Category: Genetic Testing

LitAlert ~~ GeneLit.com

    • The Mutational Landscape of Early-Onset Breast Cancer: A Next-Generation Sequencing Analysis.
    • Andrikopoulou A, Chatzinikolaou S, Kyriopoulos I, Bletsa G, Kaparelou M, Liontos M, Dimopoulos MA, Zagouri F.
    • Front Oncol. 2022 Jan 21;10:797505. doi: 10.3389/fonc.2021.797505.

    • Remote AI Supported E-Multidisciplinary Oncology Conference in Breast Cancer as a Technology and Method to Optimize Outcomes in the Peripheries.
    • Mammas CS, Mamma AS, Papaxoinis G, Georgiou I.
    • Stud Health Technol Inform. 2022 Jan 14;289:309-312. doi: 10.3233/SHTI210921.

    • LitAlert ~~ GeneLit.com

    • Development and pilot testing of an online decision aid for women considering risk-stratified breast screening.
    • Lippey J, Keogh L, Campbell I, Mann GB, Forrest L.
    • J Community Genet. 2022 Jan 21. doi: 10.1007/s12687-021-00571-y. Epub ahead of print.

    • Characteristics and experiences of patients from a community-based and consumer-directed hereditary cancer population screening initiative.
    • Greve V, Odom K, Pudner S, Lamb NE, Cooper SJ, East K.
    • HGG Adv. 2021 Aug 24 [eCollection 2022 Jan 13];3(1):100055. doi: 10.1016/j.xhgg.2021.100055.

    • Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells.
    • Loke J, Alim I, Yam S, Klugman S, Xia LC, Gruber D, Tegay D, LaBella A, Onel K, Ostrer H.
    • HGG Adv. 2022 Jan 7;100085. doi: 10.1016/j.xhgg.2022.100085. Epub ahead of print.

    • Therapeutic implications of germline vulnerabilities in DNA repair for precision oncology.
    • Shah SM, Demidova EV, Lesh RW, Hall MJ, Daly MB, Meyer JE, Edelman MJ, Arora S.
    • Cancer Treat Rev. 2022 Jan 5;104:102337. doi: 10.1016/j.ctrv.2021.102337. Epub ahead of print.

    • The Value of Tyrer-Cuzick Versus Gail Risk Modeling in Predicting Benefit from Screening MRI in Breast Cancer.
    • Sevdalis A, Deng X, Bandyopadhyay D, McGuire KP.
    • Eur J Breast Health. 2021 Dec 30 [eCollection 2022 Jan];18(1):79-84. doi: 10.4274/ejbh.galenos.2021.2021-8-2.

    • LitAlert ~~ GeneLit.com

    • Case Report: a BRCA2 Mutation Identified through Next Generation Sequencing in a Birt-Hogg-Dubè Syndrome Family.
    • Bandini E, Cangini I, Arcangeli V, Ravegnani M, Andreotti V, Prisinzano G, Pastorino L, Martinelli G, Falcini F, Calistri D, Zampiga V, Danesi R.
    • Front Oncol. 2022 Jan 19;10:835346. doi: 10.3389/fonc.2022.835346.

    • Real-world homologous recombination repair mutation testing in metastatic castration-resistant prostate cancer in the USA, Europe and Japan.
    • Leith A, Ribbands A, Kim J, Last M, Barlow S, Yang L, Ghate SR.
    • Future Oncol. 2022 Jan 19. doi: 10.2217/fon-2021-1113. Epub ahead of print.

    • Clinician-Reported Impact of Germline Multigene Panel Testing on Cancer Risk Management Recommendations.
    • Horton C, Blanco K, Lo MT, Speare V, LaDuca H, Dolinsky J, Kurian AW.
    • JNCI Cancer Spectr. 2022 Jan 18; pkac002. doi: 10.1093/jncics/pkac002. eCollection 2022 Jan.

