Category: Genetic Testing

LitAlert ~~ GeneLit.com

    • Germline Variants in DNA Damage Repair Genes and HOXB13 Among Black Patients With Early-Onset Prostate Cancer.
    • Trendowski MR, Sample C, Baird T, Sadeghpour A, Moon D, Ruterbusch JJ, Beebe-Dimmer JL, Cooney KA.
    • JCO Precis Oncol. 2022 Nov [2022 Nov 29];6:e2200460. doi: 10.1200/PO.22.00460.

    Related:

    •• Research news: Genetic Variants Linked to Prostate Cancer in Black Men Identified. (Inside Precision Medicine)

    • Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders.
    • Carrasco E, López-Fernández A, Codina-Sola M, Valenzuela I, Cueto-González AM, Villacampa G, Navarro V, Torres-Esquius S, Palau D, Cruellas M, Torres M, Perez-Dueñas B, Abulí A, Diez O, Sábado-Álvarez C, García-Arumí E, Tizzano EF, Moreno L, Balmaña J.
    • J Med Genet. 2022 Nov 29:jmg-2022-108929. doi: 10.1136/jmg-2022-108929. Epub ahead of print.

    • Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report.
    • Chen D, Zhang C, Yuan M, Zhang Y, Liu Q, Wan D.
    • Front Oncol. 2022 Nov 28;12:970641. doi: 10.3389/fonc.2022.970641.

    • Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers.
    • Evans DG, Sithambaram S, van Veen EM, Burghel GJ, Schlecht H, Harkness EF, Byers H, Ellingford JM, Gandhi A, Howell SJ, Howell A, Forde C, Lalloo F, Newman WG, Smith MJ, Woodward ER.
    • J Med Genet. 2022 Nov 28:jmg-2022-108790. doi: 10.1136/jmg-2022-108790. Epub ahead of print.

    • Halo Diagnostics, Ikonopedia Partner to Provide Genetic Testing for Breast Cancer.
    • [No author given]
    • Precision Oncology News. 2022 Nov 28.

    • Genetic Predisposition to Male Breast Cancer: A Case Series.
    • Apessos A, Agiannitopoulos K, Pepe G, Tsaousis GN, Pitta P, Bili C, Florentin L, Saloustros E, Kampletsas E, Tryfonopoulos D, Tsoukalas N, Bournakis E, Zagouri F, Kotsakis A, Koumarianou A, Korantzis I, Boukovinas I, Lypas G, Fountzilas G, Michalaki V, Xynogalos S, Linardou H, Papadopoulou E, Nasioulas G, Georgoulias V.
    • Anticancer Res. 2022 Dec;42(12):5795-5801. doi: 10.21873/anticanres.16086.

    • LitAlert ~~ GeneLit.com

    • Testing for Inherited Susceptibility to Breast Cancer.
    • Robson M.
    • Hematol Oncol Clin North Am. 2023 Feb;37(1):17-31. doi: 10.1016/j.hoc.2022.08.003.
    • Review

    • Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
    • Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa S, Pinheiro H, Sousa L, Monteiro R, Maqueda JJ, Fernandes S, Carneiro F, Pinto N, Lemos C, Pinto C, Teixeira MR, Aretz S, Bajalica-Lagercrantz S, Balmaña J, Blatnik A, Benusiglio PR, Blanluet M, Bours V, Brems H, Brunet J, Calistri D, Capellá G, Carrera S, Colas C, Dahan K, de Putter R, Desseignés C, Domínguez-Garrido E, Egas C, Evans DG, Feret D, Fewings E, Fitzgerald RC, Coulet F, Garcia-Barcina M, Genuardi M, Golmard L, Hackmann K, Hanson H, Holinski-Feder E, Hüneburg R, Krajc M, Lagerstedt-Robinson K, Lázaro C, Ligtenberg MJL, Martínez-Bouzas C, Merino S, Michils G, Novakovic S, Patiño-García A, Ranzani GN, Schröck E, Silva I, Silveira C, Soto JL, Spier I, Steinke-Lange V, Tedaldi G, Tejada MI, Woodward ER, Tischkowitz M, Hoogerbrugge N, Oliveira C.
    • Lancet Oncol. 2022 Nov 24:S1470-2045(22)00643-X. doi: 10.1016/S1470-2045(22)00643-X. Epub ahead of print.

    • Germline mutations in prostate cancer: a systematic review of the evidence for personalized medicine.
    • Marino F, Totaro A, Gandi C, Bientinesi R, Moretto S, Gavi F, Pierconti F, Iacovelli R, Bassi P, Sacco E.
    • Prostate Cancer Prostatic Dis. 2022 Nov 24. doi: 10.1038/s41391-022-00609-3. Epub ahead of print.
    • Review

    • LitAlert ~~ GeneLit.com

    • Testing for Inherited Susceptibility to Breast Cancer.
    • Robson M.
    • Hematol Oncol Clin North Am. 2023 Feb;37(1):17-31. doi: 10.1016/j.hoc.2022.08.003.
    • Review

    • Germline mutations in prostate cancer: a systematic review of the evidence for personalized medicine.
    • Marino F, Totaro A, Gandi C, Bientinesi R, Moretto S, Gavi F, Pierconti F, Iacovelli R, Bassi P, Sacco E.
    • Prostate Cancer Prostatic Dis. 2022 Nov 24. doi: 10.1038/s41391-022-00609-3. Epub ahead of print.
    • Review

    • LitAlert ~~ GeneLit.com

    • BRCAShare-Assessment of an animated digital message for intrafamilial communication of pathogenic variant positive test results: A feasibility study.
    • Aeilts AM, Carpenter KM, Hovick SR, Byrne L, Shoben AB, Senter L.
    • J Genet Couns. 2022 Nov 25. doi: 10.1002/jgc4.1656. Epub ahead of print.

