Author: Steve Kopczak

LitAlert ~~ GeneLit.com

    • How the Analysis of the Pathogenetic Variants of DDR Genes Will Change the Management of Prostate Cancer Patients.
    • Sciarra A, Frisenda M, Bevilacqua G, Gentilucci A, Cattarino S, Mariotti G, Del Giudice F, Di Pierro GB, Viscuso P, Casale P, I. Chung BI, Autorino R, Crivellaro S, Salciccia S.
    • Int J Mol Sci. 2022 Dec 30;24(1):674. doi: 10.3390/ijms24010674.

    • Ovarian cancer onset across different BRCA mutation types: a view to a more tailored approach for BRCA mutated patients.
    • Marchetti C, Ataseven B, Cassani C, Sassu CM, Congedo L, D'Indinosante M, Cappuccio S, Rhiem K, Hahnen E, Lucci Cordisco E, Arbustini E, Harter P, Minucci A, Scambia G, Fagotti A.
    • Int J Gynecol Cancer. 2022 Dec 29:ijgc-2022-003893. doi: 10.1136/ijgc-2022-003893. Epub ahead of print.

    • Optimized detection of homologous recombination deficiency improves the prediction of clinical outcomes in cancer.
    • Perez-Villatoro F, Oikkonen J, Casado J, Chernenko A, Gulhan DC, Tumiati M, Li Y, Lavikka K, Hietanen S, Hynninen J, Haltia UM, Tyrmi JS, Laivuori H, Konstantinopoulos PA, Hautaniemi S, Kauppi L, Färkkilä A.
    • NPJ Precis Oncol. 2022 Dec 29;6(1):96. doi: 10.1038/s41698-022-00339-8.

    • The therapeutic relevance of a BRCA2 mutation in a patient with recurrent thymoma: a case report.
    • Sigurdson S, Marom EM, Rimner A, Shepherd A, Szolkowska M, Roden AC, Marino M, Tomiyama N, Ball D, Falkson C, Rajan A.
    • Mediastinum. 2022 Dec 25;6:40. doi: 10.21037/med-22-9.

    • Hysterectomy by transvaginal natural orifice transluminal endoscopic surgery: An Italian initial experience.
    • Interdonato ML, Scollo P, Bignardi T, Massimello F, Ferrara M, Donatiello G, Caretto M, Mannella P, Pecorino B, Meroni MG, Simoncini T.
    • Front Med (Lausanne). 2022 Dec 13;9:1018232. doi: 10.3389/fmed.2022.1018232.

    • 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.

    • 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.

    • LitAlert ~~ GeneLit.com

    • 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.

    • Effectiveness of Secondary Risk-Reducing Strategies in Patients With Unilateral Breast Cancer With Pathogenic Variants of BRCA1 and BRCA2 Subjected to Breast-Conserving Surgery: Evidence-Based Simulation Study.
    • Maksimenko J, Rodrigues PP, Nakazawa-Miklaševiča M, Pinto D, Miklaševičs E, Trofimovičs G, Gardovskis J, Cardoso F, Cardoso MJ.
    • JMIR Form Res. 2022 Dec 29;6(12):e37144. doi: 10.2196/37144.

    • 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.

    • 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.

    • Case report: olaparib use in metastatic lung adenocarcinoma with BRCA2 pathogenic variant.
    • Soon Jian Hao J, Hoai CS, Weng DTS, Ngeow J, Chiang J.
    • Cold Spring Harb Mol Case Stud. 2022 Dec 28 [Print 2022 Dec];8(7):a006223. doi: 10.1101/mcs.a006223.

    • LitAlert ~~ GeneLit.com

    • Pathologic complete response following FOLFIRINOX and olaparib treatment for hepatic metastasized pancreatic ductal adenocarcinoma with a germline BRCA mutation.
    • Okada K, Uemura K, Okamoto W, Sumiyoshi T, Shintakuya R, Otsuka H, Serikawa M, Ishii Y, Arihiro K, Takahashi S.
    • Clin J Gastroenterol. 2022 Dec 27. doi: 10.1007/s12328-022-01741-2. Epub ahead of print.
    • Case report

