Author: Steve Kopczak

    • 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.

    • 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.

    • 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)

    • 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.

    • LitAlert ~~ GeneLit.com

    • Olaparib Plus Durvalumab and Bevacizumab Provides Durable Survival in Non-Germline, BRCA+ Relapsed Ovarian Cancer.
    • Seymour C.
    • OncLive. 2022 Dec 4.

    Related:

    •• Identifier: NCT02734004: A Phase I/II Study of MEDI4736 in Combination With Olaparib in Patients With Advanced Solid Tumors. (MEDIOLA). (ClinicalTrials.gov . Accessed 2022 Dec 4.)

    • Clinical Application of Poly(ADP-Ribose) Polymerase (PARP) Inhibitors in Prostate Cancer.
    • Inderjeeth AJ, Topp M, Sanij E, Castro E, Sandhu S.
    • Cancers (Basel). 2022 Nov 30;14(23):5922. doi: 10.3390/cancers14235922.

    • Immediate Breast Reconstruction Using the Autologous Dermal Flap.
    • Kaviani A, Ashraf-Ganjouei A, Vasigh M, Zand S, Patocskai E.
    • J Surg Res. 2022 Nov 30;283:713-718. doi: 10.1016/j.jss.2022.11.002. Epub ahead of print.

    • 3D CRISPR screen in prostate cancer cells reveals PARP inhibitor sensitization through TBL1XR1-SMC3 interaction.
    • Zhang H, Gao H, Gu Y, John A, Wei L, Minhong Huang M, Yu J, Adeosun AA, Weinshilboum RM, Wang L.
    • Front Oncol. 2022 Nov 29;12:999302. doi: 10.3389/fonc.2022.999302.

    • [18F]FluorThanatrace ([18F]FTT) PET Imaging of PARP-inhibitor Drug-Target Engagement as a Biomarker of Response in Ovarian Cancer, a pilot study.
    • Pantel AR, Gitto SB, Makvandi M, Kim H, Medvedv S, Weeks JK, Torigian DA, Hsieh CJ, Ferman B, Latif NA, Tanyi JL, Martin LP, Lanzo SM, Liu F, Cao Q, Mills GB, Doot RK, Mankoff DA, Mach RH, Lin LL, Simpkins F.
    • Clin Cancer Res. 2022 Nov 28:CCR-22-1602. doi: 10.1158/1078-0432.CCR-22-1602. 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.

    • Long-term response to olaparib in a patient with metastatic pancreatic cancer associated with hereditary breast and ovarian cancer syndrome.
    • Tsuneizumi M, Terada S, Usui T, Yamaguchi K, Hayami R, Matsunuma R.
    • Oxf Med Case Reports. 2022 Nov 24;2022(11):omac124. doi: 10.1093/omcr/omac124.

    • LitAlert ~~ GeneLit.com

    • Olaparib Plus Durvalumab and Bevacizumab Provides Durable Survival in Non-Germline, BRCA+ Relapsed Ovarian Cancer.
    • Seymour C.
    • OncLive. 2022 Dec 4.

    Related:

    •• Identifier: NCT02734004: A Phase I/II Study of MEDI4736 in Combination With Olaparib in Patients With Advanced Solid Tumors. (MEDIOLA). (ClinicalTrials.gov . Accessed 2022 Dec 4.)

    • Clinical Application of Poly(ADP-Ribose) Polymerase (PARP) Inhibitors in Prostate Cancer.
    • Inderjeeth AJ, Topp M, Sanij E, Castro E, Sandhu S.
    • Cancers (Basel). 2022 Nov 30;14(23):5922. doi: 10.3390/cancers14235922.

    • 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)

    • Pathway-level mutation analysis in primary high-grade serous ovarian cancer and matched brain metastases.
    • Duchnowska R, Supernat AM, Pęksa R, Łukasiewicz M, Stokowy T, Ronen R, Dutkowski J, Umińska M, Iżycka-Świeszewska E, Kowalczyk A, Och W, Rucińska M, Olszewski WP, Mandat T, Jarosz B, Bieńkowski M, Biernat W, Jassem J.
    • Sci Rep. 2022 Nov 29;12(1):20537. doi: 10.1038/s41598-022-23788-4.

    • [18F]FluorThanatrace ([18F]FTT) PET Imaging of PARP-inhibitor Drug-Target Engagement as a Biomarker of Response in Ovarian Cancer, a pilot study.
    • Pantel AR, Gitto SB, Makvandi M, Kim H, Medvedv S, Weeks JK, Torigian DA, Hsieh CJ, Ferman B, Latif NA, Tanyi JL, Martin LP, Lanzo SM, Liu F, Cao Q, Mills GB, Doot RK, Mankoff DA, Mach RH, Lin LL, Simpkins F.
    • Clin Cancer Res. 2022 Nov 28:CCR-22-1602. doi: 10.1158/1078-0432.CCR-22-1602. 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.

