Author: Steve Kopczak

LitAlert ~~ GeneLit.com

    • Response to bipolar androgen therapy and PD-1 inhibition in a patient with metastatic castration-resistant prostate cancer and a germline CHEK2 mutation.
    • Berger BT, Labriola MK, Antonarakis ES, Armstrong AJ.
    • BMJ Case Rep. 2023 Jan 18;16(1):e251320. doi: 10.1136/bcr-2022-251320.
    • Case report

    • Thioparib inhibits homologous recombination repair, activates the type I IFN response, and overcomes olaparib resistance.
    • Wang LM, Wang P, Chen XM, Yang H, Song SS, Song Z, Jia L, Chen HD, Bao XB, Guo N, Huan XJ, Xi Y, Shen YY, Yang XY, Su Y, Sun YM, Gao YL, Chen Y, Ding J, Lang JY, Miao ZH, Zhang A, He JX.
    • EMBO Mol Med. 2023 Jan 18:e16235. doi: 10.15252/emmm.202216235. Epub ahead of print.

    • Actionable genomic landscapes from a real-world cohort of urothelial carcinoma patients.
    • Gerald T, Margulis V, Meng X, Bagrodia A, Cole S, Qin Q, Call SG, Mauer E, Lotan Y, Woldu SL.
    • Urol Oncol. 2023 Jan 16:S1078-1439(22)00493-8. doi: 10.1016/j.urolonc.2022.12.008. Epub ahead of print.

    • Impact of Homologous Recombination Deficiency on Outcomes in Patients With Triple-Negative Breast Cancer Treated With Carboplatin-Based Neoadjuvant Chemotherapy: Secondary Analysis of the NeoCART Randomized Clinical Trial.
    • Zhang L, Wu Z, Li J, Zhu D, Yang L, Shao Y, Lin Y, Liu Z, Cao Y, Zhang G, Shang S, Zhang Y, Wang K.
    • JCO Precis Oncol. 2023 Jan;7:e2200337. doi: 10.1200/PO.22.00337.

    Related:

    •• Identifier: NCT03154749: DCb (Docetaxel/Carboplatin) Versus EC-D (Epirubicin/Cyclophosphamide Followed by Docetaxe) as Neoadjuvant Chemotherapy for Triple-Negative Breast Cancer. (ClinicalTrials.gov . Accessed 2023 Jan 18.)

    • LitAlert ~~ GeneLit.com

    • Survival Outcomes in Women with Unilateral, Triple-Negative, Breast Cancer Correlated with Contralateral Prophylactic Mastectomy.
    • Fasano GA, Bayard S, Chen Y, Marti J, Simmons R, Swistel A, Bensenhaver J, Davis M, Newman L.
    • Ann Surg Oncol. 2023 Jan 21. doi: 10.1245/s10434-022-13056-0. Epub ahead of print.

    • Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition.
    • Kumpula TA, Koivuluoma S, Soikkonen L, Vorimo S, Moilanen J, Winqvist R, Mantere T, Kuismin O, Pylkäs K.
    • Fam Cancer. 2023 Jan 19. doi: 10.1007/s10689-023-00327-2. Epub ahead of print.

    • Response to bipolar androgen therapy and PD-1 inhibition in a patient with metastatic castration-resistant prostate cancer and a germline CHEK2 mutation.
    • Berger BT, Labriola MK, Antonarakis ES, Armstrong AJ.
    • BMJ Case Rep. 2023 Jan 18;16(1):e251320. doi: 10.1136/bcr-2022-251320.
    • Case report

    • Inference on the Genetic Architecture of Breast Cancer Risk.
    • Yasui Y, Letsou W, Wang F, Im C, Sapkota Y, Wang Z, Mirzaei Salehabadi S, Baedke JL, Moon WJ, Liu Q, Robison LL, Martinez JM.
    • Cancer Epidemiol Biomarkers Prev. 2023 Jan 18:EPI-22-1073. doi: 10.1158/1055-9965.EPI-22-1073. Epub ahead of print.

    • Actionable genomic landscapes from a real-world cohort of urothelial carcinoma patients.
    • Gerald T, Margulis V, Meng X, Bagrodia A, Cole S, Qin Q, Call SG, Mauer E, Lotan Y, Woldu SL.
    • Urol Oncol. 2023 Jan 16:S1078-1439(22)00493-8. doi: 10.1016/j.urolonc.2022.12.008. Epub ahead of print.

    • Impact of Homologous Recombination Deficiency on Outcomes in Patients With Triple-Negative Breast Cancer Treated With Carboplatin-Based Neoadjuvant Chemotherapy: Secondary Analysis of the NeoCART Randomized Clinical Trial.
    • Zhang L, Wu Z, Li J, Zhu D, Yang L, Shao Y, Lin Y, Liu Z, Cao Y, Zhang G, Shang S, Zhang Y, Wang K.
    • JCO Precis Oncol. 2023 Jan;7:e2200337. doi: 10.1200/PO.22.00337.

