Category: VUS

• Artificial intelligence-based recognition for variant pathogenicity of BRCA1 using AlphaFold2-predicted structures.
• Li C, Zhang L, Zhuo Z, Su F, Li H, Xu S, Liu Y, Zhang Z, Xie Y, Yu X, Bian L, Xiao F.
• Theranostics. 2023 Jan 1;13(1):391-402. doi: 10.7150/thno.79362.

• PMID: 36593954
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• Functional Analysis of Variants in BRCA1 Using CRISPR Base Editors.
• See JE, Kim Y.
• Methods Mol Biol. 2023 [First Online: 2023 Jan 3];2606:73-85. doi: 10.1007/978-1-0716-2879-9_7.

• PMID: 36592309
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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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• Assessing the pathogenicity of BRCA1/2 Variants of Unknown Significance: relevance and challenges for Breast Cancer precision medicine.
• De Paolis E, Paris I, Tilocca B, Roncada P, Foca L, Tiberi G, D'Angelo T, Pavese F, Muratore M, Carbognin L, Garganese G, Masetti R, Di Leone A, Fabi A, Scambia G, Urbani A, Generali D, Minucci A, Santonocito C.
• Front Oncol. 2022 Dec 28;12:1053035. doi: 10.3389/fonc.2022.1053035.

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• Germline variants associated with breast cancer in Khakass women of North Asia.
• Gervas P, Molokov A, Zarubin A, Topolnitskiy E, Shefer N, Pisareva L, Choynzonov E, Cherdyntseva N.
• Mol Biol Rep. 2022 Dec 28. doi: 10.1007/s11033-022-08215-1. Epub ahead of print.

• PMID: 36577833
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• Assessing the pathogenicity of BRCA1/2 Variants of Unknown Significance: relevance and challenges for Breast Cancer precision medicine.
• De Paolis E, Paris I, Tilocca B, Roncada P, Foca L, Tiberi G, D'Angelo T, Pavese F, Muratore M, Carbognin L, Garganese G, Masetti R, Di Leone A, Fabi A, Scambia G, Urbani A, Generali D, Minucci A, Santonocito C.
• Front Oncol. 2022 Dec 28;12:1053035. doi: 10.3389/fonc.2022.1053035.

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• 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.

• PMID: 36544278
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• A systematic method for detecting abnormal mRNA splicing and assessing its clinical impact in individuals undergoing genetic testing for hereditary cancer syndromes.
• Kamps-Hughes N, Carlton VEH, Fresard L, Osazuwa S, Starks E, Vincent JJ, Albritton S, Nussbaum RL, Nykamp K.
• J Mol Diagn. 2022 Dec 20:S1525-1578(22)00348-8. doi: 10.1016/j.jmoldx.2022.12.002. Epub ahead of print.

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• 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.

• PMID: 36537080
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• In Silico and Structure-Based Assessment of Similar Variants Discovered in Tandem Repeats of BRCT Domains of BRCA1 and BARD1 To Characterize the Folding Pattern.
• Barua SA, Goswami N, Mishra N, Sawant UU, Varma AK.
• ACS Omega. 2022 Nov 28;7(49):44772-44785. doi: 10.1021/acsomega.2c04782.

• PMID: 36530327
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• 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.

• PMID: 36482120
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• 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.

• PMID: 36446039
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Related:

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

• Analyzing the effects of BRCA1/2 variants on mRNA splicing by minigene assay.
• Dong Z, Wang Y, Zhang J, Zhu F, Liu Z, Kang Y, Lin M, Shi H.
• J Hum Genet. 2022 Nov 29. doi: 10.1038/s10038-022-01077-2. Epub ahead of print.

• PMID: 36446827
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