Category: Genetic Testing

LitAlert ~~ GeneLit.com

    • How the Analysis of the Pathogenetic Variants of DDR Genes Will Change the Management of Prostate Cancer Patients.
    • Sciarra A, Frisenda M, Bevilacqua G, Gentilucci A, Cattarino S, Mariotti G, Del Giudice F, Di Pierro GB, Viscuso P, Casale P, I. Chung BI, Autorino R, Crivellaro S, Salciccia S.
    • Int J Mol Sci. 2022 Dec 30;24(1):674. doi: 10.3390/ijms24010674.

    • 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.

    • LitAlert ~~ GeneLit.com

    • Promoters of BRCA testing under insurance coverage for non-metastatic breast cancer patients in Japan: a retrospective cohort study.
    • Taji T, Odan N, Kataoka Y, Ikeda M, Yamaguchi A, Suzuki E, Suwa H.
    • Breast Cancer. 2022 Dec 22. doi: 10.1007/s12282-022-01424-3. Epub ahead of print.

    • Genetic testing women with newly diagnosed breast cancer: What criteria are the most predictive of a positive test?
    • Metcalfe KA, Narod SA, Eisen A, Poll A, Zamani N, McCready D, Cil TD, Wright FC, Lerner-Ellis J, McCuaig J, Graham T, Sun P, Akbari MR.
    • Cancer Med. 2022 Dec 21. doi: 10.1002/cam4.5515. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Development and validation of genome-wide polygenic risk scores for predicting breast cancer incidence in Japanese females: a population-based case-cohort study.
    • Ohbe H, Hachiya T, Yamaji T, Nakano S, Miyamoto Y, Sutoh Y, Otsuka-Yamasaki Y, Shimizu A, Yasunaga H, Sawada N, Inoue M, Tsugane S, Iwasaki M; for the Japan Public Health Center-based Prospective Study Group.
    • Breast Cancer Res Treat. 2022 Dec 20. doi: 10.1007/s10549-022-06843-6. Epub ahead of print.

    • Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo-ECAG) ovarian study.
    • Abdel-Razeq H, Al-Azzam K, Elemian S, Abu-Fares H, Abu Sheikha A, Bani Hani H, Bater R, Sharaf B, Heald B, Esplin ED, Nielsen SM, Alkyam M, Abujamous L, Al-Attary A.
    • Mol Genet Genomic Med. 2022 Dec 19:e2125. doi: 10.1002/mgg3.2125. Epub ahead of print.

    • Informational needs of individuals from BRCA-harboring families: a systematic review and content analysis.
    • Park SY, Kim Y, Kim S, Katapodi MC.
    • Genet Med. 2022 Dec 18:S1098-3600(22)01068-1. doi: 10.1016/j.gim.2022.100001. Epub ahead of print.

    • Predictive factors for relapse in triple-negative breast cancer patients without pathological complete response after neoadjuvant chemotherapy.
    • Toss A, Venturelli M, Civallero M, Piombino C, Domati F, Ficarra G, Combi F, Cabitza E, Caggia F, Barbieri E, Barbolini M, Moscetti L, Omarini C, Piacentini F, Tazzioli G, Dominici M, Cortesi L.
    • Front Oncol. 2022 Dec 1;12:1016295. doi: 10.3389/fonc.2022.1016295.

    • LitAlert ~~ GeneLit.com

    • Development and Psychometric Evaluation of Healthcare Access Measures among Women with Ovarian Cancer.
    • Akinyemiju T, Joshi A, Deveaux A, Wilson LE, Chen D, Meernik C, Bevel M, Gathings J, Fish L, Barrett N, Worthy V, Boyce X, Martin K, Robinson C, Pisu M, Liang M, Potosky A, Huang B, Ward K, Schymura MJ, Berchuck A, Reeve BB.
    • Cancers (Basel). 2022 Dec 19;14(24):6266. doi: 10.3390/cancers14246266.

    • Dr. Rimel on the Importance of BRCA and HRD Testing in Ovarian Cancer.
    • Rimel BJ.
    • OncLive. OncLive TV. 2022 Dec 19.

    • Germline-focused analysis of tumour-detected variants in 49,264 cancer patients: ESMO Precision Medicine Working Group recommendations.
    • Kuzbari Z, Bandlamudi C, Loveday C, Garrett A, Mehine M, George A, Hanson H, Snape K, Kulkarni A, Allen S, Jezdic S, Ferrandino R, Westphalen CB, Castro E, Rodon J, Mateo J, Burghel GJ, Berger MF, Mandelker D, Turnbull C.
    • Ann Oncol. 2022 Dec 15:S0923-7534(22)04771-8. doi: 10.1016/j.annonc.2022.12.003. Epub ahead of print.

