Category: Genetic Testing

• Genetic variants in African-American and Hispanic patients with breast cancer.
• Dutta P, Keung MY, Wu Y, Vadgama JV.
• Oncol Lett. 2022 Dec 16 [eCollection 2023 Feb];25(2):51. doi: 10.3892/ol.2022.13637.

• PMID: 36644153
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• Shallow Whole-Genome Sequencing of Cell-Free DNA (cfDNA) Detects Epithelial Ovarian Cancer and Predicts Patient Prognosis.
• Bak SE, Kim H, Ho JY, Cho EH, Lee J, Youn SM, Park SW, Han MR, Hur SY, Lee SJ, Choi YJ.
• Cancers (Basel). 2023 Jan 15;15(2):530. doi: 10.3390/cancers15020530.

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• A Glance at Molecular Advances in Cancer Genetics: A Baffling Puzzle Still to Be Solved.
• Ghiorzo P, Bruno W.
• Int J Mol Sci. 2023 Jan 11;24(2):1394. doi: 10.3390/ijms24021394.

• Review
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• Assessing Breast and Ovarian Cancer Risk Prior to Gender-Affirming Surgery.
• Cortina CS.
• JAMA Surg. 2023 Jan 11. doi: 10.1001/jamasurg.2022.5447. Epub ahead of print.

• PMID: 36630117
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• Klinisch relevante molekularpathologische Diagnostik beim Mammakarzinom [Clinically relevant molecular pathological diagnostics in breast cancer].
• Rodepeter FR, Teply-Szymanski J, Romey M, Grass A, Erber R, Lebeau A, Mack EKM, Tarawneh TS, Gremke N, Boekhoff J, Wündisch T, Wagner U, Jank P, Denkert C.
• Pathologie (Heidelb). 2023 Jan 11. German. doi: 10.1007/s00292-022-01175-0. Epub ahead of print.

• PMID: 36629894
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• Review. [Article in German]

• January 2023: Awareness of genetic testing – results and analysis from the 2020 Health Information National Trends Survey.
• Mechanic L, Helzlsouer K.
• Genet Med. GenePOD. 2023 Jan 9.

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•• Original research:

Awareness and use of genetic testing: An analysis of the Health Information National Trends Survey 2020.

• PMID: 36136089
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• Adding a genetic counseling assistant improves efficiency of hereditary cancer genetic counseling without impacting patient experience.
• Cohen SA, Nixon DM, Lichtenberg E.
• J Genet Couns. 2023 Jan 8. doi: 10.1002/jgc4.1671. Epub ahead of print.

• PMID: 36617522
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• Development and Clinical Applications of an Enclosed Automated Targeted NGS Library Preparation System.
• Shi C, Feng Y, Sun R, Chen J, Zhao Y, Wang Z, Xie S, Zhou J, Yang L, Cao X, Feng J, Zhang C, Wei B, Wang X, Chang Y, Zhao J, Wang Z, Zheng J, Liu J, Chantratita W, Xiong L, Zhang D, Chen C, Ma J.
• Clin Chim Acta. 2023 Jan 7:117224. doi: 10.1016/j.cca.2023.117224. Epub ahead of print.

• PMID: 36627008
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• Genetic Testing in the Latinx community: Impact of acculturation and provider relationships.
• Ioffe YJ, Hong L, Joachim-Célestin M, Soret C, Montgomery S, Unternaehrer JJ.
• Gynecol Oncol. 2022 Dec 26;169:125-130. doi: 10.1016/j.ygyno.2022.12.001. Epub ahead of print.

• PMID: 36577267
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• Oncogenetica [Oncogenetics].
• Suerink M, Bleiker EMA, Nielsen M, Houwink EJF, Baas JM, Ausems MGEM.
• Ned Tijdschr Geneeskd. 2022 Dec 22;167:D6958. Dutch.

• PMID: 36633037
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• [Article in Dutch]

• Sociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Neiva, Huila, Colombia.
• Olaya J, Sanjuan J, Torres-Lopez D, Olaya L, Gutierrez-Vargas M, Olaya G, Olaya JD.
• Cureus. 2022 Dec 6;14(12):e32257. doi: 10.7759/cureus.32257.

• PMID: 36620844
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• Molecular characteristics of Asian male BRCA-related cancers.
• Kwong A, Ho CYS, Shin VY, Ng ATL, Chan TL, Ma ESK.
• Breast Cancer Res Treat. 2023 Jan 13. doi: 10.1007/s10549-022-06651-y. Epub ahead of print.

• PMID: 36637704
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• The economic value of knowing BRCA status: universal BRCA testing for breast cancer prevention.
• Oh M, McBride A, Bhattacharjee S, Slack M, Jeter J, Abraham I.
• Expert Rev Pharmacoecon Outcomes Res. 2023 Jan 13. doi: 10.1080/14737167.2023.2169135. Epub ahead of print.