    Related:

    •• Identifier: NCT03154749: DCb (Docetaxel/Carboplatin) Versus EC-D (Epirubicin/Cyclophosphamide Followed by Docetaxe) as Neoadjuvant Chemotherapy for Triple-Negative Breast Cancer. (ClinicalTrials.gov . Accessed 2023 Jan 18.)

    • LitAlert ~~ GeneLit.com

    • Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition.
    • Kumpula TA, Koivuluoma S, Soikkonen L, Vorimo S, Moilanen J, Winqvist R, Mantere T, Kuismin O, Pylkäs K.
    • Fam Cancer. 2023 Jan 19. doi: 10.1007/s10689-023-00327-2. Epub ahead of print.

    • Response to bipolar androgen therapy and PD-1 inhibition in a patient with metastatic castration-resistant prostate cancer and a germline CHEK2 mutation.
    • Berger BT, Labriola MK, Antonarakis ES, Armstrong AJ.
    • BMJ Case Rep. 2023 Jan 18;16(1):e251320. doi: 10.1136/bcr-2022-251320.
    • Case report

    • Inference on the Genetic Architecture of Breast Cancer Risk.
    • Yasui Y, Letsou W, Wang F, Im C, Sapkota Y, Wang Z, Mirzaei Salehabadi S, Baedke JL, Moon WJ, Liu Q, Robison LL, Martinez JM.
    • Cancer Epidemiol Biomarkers Prev. 2023 Jan 18:EPI-22-1073. doi: 10.1158/1055-9965.EPI-22-1073. Epub ahead of print.

    • Actionable genomic landscapes from a real-world cohort of urothelial carcinoma patients.
    • Gerald T, Margulis V, Meng X, Bagrodia A, Cole S, Qin Q, Call SG, Mauer E, Lotan Y, Woldu SL.
    • Urol Oncol. 2023 Jan 16:S1078-1439(22)00493-8. doi: 10.1016/j.urolonc.2022.12.008. Epub ahead of print.

    • Survival Outcomes in Women with Unilateral, Triple-Negative, Breast Cancer Correlated with Contralateral Prophylactic Mastectomy.
    • Fasano GA, Bayard S, Chen Y, Marti J, Simmons R, Swistel A, Bensenhaver J, Davis M, Newman L.
    • Ann Surg Oncol. 2023 Jan 21. doi: 10.1245/s10434-022-13056-0. Epub ahead of print.

    • Landscape of DNA damage response gene alterations in breast cancer: A comprehensive investigation.
    • Jin J, Cao J, Li B, Li T, Zhang J, Cao J, Zhao M, Wang L, Wang B, Tao Z, Hu X.
    • Cancer. 2023 Jan 18. doi: 10.1002/cncr.34618. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Impact of the coverage of risk-reducing salpingo-oophorectomy by the national insurance system for women with BRCA pathogenic variants in Japan.
    • Nomura H, Abe A, Fusegi A, Yoshimitsu T, Misaka S, Murakami A, Matsumoto T, Tsumura S, Kanno M, Aoki Y, Netsu S, Omi M, Tanigawa T, Okamoto S, Omatsu K, Yunokawa M, Kanao H, Habano E, Arakawa H, Kaneko K, Ueki A, Haruyama Y, Inari H, Ueno T.
    • Sci Rep. 2023 Jan 19;13(1):1018. doi: 10.1038/s41598-023-28304-w.

    • Histopathological results of radical prostatectomy specimen of men younger than 50 years of age at the time of surgery: possible implications for prostate cancer screening programs?
    • Mehring G, Tilki D, Heinzer H, Steuber T, Pose RM, Thederan I, Budäus L, Salomon G, Haese A, Michl U, Maurer T, Huland H, Graefen M, Isbarn H.
    • World J Urol. 2023 Jan 19. doi: 10.1007/s00345-023-04287-1. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.
    • Fierheller CT, Alenezi WM, Serruya C, Revil T, Amuzu S, Bedard K, Subramanian DN, Fewings E, Bruce JP, Prokopec S, Bouchard L, Provencher D, Foulkes WD, El Haffaf Z, Mes-Masson AM, Tischkowitz M, Campbell IG, Pugh TJ, Greenwood CMT, Ragoussis J, Tonin PN.
    • Genes (Basel). 2023 Jan 20;14(2):277. doi: 10.3390/genes14020277.

    • Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions.
    • Hovland HN, Kabanyana Mchaina E, Høberg-Vetti H, Ariansen SL, Sjursen W, Van Ghelue M, Haukanes BI, Knappskog PM, Aukrust I, Ognedal E.
    • Genes (Basel). 2023 Jan 19;14(2):262. doi: 10.3390/genes14020262.

    • Guideline-Based, Multi-Gene Panel Germline Genetic Testing for at-Risk Patients with Breast Cancer.
    • Abdel-Razeq H, Abujamous L, Al-Azzam K, Abu-Fares H, Bani Hani H, Alkyam M, Sharaf B, Elemian S, Tamimi F, Abuhijla F, Edaily S, Salama O, Abdulelah H, Daoud R, Abubaker M, Al-Atary A.
    • Breast Cancer (Dove Med Press). 2023 Jan 13;15:1-10. doi: 10.2147/BCTT.S394092.