    • Germline BRCA2 variants in advanced pancreatic acinar cell carcinoma: A case report and review of literature.
    • Lee CL, Holter S, Borgida A, Dodd A, Ramotar S, Grant R, Wasson K, Elimova E, Jang RW, Moore M, Kim TK, Khalili K, Moulton CA, Gallinger S, O'Kane GM, Knox JJ.
    • World J Gastroenterol. 2022 Dec 7;28(45):6421-6432. doi: 10.3748/wjg.v28.i45.6421.

    • LitAlert ~~ GeneLit.com

    • Germline findings in patients with advanced malignancies screened with paired blood–tumour testing for personalised treatment approaches.
    • Roggia C, Armeanu-Ebinger S, Gschwind A, Seibel-Kelemen O, Hertler S, Faust U, Liebmann A, Haack TB, Neumann M, Bonzheim I, Forschner A, Kopp HG, Herster F, Hartkopf A, Bitzer M, Malek NP, Brecht IB, Ruhm K, Möller Y, Löwenheim H, Ossowski S, Rieß OH, Schroeder C.
    • Eur J Cancer. 2022 Nov 8 [2023 Jan 1];179:48-55. doi: 10.1016/j.ejca.2022.11.003. Epub ahead of print.

    • Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease.
    • Jiao Y, Truong T, Eon-Marchais S, Mebirouk N, Caputo SM, Dondon MG, Karimi M, Le Gal D, Beauvallet J, Le Floch É, Dandine-Roulland C, Bacq-Daian D, Olaso R, Albuisson J, Audebert-Bellanger S, Berthet P, Bonadona V, Buecher B, Caron O, Cavaillé M, Chiesa J, Colas C, Collonge-Rame MA, Coupier I, Delnatte C, De Pauw A, Dreyfus H, Fert-Ferrer S, Gauthier-Villars M, Gesta P, Giraud S, Gladieff L, Golmard L, Lasset C, Lejeune-Dumoulin S, Léoné M, Limacher JM, Lortholary A, Luporsi É, Mari V, Maugard CM, Mortemousque I, Mouret-Fourme E, Nambot S, Noguès C, Popovici C, Prieur F, Pujol P, Sevenet N, Sobol H, Toulas C, Uhrhammer N, Vaur D, Venat L, Boland-Augé A, Guénel P, Deleuze JF, Stoppa-Lyonnet D, Andrieu N, Lesueur F.
    • Eur J Cancer. 2022 Nov 13 [2023 Jan 1];179:76-86. doi: 10.1016/j.ejca.2022.11.007. Epub ahead of print.

    • Next-generation sequencing in breast pathology: real impact on routine practice over a decade since its introduction.
    • Nourieh M, Vibert R, Saint-Ghislain M, Cyrta J, Vincent-Salomon A.
    • Histopathology. 2023 Jan;82(1):162-169. doi: 10.1111/his.14794.

    • Cost-effectiveness of PARP inhibitors in malignancies: A systematic review.
    • Ding H, He C, Tong Y, Fang Q, Mi X, Chen L, Xin W, Fang L.
    • PLoS One. 2022 Dec 15;17(12):e0279286. doi: 10.1371/journal.pone.0279286.

    • The performance of multi-gene panels for breast/ovarian cancer predisposition.
    • Nunziato M, Luca Scaglione G, Di Maggio F, Nardelli C, Capoluongo E, Salvatore F.
    • Clin Chim Acta. 2022 Dec 12:S0009-8981(22)01409-7. doi: 10.1016/j.cca.2022.12.007. Epub ahead of print.

    • RE: Heterozygous BRCA1/BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.
    • Evans DG, Woodward ER.
    • J Natl Cancer Inst. 2022 Dec 10:djac223. doi: 10.1093/jnci/djac223. Epub ahead of print.

    Related:

    •• Letter, Reply:

    Reply to Evans and Woodward.

    •• Original research:

    Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.

    • Understanding cancer genetic risk assessment motivations in a remote tailored risk communication and navigation intervention randomized controlled trial.
    • Le Compte CG, Lu SE, Ani J, McDougall J, Walters ST, Toppmeyer D, Boyce TW, Stroup A, Paddock L, Grumet S, Lin Y, Heidt E, Kinney AY.
    • Health Psychol Behav Med. 2022 Dec 9;10(1):1190-1215. doi: 10.1080/21642850.2022.2150623.

    Related:

    •• Identifier: NCT03326713: Genetic Risk Assessment for Cancer Education and Empowerment (GRACE) Project (GRACE). (ClinicalTrials.gov . Accessed 2022 Dec 16.)