• PMID: 36637419
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• The expression and mutation of BRCA1/2 genes in ovarian cancer: a global systematic study.
• Chu DT, Vu Ngoc Suong M, Vu Thi H, Vu TD, Nguyen MH, Singh V.
• Expert Rev Mol Diagn. 2023 Jan 12. doi: 10.1080/14737159.2023.2168190. Epub ahead of print.

• PMID: 36634123
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• Review

• Inherited mutations in Chinese patients with upper tract urothelial carcinoma.
• Wu J, Jin S, Gu C, Wei Y, Zhu Y, Necchi A, Shariat SF, Pan J, Gan H, Dai B, Zhang H, Shi G, Zhu Y, Shen Y, Zhu Y, Ye D.
• Cell Rep Med. 2022 Dec 23:100883. doi: 10.1016/j.xcrm.2022.100883. Epub ahead of print.

• PMID: 36630951
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• Management of patients with advanced prostate cancer in Japan: 'real-world' consideration of the results from the Advanced Prostate Cancer Consensus Conference.
• Fujita K, Suzuki H, Hinata N, Miura Y, Edamura K, Tabata KI, Arai G, Matsubara N, Yasumizu Y, Kosaka T, Oya M, Sugimoto M.
• Transl Androl Urol. 2022 Dec;11(12):1771-1785. doi: 10.21037/tau-22-396.

• PMID: 36632151
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•• Commentary:

Assessment of real-world application of advanced prostate cancer management in Japan.

• PMID: 36632149
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• EBCC-13 manifesto: Balancing pros and cons for contralateral prophylactic mastectomy.
• Schmidt MK, Kelly JE, Brédart A, Cameron DA, de Boniface J, Easton DF, Offersen BV, Poulakaki F, Rubio IT, Sardanelli F, Schmutzler R, Spanic T, Weigelt B, Rutgers EJT.
• Eur J Cancer. 2023 Jan 10. doi: 10.1016/j.ejca.2022.11.036. Epub ahead of print.

• Review, Guideline
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• Polygenic risk scores and breast cancer risk prediction.
• Roberts E, Howell S, Evans G.
• Breast. 2022 Jan 9:S0960-9776(23)00003-6. doi: 10.1016/j.breast.2023.01.003. Epub ahead of print.

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• Risk Assessment and Pancreatic Cancer: Diagnostic Management and Artificial Intelligence.
• Granata V, Fusco R, Setola SV, Galdiero R, Maggialetti N, Silvestro L, De Bellis M, Di Girolamo E, Grazzini G, Chiti G, Brunese MC, Belli A, Patrone R, Palaia R, Avallone A, Petrillo A, Izzo F.
• Cancers (Basel). 2023 Jan 5;15(2):351. doi: 10.3390/cancers15020351.

• Review
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• Current Issues in the Management of Patients With Newly Diagnosed Advanced-Stage High-Grade Serous Carcinoma of the Ovary.
• Penn CA, Alvarez RD.
• JCO Oncol Pract. 2023 Jan 5:OP2200461. doi: 10.1200/OP.22.00461. Epub ahead of print.

• PMID: 36603168
• PubMed abstract

• Review
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• A polygenic two-hit hypothesis for prostate cancer.
• Houlahan KE, Livingstone J, Fox NS, Kurganovs N, Zhu H, Sietsma Penington J, Jung CH, Yamaguchi TN, Heisler LE, Jovelin R, Costello AJ, Pope BJ, Kishan AU, Corcoran NM, Bristow RG, Waszak SM, Weischenfeldt J, He HH, Hung RJ, Hovens CM, Boutros PC.
• J Natl Cancer Inst. 2023 Jan 5:djad001. doi: 10.1093/jnci/djad001. Epub ahead of print.

• PMID: 36610996
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• Genetic Risk Prediction for Prostate Cancer: Implications for Early Detection and Prevention.
• Seibert TM, Garraway IP, Plym A, Mahal BA, Giri V, Jacobs MF, Cheng HH, Loeb S, Helfand BT, Eeles RA, Morgan TM.
• Eur Urol. 2023 Jan 4:S0302-2838(22)02870-6. doi: 10.1016/j.eururo.2022.12.021. Epub ahead of print.

• PMID: 36609003
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• Review

• Clinical usefulness of NGS multi-gene panel testing in hereditary cancer analysis.
• Anaclerio F, PILENZI L, Dell'elice A, Ferrante R, Gildetti S, Ferlito LM, Marinelli C, Calabrese G, Stuppia L, Antonucci I.
• Front Genet. 2023 Jan 4;12:1060504. doi: 10.3389/fgene.2023.1060504.