    • THE IMPACT OF PANCREATIC CANCER SCREENING ON LIFE EXPECTANCY: A SYSTEMATIC REVIEW OF MODELLING STUDIES.
    • Koopmann BDM, Omidvari AH, Lansdorp-Vogelaar I, Cahen DL, Bruno MJ, de Kok IMCM.
    • Int J Cancer. 2022 Nov 28. doi: 10.1002/ijc.34379. Epub ahead of print.
    • Review

    • 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.

    • Using Genomic Variation to Distinguish Ovarian High-Grade Serous Carcinoma from Benign Fallopian Tubes.
    • Gonzalez-Bosquet J, Cardillo ND, Reyes HD, Smith BJ, Leslie KK, Bender DP, Goodheart MJ, ,Devor EJ.
    • Int J Mol Sci. 2022 Nov 26;23(23):14814. doi: 10.3390/ijms232314814.

    • Long-term response to olaparib in a patient with metastatic pancreatic cancer associated with hereditary breast and ovarian cancer syndrome.
    • Tsuneizumi M, Terada S, Usui T, Yamaguchi K, Hayami R, Matsunuma R.
    • Oxf Med Case Reports. 2022 Nov 24;2022(11):omac124. doi: 10.1093/omcr/omac124.

    • Investigation of mRNA Expression Levels of Tip60 and Related DNA Repair Genes in Molecular Subtypes of Breast Cancer.
    • Miser-Salihoglu E, Demokan S, Karanlik H, Karahalil B, Önder S, Cömert S, Yardim-Akaydin S.
    • Clin Breast Cancer. 2022 Nov 12:S1526-8209(22)00235-X. doi: 10.1016/j.clbc.2022.10.012. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Clinical Application of Poly(ADP-Ribose) Polymerase (PARP) Inhibitors in Prostate Cancer.
    • Inderjeeth AJ, Topp M, Sanij E, Castro E, Sandhu S.
    • Cancers (Basel). 2022 Nov 30;14(23):5922. doi: 10.3390/cancers14235922.

    • 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.

    • Pathway-level mutation analysis in primary high-grade serous ovarian cancer and matched brain metastases.
    • Duchnowska R, Supernat AM, Pęksa R, Łukasiewicz M, Stokowy T, Ronen R, Dutkowski J, Umińska M, Iżycka-Świeszewska E, Kowalczyk A, Och W, Rucińska M, Olszewski WP, Mandat T, Jarosz B, Bieńkowski M, Biernat W, Jassem J.
    • Sci Rep. 2022 Nov 29;12(1):20537. doi: 10.1038/s41598-022-23788-4.

    • 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.

    • Long-term response to olaparib in a patient with metastatic pancreatic cancer associated with hereditary breast and ovarian cancer syndrome.
    • Tsuneizumi M, Terada S, Usui T, Yamaguchi K, Hayami R, Matsunuma R.
    • Oxf Med Case Reports. 2022 Nov 24;2022(11):omac124. doi: 10.1093/omcr/omac124.

    • LitAlert ~~ GeneLit.com

    • Nanoparticle-Mediated PRDX2 Inhibition for Specific Targeting of CHK2-Null Colorectal Cancer.
    • Ahmad A, Prakash R, Khan MS, Altwaijry N, Asghar MN, Raza SS, Khan R.
    • ACS Biomater Sci Eng. 2022 Nov 29. doi: 10.1021/acsbiomaterials.2c01073. Epub ahead of print.

    • 3D CRISPR screen in prostate cancer cells reveals PARP inhibitor sensitization through TBL1XR1-SMC3 interaction.
    • Zhang H, Gao H, Gu Y, John A, Wei L, Minhong Huang M, Yu J, Adeosun AA, Weinshilboum RM, Wang L.
    • Front Oncol. 2022 Nov 29;12:999302. doi: 10.3389/fonc.2022.999302.

    • 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.

    • Using Genomic Variation to Distinguish Ovarian High-Grade Serous Carcinoma from Benign Fallopian Tubes.
    • Gonzalez-Bosquet J, Cardillo ND, Reyes HD, Smith BJ, Leslie KK, Bender DP, Goodheart MJ, ,Devor EJ.
    • Int J Mol Sci. 2022 Nov 26;23(23):14814. doi: 10.3390/ijms232314814.

    • Investigation of mRNA Expression Levels of Tip60 and Related DNA Repair Genes in Molecular Subtypes of Breast Cancer.
    • Miser-Salihoglu E, Demokan S, Karanlik H, Karahalil B, Önder S, Cömert S, Yardim-Akaydin S.
    • Clin Breast Cancer. 2022 Nov 12:S1526-8209(22)00235-X. doi: 10.1016/j.clbc.2022.10.012. Epub ahead of print.