li J, Qin C, Xu Y, Wang F, Cao W, Xia C, Yu Y, Zhao L, Wu Z, Luo Z, Chen W, Li N, He J.
    • JAMA Netw Open. 2022 Nov 1;5(11):e2241441. doi: 10.1001/jamanetworkopen.2022.41441.

    Related:

    •• Commentary:

    Risk-Based Approaches to Breast Cancer Screening in China.

    • LitAlert ~~ GeneLit.com

    • Implementation of multigene panel testing for breast and ovarian cancer in South Africa: a step towards excellence in Oncology for the public sector.
    • Van Der Merwe NC, Ntaita KS, Stofberg H, Combrink HM, Oosthuizen J, Kotze MJ.
    • Front Oncol. 2022 Nov 8;12:938561. doi: 10.3389/fonc.2022.938561.

    • Germline Pathogenic Variants Associated with Ovarian Cancer: A Historical Overview.
    • Lund Johansen E, Fribert Thusgaard C, Thomassen M, Eriksen Boonen S, Jochumsen KM.
    • Gynecol Oncol Rep. 2022 Nov 8;101105. doi: 10.1016/j.gore.2022.101105.

    • LitAlert ~~ GeneLit.com

    • Interdisciplinary risk counseling for hereditary breast and ovarian cancer: real-world data from a specialized center.
    • Zang B, Helms M, Besch L, Kalmbach N, Stegen S, Blohmer JU, Speiser D.
    • Arch Gynecol Obstet. 2022 Oct 28. doi: 10.1007/s00404-022-06819-3. Epub ahead of print.

    • Latinx attitudes, barriers, and experiences with genetic counseling and testing: A systematic review.
    • Dron HA, Bucio D, Young JL, Tabor HK, Cho MK.
    • J Genet Couns. 2022 Oct 27. doi: 10.1002/jgc4.1632. Epub ahead of print.

    • Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline.
    • Sessa C, Balmaña J, Bober SL, Cardoso MJ, Colombo N, Curigliano G, Domchek SM, Evans DG, Fischerova D, Harbeck N, Kuhl C, Lemley B, Levy-Lahad E, Lambertini M, Ledermann JA, Loibl S, Phillips KA, Shimon P; ESMO Guidelines Committee.
    • Ann Oncol. 2022 Oct 19:S0923-7534(22)04193-X. doi: 10.1016/j.annonc.2022.10.004. Epub ahead of print.

    • Hereditary Breast and Ovarian Cancer Service in Sparsely Populated Western Pomerania.
    • Felbor U, Bülow R, Schmutzler RK, Rath M.
    • Healthcare (Basel). 2022 Oct 13;10(10):2021. doi: 10.3390/healthcare10102021.

    • Application of Multigene Panels Testing for Hereditary Cancer Syndromes.
    • Bilyalov A, Nikolaev S, Shigapova L, Khatkov I, Danishevich A, Zhukova L, Smolin S, Titova M, Lisica T, Bodunova N, Shagimardanova E, Gusev O.
    • Biology (Basel). 2022 Oct 5;11(10):1461. doi: 10.3390/biology11101461.

    • LitAlert ~~ GeneLit.com

    • Genetic Testing Among Patients with High-Risk Breast, Ovarian, Pancreatic, and Prostate Cancers.
    • Clark NM, Roberts EA, Fedorenko C, Sun Q, Dubard-Gault M, Handford C, Yung R, Cheng HH, Sham JG, Norquist BM, Flanagan MR.
    • Ann Surg Oncol. 2022 Nov 5. doi: 10.1245/s10434-022-12755-y. Epub ahead of print.

    • Real-World Study of Regional Differences in Patient Demographics, Clinical Characteristics, and BRCA1/2 Mutation Testing in Patients with Human Epidermal Growth Factor Receptor 2-Negative Advanced Breast Cancer in the United States, Europe, and Israel.
    • Mahtani R, Niyazov A, Lewis K, Rider A, Massey L, Arondekar B, Lux MP.
    • Adv Ther. 2022 Oct 28. doi: 10.1007/s12325-022-02302-2. Epub ahead of print.