    • Racial and ethnic variation in multigene panel testing in a cohort of BRCA1/2-negative individuals who had genetic testing in a large urban comprehensive cancer center.
    • Tatineni S, Tarockoff M, Abdallah N, Purrington KS, Assad H, Reagle R, Petrucelli N, Simon MS.
    • Cancer Med. 2022 Jan 17. doi: 10.1002/cam4.4541. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Expression Profiling in Ovarian Cancer Reveals Coordinated Regulation of BRCA1/2 and Homologous Recombination Genes.
    • Custódio N, Savisaar R, Carvalho C, Bak-Gordon P, Ribeiro MI, Tavares J, Nunes PB, Peixoto A, Pinto C, Escudeiro C, Teixeira MR, Carmo-Fonseca M.
    • Biomedicines. 2022 Jan 18;10(2):199. doi: 10.3390/biomedicines10020199.

    • Clinician-Reported Impact of Germline Multigene Panel Testing on Cancer Risk Management Recommendations.
    • Horton C, Blanco K, Lo MT, Speare V, LaDuca H, Dolinsky J, Kurian AW.
    • JNCI Cancer Spectr. 2022 Jan 18; pkac002. doi: 10.1093/jncics/pkac002. eCollection 2022 Jan.

    • Racial and ethnic variation in multigene panel testing in a cohort of BRCA1/2-negative individuals who had genetic testing in a large urban comprehensive cancer center.
    • Tatineni S, Tarockoff M, Abdallah N, Purrington KS, Assad H, Reagle R, Petrucelli N, Simon MS.
    • Cancer Med. 2022 Jan 17. doi: 10.1002/cam4.4541. Epub ahead of print.

    • Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.
    • Eygelaar D, van Rensburg EJ, Joubert F.
    • Sci Rep. 2022 Jan 17;12(1):802. doi: 10.1038/s41598-022-04791-1.

    • LitAlert ~~ GeneLit.com

    • Long-term tumour dormancy in a BRCA1 heterozygote.
    • Amuzu S, Fu L, Demko N, Rivera B, Domecq C, de Kock L, Hamel N, Gilbert L, Polak P, Ragoussis J, Foulkes WD.
    • J Med Genet. 2022 Jan 17:jmedgenet-2021-108269. doi: 10.1136/jmedgenet-2021-108269. Epub ahead of print.
    • Case report

    • Value of the loss of heterozygosity to BRCA1 variant classification.
    • Santana dos Santos E, Spurdle AM, Carraro DM, Briaux A, Southey M, Torrezan G, Petitalot A, Leman R, Lafitte P, kConFab Investigators, Meseure D, Driouch K, Side L, Brewer C, Beck S, Melville A, Callaway A, Revillion F, Koike Folgueira MAA, Parsons MT, Thorne H, Vincent-Salomon A, Stoppa-Lyonnet D, Bieche I, Caputo SM, Rouleau E.
    • NPJ Breast Cancer. 2022 Jan 17;8(1):9. doi: 10.1038/s41523-021-00361-2.

    • Exome sequencing identifies RASSF1 and KLK3 germline variants in an Iranian multiple-case breast cancer family.
    • Radmanesh H, Liu D, Geffers R, Shandiz FH, Sadr-Nabavi A, Hillemanns P, Park-Simon TW, Dörk T.
    • Eur J Med Genet. 2022 Jan 12:104425. doi: 10.1016/j.ejmg.2022.104425. Epub ahead of print.
    • Case report

    • LitAlert ~~ GeneLit.com

    • BRCA Testing Underused in Women With Ovarian Cancer.
    • Otto MA.
    • Medscape. 2022 Jan 14.

    Related:

    Original research:

    Use of Germline BRCA Testing in Patients With Ovarian Cancer and Commercial Insurance.

    • Mainstreaming Genetic Testing for Epithelial Ovarian Cancer by Oncology Providers: A Survey of Current Practice.
    • Czekalski MA, Huziak RC, Durst AL, Taylor S, Mai PL.
    • JCO Precis Oncol. 2022 Jan;6:e2100409. doi: 10.1200/PO.21.00409.