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• Genetic, Surgical and Oncological Approach to Breast Cancer, with BRCA1, BRCA2, CDH1, PALB2, PTEN and TP53 Variants.
• Subaşıoğlu A, Güç ZG, Gür EÖ, Tekindal MA, Atahan MK.
• Eur J Breast Health. 2023 Jan 1;19(1):55-69. doi: 10.4274/ejbh.galenos.2022.2022-7-2.

• PMID: 36605468
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• Expert consensus of the Spanish Society of Pathology and the Spanish Society of Medical Oncology on the determination of biomarkers in pancreatic and biliary tract cancer.
• Vera R, Ibarrola-de Andrés C, Adeva J, Pérez-Rojas J, García-Alfonso P, Rodríguez-Gil Y, Macarulla T, Serrano-Piñol T, Mondéjar R, Madrigal-Rubiales B.
• Rev Esp Patol. 2023 Jan-Mar;56(1):32-44. doi: 10.1016/j.patol.2022.06.004. Epub 2022 Aug 26.

• PMID: 36599598
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• Review

• The Contribution of Germline Pathogenic Variants in Breast Cancer Genes to Contralateral Breast Cancer Risk in BRCA1/BRCA2/PALB2-Negative Women.
• Larionov A, Fewings E, Redman J, Goldgraben M, Clark G, Boice J, Concannon P, Bernstein J, Conti DV, the WECARE Study Collaborative Group, Tischkowitz M.
• Cancers (Basel). 2023 Jan 8;15(2):415. doi: 10.3390/cancers15020415.

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• Missed opportunities in the real-world genetic testing in BRCA gene variant carriers with cancers meeting NCCN criteria.
• Lee SS, Rajeev P, Finning S, Oh C, Pothuri B.
• Gynecol Oncol. 2023 Jan 5;170:32-37. doi: 10.1016/j.ygyno.2022.12.015. Epub ahead of print.

• PMID: 36610379
• PubMed abstract
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• Breast Cancer Advances in 2022 Showcase a Shifting Landscape.
• Sparano JA.
• OncLive. 2023 Jan 6.

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• Association of a novel BRCA2 mutation with prostate cancer risk further supports germline genetic testing.
• Foley GR, Marthick JR, Ostrander EA, Stanford JL, Dickinson JL, FitzGerald L.
• Eur J Cancer. 2023 Feb 1;180:155-157. doi: 10.1016/j.ejca.2022.11.034. Epub ahead of print.

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• Case report

• Development of a comprehensive approach to adult hereditary cancer testing in Ontario.
• Bell KA, Kim R, Aronson M, Gillies B, Ali Awan A, Chun K, Hart J, Healey R, Kim L, Klaric G, Panabaker K, Sabatini PJB, Sadikovic B, Selvarajah S, Smith AC, Stockley TL, Vaags AK, Eisen A, Pollett A, Feilotter H.
• J Med Genet. 2022 Dec 23:jmg-2022-108945. doi: 10.1136/jmg-2022-108945. Epub ahead of print.

• PMID: 36564171
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• Prevalence of Germline BRCA1/2 Variants in Ashkenazi and Non-Ashkenazi Prostate Cancer Populations: A Systematic Review and Meta-Analysis.
• Cioffi A, De Cobelli O, Veronesi P, La Vecchia C, Maisonneuve P, Corso G.
• Cancers (Basel). 2023 Jan 2;15(1):306. doi: 10.3390/cancers15010306.

• Meta-Analysis
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• Parent-of-origin detection and chromosome-scale haplotyping using long-read DNA methylation sequencing and Strand-seq.
• Akbari V, Hanlon VCT, O’Neill K, Lefebvre L, Schrader KA, Lansdorp PM, Jones SJM.
• Cell Genom. 2021 Dec 21. doi: 10.1016/j.xgen.2022.100233. Epub ahead of print.

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Related:

•• Research news: Genetic Test Identifies Parental Source of Cancer Variant. (Medscape Oncology)

• Next-generation sequencing of homologous recombination genes could predict efficacy of platinum-based chemotherapy in non-small cell lung cancer.
• Zhang L, Guan S, Meng F, Teng L, Zhong D.
• Front Oncol. 2022 Dec 14;12:1035808. doi: 10.3389/fonc.2022.1035808.

• PMID: 36591485
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• Frequency of Pathogenic Germline Mutations in Early and Late Onset Familial Breast Cancer Patients Using Multi-Gene Panel Sequencing: An Egyptian Study.
• Nassar A, Zekri ARN, Kamel MM, Elberry MH, Lotfy MM, Seadawy MG, Hassan ZK, Soliman HK, Lymona AM, El-Din Youssef AS.
• Genes (Basel). 2022 Dec 29;14(1):106. doi: 10.3390/genes14010106.

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