    • Evaluation of family history in individuals with heterozygous BRCA pathogenic variants diagnosed with breast or ovarian cancer in a single center in Italy.
    • Negri S, De Ponti E, Sina FP, Sala E, Dell'Oro C, Roversi G, Lazzarin S, Delle Marchette M, Inzoli A, Toso C, Fumagalli S, Campanella M, Kotsopoulos J, Fruscio R.
    • Mol Genet Genomic Med. 2022 Oct 28:e2071. doi: 10.1002/mgg3.2071. Epub ahead of print.

    • 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.

    • LitAlert ~~ GeneLit.com

    • Laboratory Cross-Comparison and Ring Test Trial for Tumor BRCA Testing in a Multicenter Epithelial Ovarian Cancer Series: The BORNEO GEICO 60-0 Study.
    • Garcia-Casado Z, Oaknin A, Mendiola M, Alkorta-Aranburu G, Antunez-Lopez JR, Moreno-Bueno G, Palacios J, Yubero A, Marquez R, Gallego A, Sanchez-Heras AB, Lopez-Guerrero JA, Perez-Segura C, Barretina-Ginesta P, Alarcon J, Gaba L, Marquez A, Matito J, Cueva J, Palacio I, Iglesias M, Arcusa A, Sanchez-Lorenzo L, Guerra-Alia E, Romero I, Vivancos A.
    • J Pers Med. 2022 Nov 4;12(11):1842. doi: 10.3390/jpm12111842.

    • 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.

    • BRCA1/2 Mutation Testing in Patients with HER2-Negative Advanced Breast Cancer: Real-World Data from the United States, Europe, and Israel.
    • Mahtani R, Niyazov A, Arondekar B, Lewis K, Rider A, Massey L, Lux MP.
    • Cancers (Basel). 2022 Nov 2;14(21):5399. doi: 10.3390/cancers14215399.

    • 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.

    • Olaparib Efficacy in Patients with Metastatic Castration-resistant Prostate Cancer and BRCA1, BRCA2 or ATM Alterations Identified by Testing Circulating Tumor DNA.
    • Matsubara N, de Bono J, Olmos D, Procopio G, Kawakami S, Ürün Y, van Alphen R, Flechon A, Carducci MA, Choi YD, Hotte SJ, Korbenfeld E, Kramer G, Agarwal N, Chi KN, Dearden S, Gresty C, Kang J, Poehlein C, Harrington EA, Hussain M.
    • Clin Cancer Res. 2022 Nov 1:CCR-21-3577. doi: 10.1158/1078-0432.CCR-21-3577. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • BRCA Mutations, HRD Status Drive PARP Inhibitor Selection in Ovarian Cancer Maintenance.
    • Scott R, Rimel BJ.
    • OncLive. 2022 Nov 4.

    • 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.

    • Exquisitely Platinum-Sensitive Triple-Negative Breast Cancer, Time for BRCA Methylation Testing?
    • Tan TJ, Fink JL, Tay TK, Jaradi B, Stone N, Waring P, Koo KM, Tan PH, Tan DS, Dent RA.
    • JCO Precis Oncol. 2022 Nov;6:e2200309. doi: 10.1200/PO.22.00309.
    • Case report

    • 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

    • LitAlert ~~ GeneLit.com

    • What happens in the long term: Uptake of cancer surveillance and prevention strategies among at-risk relatives with pathogenic variants detected via cascade testing.
    • Frey MK, Ahsan MD, Badiner N, Lin J, Narayan P, Nitecki R, Rauh-Hain JA, Moss H, Fowlkes RK, Thomas C, Bergeron H, Christos P, Levi SR, Blank SV, Holcomb K, Cantillo E, Sharaf RN, Lipkin S, Offit K, Chapman-Davis E.
    • Cancer. 2022 Oct 27. doi: 10.1002/cncr.34482. Epub ahead of print.

    • Biomarkers beyond BRCA: promising combinatorial treatment strategies in overcoming resistance to PARP inhibitors.
    • Chu YY, Yam C, Yamaguchi H, Hung MC.
    • J Biomed Sci. 2022 Oct 25;29(1):86. doi: 10.1186/s12929-022-00870-7.