    • Genetic medicine in companion diagnostics of germline BRCA testing of Japanese pancreatic cancer patients.
    • Matsubayashi H, Todaka A, Kawakami T, Hamauchi S, Yokota T, Higashigawa S, Kiyozumi Y, Harada R, Kado N, Nishimura S, Ishiwatari H, Sato J, Niiya F, Ono H, Sugiura T, Sasaki K, Yasui H, Yamazaki K.
    • J Hum Genet. 2022 Dec 8. doi: 10.1038/s10038-022-01097-y. Epub ahead of print.

    • Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.
    • Bonfiglio F, Lasorsa VA, Cantalupo S, D'Alterio G, Aievola V, Boccia A, Ardito M, Furini S, Renieri A, Morini M, Stainczyk S, Westermann F, Paolella G, Eva A, Iolascon A, Capasso M.
    • EBioMedicine. 2022 Dec 6;87:104395. doi: 10.1016/j.ebiom.2022.104395. Epub ahead of print.

    • Investigating the presentation of uncertainty in an icon array: A randomized trial.
    • Recchia G, Lawrence ACE, Freeman ALJ.
    • PEC Innov. 2022 Dec;1:None. doi: 10.1016/j.pecinn.2021.100003.

    • LitAlert ~~ GeneLit.com

    • Pathogenic Variant Spectrum in Breast Cancer Risk Genes in Finnish Patients.
    • Nurmi AK, Suvanto M, Dennis J, Aittomäki K, Blomqvist C, Nevanlinna H.
    • Cancers (Basel). 2022 Dec 14;14(24):6158. doi: 10.3390/cancers14246158.

    • Clinical Impact of Next-Generation Sequencing Multi-Gene Panel Highlighting the Landscape of Germline Alterations in Ovarian Cancer Patients.
    • Gurioli G, Tedaldi G, Farolfi A, Petracci E, Casanova C, Comerci G, Danesi R, Arcangeli V, Ravegnani M, Calistri D, Zampiga V, Cangini I, Fonzi E, Virga A, Tassinari D, Rosati M, Ulivi P, De Giorgi U.
    • Int J Mol Sci. 2022 Dec 13;23(24):15789. doi: 10.3390/ijms232415789.

    • Real World Cost-Effectiveness Analysis of Population Screening for BRCA Variants among Ashkenazi Jews Compared with Family History-Based Strategies.
    • Michaelson-Cohen R, Cohen MJ, Cohen C, Greenberg D, Shmueli A, Lieberman S, Tomer A, Levy-Lahad E, Lahad A.
    • Cancers (Basel). 2022 Dec 12;14(24):6113. doi: 10.3390/cancers14246113.

    • Molecular profiling of male breast cancer by multigene panel testing: implications for precision oncology.
    • Valentini V, Silvestri V, Bucalo A, Conti G, Karimi M, Di Francesco L, Pomati G, Mezi S, Cerbelli B, Pignataro MG, Nicolussi A, Coppa A, D'Amati G, Giannini G, Ottini L.
    • Front Oncol. 2022 Dec 12;12:1092201. doi: 10.3389/fonc.2022.1092201.

    • Myriad Genetics Generates More Data on its PRS's Ability to Identify Who Will Develop Breast Cancer.
    • Ray F.
    • Precision Oncology News. 2022 Dec 12.

    • Evaluation of out-of-pocket pay genetic testing in a publicly funded healthcare system.
    • Grant P, Cook CB, Langlois S, Nuk J, Mung S, Zhang Q; GenCOUNSEL Study, Lynd LD, Austin J, Elliott AM.
    • Clin Genet. 2022 Dec 11. doi: 10.1111/cge.14276. Epub ahead of print.

    • Cancer Moonshot 2.0, health equity and BRCA1/2 testing.
    • Sorscher S.
    • J Cancer Policy. 2022 Dec 8:100379. doi: 10.1016/j.jcpo.2022.100379. Epub ahead of print.
    • Letter

    • LitAlert ~~ GeneLit.com

    • BRCA-CRisk: A Contralateral Breast Cancer Risk Prediction Model for BRCA Carriers.
    • Sun J, Chu F, Pan J, Zhang Y, Yao L, Chen J, Hu L, Zhang J, Xu Y, Wang X, Cao W, Xie Y.
    • J Clin Oncol. 2022 Dec 8:JCO2200833. doi: 10.1200/JCO.22.00833. Epub ahead of print.

    • The role of next-generation sequencing in the examination of signaling genes in Brca1/2-negative breast cancer cases.
    • Cine N, Ugurtas C, Gokbayrak M, Aydin D, Demir G, Kuru S, Sunnetci-Akkoyunlu D, Eren-Keskin S, Simsek T, Cabuk D, Aksu MG, Canturk NZ, Savli H.
    • Ann Hum Genet. 2022 Dec 7. doi: 10.1111/ahg.12488. Epub ahead of print.