    • CCNE1 and survival of patients with tubo-ovarian high-grade serous carcinoma: An Ovarian Tumor Tissue Analysis consortium study.
    • Kang EY, Weir A, Meagher NS, Farrington K, Nelson GS, Ghatage P, Lee CH, Riggan MJ, Bolithon A, Popovic G, Leung B, Tang K, Lambie N, Millstein J, Alsop J, Anglesio MS, Ataseven B, Barlow E, Beckmann MW, Berger J, Bisinotto C, Bösmüller H, Boros J, Brand AH, Brooks-Wilson A, Brucker SY, Carney ME, Casablanca Y, Cazorla-Jiménez A, Cohen PA, Conrads TP, Cook LS, Coulson P, Courtney-Brooks M, Cramer DW, Crowe P, Cunningham JM, Cybulski C, Darcy KM, El-Bahrawy MA, Elishaev E, Erber R, Farrell R, Fereday S, Fischer A, García MJ, Gayther SA, Gentry-Maharaj A, Gilks CB; AOCS Group, Grube M, Harnett PR, Harrington SP, Harter P, Hartmann A, Hecht JL, Heikaus S, Hein A, Heitz F, Hendley J, Hernandez BY, Polo SH, Heublein S, Hirasawa A, Høgdall E, Høgdall CK, Horlings HM, Huntsman DG, Huzarski T, Jewell A, Jimenez-Linan M, Jones ME, Kaufmann SH, Kennedy CJ, Khabele D, Kommoss FKF, Kruitwagen RFPM, Lambrechts D, Le ND, Lener M, Lester J, Leung Y, Linder A, Loverix L, Lubiński J, Madan R, Maxwell GL, Modugno F, Neuhausen SL, Olawaiye A, Olbrecht S, Orsulic S, Palacios J, Pearce CL, Pike MC, Quinn CM, Mohan GR, Rodríguez-Antona C, Ruebner M, Ryan A, Salfinger SG, Sasamoto N, Schildkraut JM, Schoemaker MJ, Shah M, Sharma R, Shvetsov YB, Singh N, Sonke GS, Steele L, Stewart CJR, Sundfeldt K, Swerdlow AJ, Talhouk A, Tan A, Taylor SE, Terry KL, Tołoczko A, Traficante N, Van de Vijver KK, van der Aa MA, Van Gorp T, Van Nieuwenhuysen E, van-Wagensveld L, Vergote I, Vierkant RA, Wang C, Wilkens LR, Winham SJ, Wu AH, Benitez J, Berchuck A, Candido Dos Reis FJ, DeFazio A, Fasching PA, Goode EL, Goodman MT, Gronwald J, Karlan BY, Kommoss S, Menon U, Sinn HP, Staebler A, Brenton JD, Bowtell DD, Pharoah PDP, Ramus SJ, Köbel M.
    • Cancer. 2022 Dec 26. doi: 10.1002/cncr.34582. Epub ahead of print.

    • Real-world patient-reported outcomes and physician satisfaction with poly (ADP-ribose) polymerase inhibitors versus chemotherapy in patients with germline BRCA1/2-mutated human epidermal growth factor receptor 2-negative advanced breast cancer from the United States, Europe, and Israel.
    • Mahtani R, Niyazov A, Arondekar B, Lewis K, Rider A, Massey L, Lux MP.
    • BMC Cancer. 2022 Dec 22;22(1):1343. doi: 10.1186/s12885-022-10325-9.

    • Determination of BRCAness Phenotype in Breast Tumors for the Appointment of Neoadjuvant Chemotherapy Based on Platinum and Taxanes.
    • Mihajlovich Tsyganov MM, Ibragimova MK, Garbukov EY, Bragina OD, Karchevskaya AA, Usynin EA, Litvyakov NV.
    • Int J Mol Sci. 2022 Dec 22;24(1):207. doi: 10.3390/ijms24010207.

    • LYNPARZA® (olaparib) in Combination With Abiraterone and Prednisone or Prednisolone Approved in the EU as Treatment for Certain Patients With Metastatic Castration-Resistant Prostate Cancer.
    • [No author given]
    • Merck.com . News releases. 2022 Dec 21.

    Related:

    •• Press release: Lynparza in combination with abiraterone approved in the EU as 1st-line treatment for patients with metastatic castration-resistant prostate cancer. (AstraZeneca. Media.)

    • Deep learning identifies morphological patterns of homologous recombination deficiency in luminal breast cancers from whole slide images.
    • Lazard T, Bataillon G, Naylor P, Popova T, Bidard FC, Stoppa-Lyonnet D, Stern MH, Decencière E, Walter T, Vincent-Salomon A..
    • Cell Rep Med. 2022 Dec 20;3(12):100872. doi: 10.1016/j.xcrm.2022.100872. Epub 2022 Dec 13.

    Related:

    •• Commentary:

    HRD-related morphology discovery in breast cancer by controlling for confounding factors.