    • The cancer-risk variant frequency among Polish population reported by the first national whole-genome sequencing study.
    • Mroczek M, Liu J, Sypniewski M, Pieńkowski T, Itrych B, Stojak J, Pronobis-Szczylik B, Stępień M, Kaja E, Dąbrowski M, Suchocki T, Wojtaszewska M, Zawadzki P, Mach A, Sztromwasser P, Król ZJ, Szyda J, Dobosz P.
    • Front Oncol. 2023 Jan 9;13:1045817. doi: 10.3389/fonc.2023.1045817.

    • LitAlert ~~ GeneLit.com

    • Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.
    • Fierheller CT, Alenezi WM, Serruya C, Revil T, Amuzu S, Bedard K, Subramanian DN, Fewings E, Bruce JP, Prokopec S, Bouchard L, Provencher D, Foulkes WD, El Haffaf Z, Mes-Masson AM, Tischkowitz M, Campbell IG, Pugh TJ, Greenwood CMT, Ragoussis J, Tonin PN.
    • Genes (Basel). 2023 Jan 20;14(2):277. doi: 10.3390/genes14020277.

    • Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions.
    • Hovland HN, Kabanyana Mchaina E, Høberg-Vetti H, Ariansen SL, Sjursen W, Van Ghelue M, Haukanes BI, Knappskog PM, Aukrust I, Ognedal E.
    • Genes (Basel). 2023 Jan 19;14(2):262. doi: 10.3390/genes14020262.

    • Histopathological results of radical prostatectomy specimen of men younger than 50 years of age at the time of surgery: possible implications for prostate cancer screening programs?
    • Mehring G, Tilki D, Heinzer H, Steuber T, Pose RM, Thederan I, Budäus L, Salomon G, Haese A, Michl U, Maurer T, Huland H, Graefen M, Isbarn H.
    • World J Urol. 2023 Jan 19. doi: 10.1007/s00345-023-04287-1. Epub ahead of print.

    • Landscape of DNA damage response gene alterations in breast cancer: A comprehensive investigation.
    • Jin J, Cao J, Li B, Li T, Zhang J, Cao J, Zhao M, Wang L, Wang B, Tao Z, Hu X.
    • Cancer. 2023 Jan 18. doi: 10.1002/cncr.34618. Epub ahead of print.

    • Guideline-Based, Multi-Gene Panel Germline Genetic Testing for at-Risk Patients with Breast Cancer.
    • Abdel-Razeq H, Abujamous L, Al-Azzam K, Abu-Fares H, Bani Hani H, Alkyam M, Sharaf B, Elemian S, Tamimi F, Abuhijla F, Edaily S, Salama O, Abdulelah H, Daoud R, Abubaker M, Al-Atary A.
    • Breast Cancer (Dove Med Press). 2023 Jan 13;15:1-10. doi: 10.2147/BCTT.S394092.

    • LitAlert ~~ GeneLit.com

    • Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.
    • Fierheller CT, Alenezi WM, Serruya C, Revil T, Amuzu S, Bedard K, Subramanian DN, Fewings E, Bruce JP, Prokopec S, Bouchard L, Provencher D, Foulkes WD, El Haffaf Z, Mes-Masson AM, Tischkowitz M, Campbell IG, Pugh TJ, Greenwood CMT, Ragoussis J, Tonin PN.
    • Genes (Basel). 2023 Jan 20;14(2):277. doi: 10.3390/genes14020277.

    • Landscape of DNA damage response gene alterations in breast cancer: A comprehensive investigation.
    • Jin J, Cao J, Li B, Li T, Zhang J, Cao J, Zhao M, Wang L, Wang B, Tao Z, Hu X.
    • Cancer. 2023 Jan 18. doi: 10.1002/cncr.34618. Epub ahead of print.

    • Guideline-Based, Multi-Gene Panel Germline Genetic Testing for at-Risk Patients with Breast Cancer.
    • Abdel-Razeq H, Abujamous L, Al-Azzam K, Abu-Fares H, Bani Hani H, Alkyam M, Sharaf B, Elemian S, Tamimi F, Abuhijla F, Edaily S, Salama O, Abdulelah H, Daoud R, Abubaker M, Al-Atary A.
    • Breast Cancer (Dove Med Press). 2023 Jan 13;15:1-10. doi: 10.2147/BCTT.S394092.

    • The cancer-risk variant frequency among Polish population reported by the first national whole-genome sequencing study.
    • Mroczek M, Liu J, Sypniewski M, Pieńkowski T, Itrych B, Stojak J, Pronobis-Szczylik B, Stępień M, Kaja E, Dąbrowski M, Suchocki T, Wojtaszewska M, Zawadzki P, Mach A, Sztromwasser P, Król ZJ, Szyda J, Dobosz P.
    • Front Oncol. 2023 Jan 9;13:1045817. doi: 10.3389/fonc.2023.1045817.