Category: Genetic Testing

LitAlert ~~ GeneLit.com

    • Risk-Stratified Approach to Breast Cancer Screening in Canada: Women’s Knowledge of the Legislative Context and Concerns about Discrimination from Genetic and Other Predictive Health Data.
    • Alarie S, Hagan J, Dalpé G, Faraji S, Mbuya-Bienge C, Nabi H, Pashayan N, Brooks JD, Dorval M, Chiquette J, Eloy L, Turgeon A, Lambert-Côté L, Paquette JS, Walker MJ, Lapointe J, Granados Moreno P, Blackmore K, Wolfson M, Broeders M, The PERSPECTIVE I&I Study Group, Knoppers BM, Chiarelli AM, Simard J, Joly Y.
    • J Pers Med. 2021 Jul 27;11(8):726. doi: 10.3390/jpm11080726.

    • Polygenic Breast Cancer Risk for Women Veterans in the Million Veteran Program.
    • Minnier J, Rajeevan N, Gao L, Park B, Pyarajan S,Spellman P; VA Million Veteran Program; Haskell SG, Brandt CA, Luoh SW.
    • JCO Precis Oncol. 2021;5:1178. doi: 10.1200/PO.20.00541. Epub 2021 Jul 21.

    • Follow-up of tissue genomics in BRCA1/2 carriers who underwent prophylactic surgeries.
    • Kotoula V, Papadopoulou K, Tikas I, Fostira F, Vrettou E, Chrisafi S, Fountzilas E, Koliou GA, Apostolou P, Papazisis K, Zaramboukas T, Asimaki-Vlachopoulou A, Miliaras S, Ananiadis A, Poulios C, Natsiopoulos I, Tsiftsoglou A, Demiri E, Fountzilas G.
    • Breast Cancer. 2021 Jul 24. doi: 10.1007/s12282-021-01276-3. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Evaluation and comparison of hereditary Cancer guidelines in the population.
    • Ritchie JB, Bellcross C, Allen CG, Frey L, Morrison H, Schiffman JD, Welch BM.
    • Hered Cancer Clin Pract. 2021 Jul 17;19:31. doi: 10.1186/s13053-021-00188-9.

    • Expanding the search for germline pathogenic variants for breast cancer. How far should we go and how high should we jump? The missed opportunity!
    • Abdel-Razeq H.
    • Oncol Rev. 2021 Jun 24;15(1):544. doi: 10.4081/oncol.2021.544.

    • Evaluation and comparison of hereditary Cancer guidelines in the population.
    • Ritchie JB, Bellcross C, Allen CG, Frey L, Morrison H, Schiffman JD, Welch BM.
    • Hered Cancer Clin Pract. 2021 Jul 17;19:31. doi: 10.1186/s13053-021-00188-9.

    • LitAlert ~~ GeneLit.com

    • Uptake and acceptability of a mainstreaming model of hereditary cancer multigene panel testing among patients with ovarian, pancreatic, and prostate cancer.
    • Hamilton JG, Symecko H, Spielman K, Breen K, Mueller R, Catchings A, Trottier M, Salo-Mullen EE, Shah I, Arutyunova A, Batson M, Gebert R, Pundock S, Schofield E, Offit K, Stadler ZK, Cadoo K, Carlo MI, Narayan V, Reiss KA, Robson ME, Domchek SM.
    • Genet Med. 2021 Jul 13. doi: 10.1038/s41436-021-01262-2. Epub ahead of print.

    • Success Factors and Barriers in Combining Personalized Medicine and Patient Centered Care in Breast Cancer. Results from a Systematic Review and Proposal of Conceptual Framework.
    • Giulio de Belvis A, Pellegrino R, Castagna C, Morsella A, Pastorino R, Boccia S.
    • J Pers Med. 2021 Jul 13;11(7):654. doi: 10.3390/jpm11070654.

    • Prevalence of Germline Alterations on Targeted Tumor-Normal Sequencing of Esophagogastric Cancer.
    • Ku GY, Kemel Y, Maron SB, Chou JF, Ravichandran V, Shameer Z, Maio A, Won ES, Kelsen DP, Ilson DH, Capanu M, Strong VE, Molena D, Sihag S, Jones DR, Coit DG, Tuvy Y, Cowie K, Solit DB, Schultz N, Hechtman JF, Offit K, Joseph V, Mandelker D, Janjigian YY, Stadler ZK.
    • JAMA Netw Open. 2021 Jul 1;4(7):e2114753. doi: 10.1001/jamanetworkopen.2021.14753.

    Related:

    Commentary:

    Expanding Germline Testing to All Patients With Esophagogastric Cancers-Easy to Do, Harder to Justify.

    Press: Gastric Cancer Cases Frequently Harbor Genetic Risk Variants, Suggesting Germline Testing. (GenomeWeb)

    • LitAlert ~~ GeneLit.com

    • Case-case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer.
    • Johnatty SE, Pesaran T, Dolinsky J, Yussuf A, La Duca H, James PA, Mara TAO, Spurdle AB.
    • Hum Mutat. 2021 Jul 10. doi: 10.1002/humu.24256. Epub ahead of print.

    • Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history.
    • Salmi F, Maachi F, Tazzite A, Aboutaib R, Fekkak J, Azeddoug H, Jouhadi H.
    • PLoS One. 2021 Jul 9;16(7):e0254101. doi: 10.1371/journal.pone.0254101.

    • Assistance by routine CT features combined with 3D texture analy- sis in the diagnosis of BRCA gene mutation status in advanced epithelial ovarian cancer.
    • LI MR, wei W, Liu MZ, Zhou Y, Ya-qiong GE.
    • Front Oncol. 2021 Jul 8;10:716467. doi: 10.3389/fonc.2021.696780.

    • LitAlert ~~ GeneLit.com

    • Polygenic risk in familial breast cancer: Changing the dynamics of communicating genetic risk.
    • Gregory G, Gupta KD, Meiser B, Barlow-Stewart K, Geelan-Small P, Kaur R, Scheepers-Joynt M, McInerny S, Taylor S, Antill Y, Salmon L, Smyth C, Young MA, James PA, Yanes T.
    • J Genet Couns. 2021 Jul 5. doi: 10.1002/jgc4.1458. Epub ahead of print.

    • Genetic Testing Challenges in Oncology: Inaccurate Patient Claims Complicate Cancer Risk Management.
    • Ray T.
    • Precision Oncology News. Biomarkers. BRCA. 2021 Jun 30.

    • BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients.
    • Montalban G, Bonache S, Bach V, Gisbert-Beamud A, Tenés A, Moles-Fernández A, López-Fernández A, Carrasco E, Balmaña J, Diez O, Gutiérrez-Enríquez S.
    • Cancer Genet. 2021 Jun 17. doi: 10.1016/j.cancergen.2021.06.003. Epub ahead of print.

    • Mutations in BRCA-related breast and ovarian cancer in the South African Indian population: A descriptive study.
    • Combrink HM, Oosthuizen J, Visser B, Chabilal N, Buccimazza I, Foulkes WD, van der Merwe NC.
    • Cancer Genet. 2021 Jun 15;258-259:1-6. doi: 10.1016/j.cancergen.2021.06.002. Epub ahead of print.

    • Knowledge, views and expectations for cancer polygenic risk testing in clinical practice: a cross-sectional survey of health professionals.
    • Smit AK, Sharman AR, Espinoza D, Wallingford C, Young MA, Dunlop K, Tiller J, Newson AJ, Meiser B, Cust AE, Yanes T.
    • Clin Genet. 2021 Jul 3. doi: 10.1111/cge.14025. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Evaluation of two population screening programmes for BRCA1/2 founder mutations in the Australian Jewish community: a protocol paper.
    • Cousens NE, Tiller J, Meiser B, Barlow-Stewart K, Rowley S, Ko YA, Mahale S, Campbell IG, Kaur R, Bankier A, Burnett L, Jacobs C, James PA, Trainer A, Neil S, Delatycki MB, Andrews L.
    • BMJ Open. 2021 Jun 25;11(6):e041186. doi: 10.1136/bmjopen-2020-041186.

    • Challenges and Opportunities in Engaging Primary Care Providers in BRCA Testing: Results from the BFOR Study.
    • Pace LE, Tung N, Lee YS, Hamilton JG, Gabriel C, Revette A, Raja S, Jenkins C, Braswell A, Morgan K, Levin J, Block J, Domchek SM, Nathanson K, Symecko H, Spielman K, Karlan B, Kamara D, Lester J, Offit K, Garber JE, Keating NL.
    • J Gen Intern Med. 2021 Jun 25. doi: 10.1007/s11606-021-06970-8. Epub ahead of print.

    • Assessing Genetic Variants in Matched Biocompartments From Patients With Serous Ovarian Cancer.
    • Sanders BE, Ku L, Walker P, Bitler BG.
    • Technol Cancer Res Treat. 2021 Jan-Dec [First Published June 25, 2021.];20:15330338211027917. doi: 10.1177/15330338211027917.

    • Comprehensive Breast Cancer Risk Assessment for CHEK2 and ATM Pathogenic Variant Carriers Incorporating a Polygenic Risk Score and the Tyrer-Cuzick Model.
    • Gallagher S, Hughes E, Kurian AW, Domchek SM, Garber J, Probst B, Morris B, Tshiaba P, Meek S, Rosenthal E, Roa B, Slavin TP, Wagner S, Weitzel J, Gutin A, Lanchbury JS, Robson M.
    • JCO Precis Oncol. 2021;5:1073. doi: 10.1200/PO.20.00484. Epub 2021 Jun 24.

    • The evolving role of germline genetic testing and management in prostate cancer: Report from the Princess Margaret Cancer Centre International Retreat.
    • Clark R, Kenk M, McAlpine K, Thain E, Farncombe KM, Pritchard CC, Nussbaum R, Wyatt AW, de Bono J, Vesprini D, Bombard Y, Lorentz J, Narod S, Kim R, Fleshner N.
    • Can Urol Assoc J. 2021 Jun 22. doi: 10.5489/cuaj.7383. Epub ahead of print.