    • Codelivery of adavosertib and olaparib by tumor-targeting nanoparticles for augmented efficacy and reduced toxicity.
    • Wang W, Xiong Y, Hu X, Lu F, Qin T, Zhang L, Guo E, Yang B, Fu Y, Hu D, Fan J, Qin X, Liu C, Xiao R, Chen G, Li Z, Sun C.
    • Acta Biomater. 2022 Dec 19:S1742-7061(22)00824-8. doi: 10.1016/j.actbio.2022.12.021. Epub ahead of print.

    • 53BP1: Keeping It under Control, Even at a Distance from DNA Damage.
    • Rass E, Willaume S, Bertrand P.
    • Genes (Basel). 2022 Dec 16;13(12):2390. doi: 10.3390/genes13122390.

    • Update on US regulatory priority review of Lynparza in combination with abiraterone in metastatic castration-resistant prostate cancer.
    • Kemp A.
    • AstraZeneca. Media. Press Releases. 2022 Dec 15.

    • BRCA1/2 Reversion Mutations in Patients Treated with Poly ADP-Ribose Polymerase (PARP) Inhibitors or Platinum Agents.
    • Darabi S, Braxton DR, Xiu J, Carneiro BA, Swensen J, Antonarakis ES, Liu SV, McKay RR, Spetzler D, El-Deiry WS, Demeure MJ.
    • Medicina (Kaunas). 2022 Dec 10;58(12):1818. doi: 10.3390/medicina58121818.

    • LitAlert ~~ GeneLit.com

    • Postmastectomy breast reconstruction for women with hereditary gastric and breast cancer syndrome.
    • De Lorenzi F, Borelli F, Catapano S, Alessandri-Bonetti M, Sala P, Veronesi P.
    • Eur J Cancer Prev. 2022 Dec 27. doi: 10.1097/CEJ.0000000000000780. Epub ahead of print.
    • Review

    • Real-world patient-reported outcomes and physician satisfaction with poly (ADP-ribose) polymerase inhibitors versus chemotherapy in patients with germline BRCA1/2-mutated human epidermal growth factor receptor 2-negative advanced breast cancer from the United States, Europe, and Israel.
    • Mahtani R, Niyazov A, Arondekar B, Lewis K, Rider A, Massey L, Lux MP.
    • BMC Cancer. 2022 Dec 22;22(1):1343. doi: 10.1186/s12885-022-10325-9.

    • Clinical Cancer and Direct-to-Consumer Genetic Test Result-Sharing Behavior: Findings from HINTS 2020.
    • Makhnoon S, Yu R, Peterson SK, Shete S.
    • J Pers Med. 2022 Dec 22;13(1):18. doi: 10.3390/jpm13010018.

    • Risk-Reducing Salpingo-Oophorectomy (RRSO) Combined with Simultaneous Mastectomy in Women with BRCA 1-2 Mutation Carriers: The Surgical Technique, the Feasibility and Patients' Satisfaction of Multiple Surgeries.
    • Saccardi C, Spagnol G, Saibene T, De Lorenzo LS, Marchetti M, Bonaldo G, Michieletto S, Toffanin MC, Noventa M, Tozzi R.
    • J Clin Med. 2022 Dec 18;11(24):7502. doi: 10.3390/jcm11247502.

    • LitAlert ~~ GeneLit.com

    • Pathologic complete response following FOLFIRINOX and olaparib treatment for hepatic metastasized pancreatic ductal adenocarcinoma with a germline BRCA mutation.
    • Okada K, Uemura K, Okamoto W, Sumiyoshi T, Shintakuya R, Otsuka H, Serikawa M, Ishii Y, Arihiro K, Takahashi S.
    • Clin J Gastroenterol. 2022 Dec 27. doi: 10.1007/s12328-022-01741-2. Epub ahead of print.
    • Case report