    • LitAlert ~~ GeneLit.com

    • YouTube as an information source on BRCA mutations: implications for patients and professionals.
    • Laforet PE, Yalamanchili B, Hillyer GC, Basch CH.
    • J Community Genet. 2022 Jan 13. doi: 10.1007/s12687-022-00576-1. Epub ahead of print.

    • Cumulative Advanced Breast Cancer Risk Prediction Model Developed in a Screening Mammography Population.
    • Kerlikowske K, Chen S, Golmakani MK, Sprague BL, Tice JA, Tosteson ANA, Rauscher GH, Henderson LM, Buist DSM, Lee JM, Gard CC, Miglioretti DL.
    • J Natl Cancer Inst. 2022 Jan 13:djac008. doi: 10.1093/jnci/djac008. Epub ahead of print.

    Related:

    Commentary:

    Towards Using Breast Cancer Risk Prediction Models for Guiding Screening Decisions.

    • Analysis of pathogenic variants in BRCA1 and BRCA2 genes using next-generation sequencing in women with triple negative breast cancer from South India.
    • Rajagopal T, Seshachalam A, Jothi A, Rathnam KK, Talluri S, Venkatabalasubranian S, Dunna NR.
    • Mol Biol Rep. 2022 Jan 12. doi: 10.1007/s11033-022-07129-2. Epub ahead of print.

    • Evaluation of the indication of BRCA1/2 genetic tests in Iranian women and acceptance rate of risk-reducing surgeries in BRCA mutation carriers.
    • Vasigh M, Eslami B, Elahi A, Kaviani A, Shirkoohi R, Majidzadeh K, Nazarian N, Omranipour R.
    • Mol Genet Genomic Med. 2022 Jan 12:e1867. doi: 10.1002/mgg3.1867. Epub ahead of print.

    • BRCA1 Variant Assessment Using a Simple Analytic Assay.
    • Kim DM, Feilotter HE, Davey SK.
    • J Appl Lab Med. 2022 Jan 11:jfab163. doi: 10.1093/jalm/jfab163. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Beyond Brca1/2: Homologous Recombination Repair Genetic Profile in A Large Cohort of Apulian Ovarian Cancers.
    • Turchiano A, Loconte DC, De Nola R, Arezzo F, Chiarello G, Pantaleo A, Iacoviello M, Bagnulo R, De Luisi A, Perrelli S, Martino S, Ranieri C, Garganese A, Stella A, Forleo C, Loizzi V, Marinaccio M, Cicinelli E, Cormio G, Resta N.
    • Cancers (Basel). 2022 Jan 12;14(2):365. doi: 10.3390/cancers14020365.

    • Mutation landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and its relationship with Clinicopathological Characteristics.
    • Qianlan Y, Liu Y, Zhang L, Bao L, Bai Q, Cui Q, Xu J, Li M, Liu J, Chuai S, Ying J, Zhang Z, Zhou X.
    • Front Oncol. 2022 Jan 12;10:709645. doi: 10.3389/fonc.2022.709645.

    • Brief family history questionnaire to screen for Lynch syndrome in women with newly diagnosed non-serous, non-mucinous ovarian cancers.
    • Kim SR, Tone A, Kim R, Cesari M, Clarke B, Hart T, Aronson M, Holter S, Lytwyn A, Maganti M, Oldfield L, Gallinger S, Bernardini MQ, Oza AM, Djordjevic B, Lerner-Ellis J, Van de Laar E, Vicus D, Pugh TJ, Pollett A, Ferguson SE, Eiriksson L.
    • Int J Gynecol Cancer. 2022 Jan 10:ijgc-2021-003082. doi: 10.1136/ijgc-2021-003082. Epub ahead of print.

    • Helix: A Digital Tool to Address Provider Needs for Prostate Cancer Genetic Testing in Clinical Practice.
    • Giri VN, Walker A, Gross L, Trabulsi EJ, Lallas CD, Kelly WK, Gomella LG, Fischer C, Loeb S.
    • Clin Genitourin Cancer. 2021 Nov 27:S1558-7673(21)00220-2. doi: 10.1016/j.clgc.2021.11.009. Epub ahead of print.