    • A review of the cost-effectiveness of genetic testing for germline variants in familial cancer.
    • Teppala S, Hodgkinson B, Hayes S, Scuffham P, Tuffaha H.
    • J Med Econ. 2022 Nov 25:1-38. doi: 10.1080/13696998.2022.2152233. Epub ahead of print.

    • Whole-exome sequencing of BRCA-negative breast cancer patients and case-control analyses identify variants associated with breast cancer susceptibility.
    • Lee NY, Hum M, Amali AA, Lim WK, Wong M, Myint MK, Tay RJ, Ong PY, Samol J, Lim CW, Ang P, Tan MH, Lee SC, Lee ASG.
    • Hum Genomics. 2022 Nov 23;16(1):61. doi: 10.1186/s40246-022-00435-7.

    • Identification of novel exonic variants contributing to hereditary breast and ovarian cancer in West Indian population.
    • Waghela BN, Pandit RJ, Puvar A, Shah FD, Patel PS, Vora H, Sheth H, Tarapara B, Pandya S, Joshi CG, Joshi MN.
    • Gene. 2022 Nov 22:147070. doi: 10.1016/j.gene.2022.147070. Epub ahead of print.

    • Testing a deliberative democracy method with citizens of African ancestry to weigh pros and cons of targeted screening for hereditary breast and ovarian cancer risk.
    • Guan Y, Pathak S, Ballard D, Veluswamy JK, McCullough LE, McBride CM, Gornick MC.
    • Front Public Health. 2022 Nov 8;10:984926. doi: 10.3389/fpubh.2022.984926.

    • LitAlert ~~ GeneLit.com

    • Genetic Characterization in High-Risk Individuals from a Low-Resource City of Peru.
    • Zavaleta E, Solis N, Palacios MI, Zevallos-Escobar LE, Vasquez Corales E, Bazo-Alvarez JC, Dominguez-Barrera C, Campos A, Wernhoff P, Ekstrøm PO, Møller P, Visnovska T, Hovig E, Balazar-Palacios J, Alvarez-Valenzuela K, Nakken S, Dominguez-Valentin M.
    • Cancers (Basel). 2022 Nov 15;14(22):5603. doi: 10.3390/cancers14225603.

    • Stellenwert der genetischen Testung beim Prostatakarzinom [Importance of genetic testing in prostate cancer].
    • Steinkellner L, Luger F, Loidl W.
    • Urologie. 2022 Nov 15. German. doi: 10.1007/s00120-022-01977-3. Epub ahead of print.
    • Review. [Article in German]

    • The Genetics of Pancreatic Cancer
    • [No author given]
    • My Gene Counsel. Genetic Journal. 2022 Nov 14.

    • LitAlert ~~ GeneLit.com

    • UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer.
    • [No author given]
    • GenomeWeb. The Scan. 2022 Nov 23.

    Related:

    •• Original research:

    A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot.

    • Investigating Psychological Impact after Receiving Genetic Risk Results—A Survey of Participants in a Population Genomic Screening Program.
    • Zayac McCormick CZ, Dilzell Yu K, Johns A, Campbell-Salome G, Hallquist MLG, Sturm AC, Buchanan AH.
    • J Pers Med. 2022 Nov 22;12(12):1943. doi: 10.3390/jpm12121943.

    • Four-in-Five Eligible Breast Cancer Patients Not Informed of Genomic Testing Options.
    • [No author given]
    • Inside Precision Medicine. Topics. Oncology. 2022 Nov 21.

    • LitAlert ~~ GeneLit.com

    • Cytopathological assessment is an accurate method for identifying immunophenotypic features and BRCA1/2 mutations of high-grade serous carcinoma from ascites.
    • Miceska S, Škof E, Novakovic S, Stegel V, Jericevic A, Grcar Kuzmanov B, Smrkolj Š, Cvjeticanin B, Bebar S, Globocnik Kukovica M, Kloboves-Prevodnik V.
    • Cancer Cytopathol. 2022 Nov 18. doi: 10.1002/cncy.22664. Epub ahead of print.

    • Fatalism and metaphor in Confucianism: A qualitative study of barriers to genetic testing among first-degree relatives of hereditary cancer patients from China.
    • Jiang C, Liu L, Wang Y, Wu L, Zhang W, Wu X.
    • Psychooncology. 2022 Nov 15. doi: 10.1002/pon.6068. Epub ahead of print.

    • Feasibility Study and Clinical Impact of Incorporating Breast Tissue Density in High-Risk Breast Cancer Screening Assessment.
    • Rusnak A, Morrison S, Smith E, Hastings V, Anderson K, Aldridge C, Zelenietz S, Reddick K, Regnier S, Alie E, Islam N, Fasih R, Peddle S, Cordeiro E, Tomiak E, Seely JM.
    • Curr Oncol. 2022 Nov 15;29(11):8742-8750. doi: 10.3390/curroncol29110688.

    • 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.