    • CCNE1 and survival of patients with tubo-ovarian high-grade serous carcinoma: An Ovarian Tumor Tissue Analysis consortium study.
    • Kang EY, Weir A, Meagher NS, Farrington K, Nelson GS, Ghatage P, Lee CH, Riggan MJ, Bolithon A, Popovic G, Leung B, Tang K, Lambie N, Millstein J, Alsop J, Anglesio MS, Ataseven B, Barlow E, Beckmann MW, Berger J, Bisinotto C, Bösmüller H, Boros J, Brand AH, Brooks-Wilson A, Brucker SY, Carney ME, Casablanca Y, Cazorla-Jiménez A, Cohen PA, Conrads TP, Cook LS, Coulson P, Courtney-Brooks M, Cramer DW, Crowe P, Cunningham JM, Cybulski C, Darcy KM, El-Bahrawy MA, Elishaev E, Erber R, Farrell R, Fereday S, Fischer A, García MJ, Gayther SA, Gentry-Maharaj A, Gilks CB; AOCS Group, Grube M, Harnett PR, Harrington SP, Harter P, Hartmann A, Hecht JL, Heikaus S, Hein A, Heitz F, Hendley J, Hernandez BY, Polo SH, Heublein S, Hirasawa A, Høgdall E, Høgdall CK, Horlings HM, Huntsman DG, Huzarski T, Jewell A, Jimenez-Linan M, Jones ME, Kaufmann SH, Kennedy CJ, Khabele D, Kommoss FKF, Kruitwagen RFPM, Lambrechts D, Le ND, Lener M, Lester J, Leung Y, Linder A, Loverix L, Lubiński J, Madan R, Maxwell GL, Modugno F, Neuhausen SL, Olawaiye A, Olbrecht S, Orsulic S, Palacios J, Pearce CL, Pike MC, Quinn CM, Mohan GR, Rodríguez-Antona C, Ruebner M, Ryan A, Salfinger SG, Sasamoto N, Schildkraut JM, Schoemaker MJ, Shah M, Sharma R, Shvetsov YB, Singh N, Sonke GS, Steele L, Stewart CJR, Sundfeldt K, Swerdlow AJ, Talhouk A, Tan A, Taylor SE, Terry KL, Tołoczko A, Traficante N, Van de Vijver KK, van der Aa MA, Van Gorp T, Van Nieuwenhuysen E, van-Wagensveld L, Vergote I, Vierkant RA, Wang C, Wilkens LR, Winham SJ, Wu AH, Benitez J, Berchuck A, Candido Dos Reis FJ, DeFazio A, Fasching PA, Goode EL, Goodman MT, Gronwald J, Karlan BY, Kommoss S, Menon U, Sinn HP, Staebler A, Brenton JD, Bowtell DD, Pharoah PDP, Ramus SJ, Köbel M.
    • Cancer. 2022 Dec 26. doi: 10.1002/cncr.34582. Epub ahead of print.

    • Real-world patient-reported outcomes and physician satisfaction with poly (ADP-ribose) polymerase inhibitors versus chemotherapy in patients with germline BRCA1/2-mutated human epidermal growth factor receptor 2-negative advanced breast cancer from the United States, Europe, and Israel.
    • Mahtani R, Niyazov A, Arondekar B, Lewis K, Rider A, Massey L, Lux MP.
    • BMC Cancer. 2022 Dec 22;22(1):1343. doi: 10.1186/s12885-022-10325-9.

    • Determination of BRCAness Phenotype in Breast Tumors for the Appointment of Neoadjuvant Chemotherapy Based on Platinum and Taxanes.
    • Mihajlovich Tsyganov MM, Ibragimova MK, Garbukov EY, Bragina OD, Karchevskaya AA, Usynin EA, Litvyakov NV.
    • Int J Mol Sci. 2022 Dec 22;24(1):207. doi: 10.3390/ijms24010207.

    • Performance of risk prediction models in breast cancer screening among women in Cyprus.
    • Danladi C, Serakinci N.
    • East Mediterr Health J. 2022 Dec 21;28(12):888-895. doi: 10.26719/emhj.22.089.

    • LYNPARZA® (olaparib) in Combination With Abiraterone and Prednisone or Prednisolone Approved in the EU as Treatment for Certain Patients With Metastatic Castration-Resistant Prostate Cancer.
    • [No author given]
    • Merck.com . News releases. 2022 Dec 21.

    Related:

    •• Press release: Lynparza in combination with abiraterone approved in the EU as 1st-line treatment for patients with metastatic castration-resistant prostate cancer. (AstraZeneca. Media.)

    • Deep learning identifies morphological patterns of homologous recombination deficiency in luminal breast cancers from whole slide images.
    • Lazard T, Bataillon G, Naylor P, Popova T, Bidard FC, Stoppa-Lyonnet D, Stern MH, Decencière E, Walter T, Vincent-Salomon A..
    • Cell Rep Med. 2022 Dec 20;3(12):100872. doi: 10.1016/j.xcrm.2022.100872. Epub 2022 Dec 13.

    Related:

    •• Commentary:

    HRD-related morphology discovery in breast cancer by controlling for confounding factors.

    • BRCA1/2 Reversion Mutations in Patients Treated with Poly ADP-Ribose Polymerase (PARP) Inhibitors or Platinum Agents.
    • Darabi S, Braxton DR, Xiu J, Carneiro BA, Swensen J, Antonarakis ES, Liu SV, McKay RR, Spetzler D, El-Deiry WS, Demeure MJ.
    • Medicina (Kaunas). 2022 Dec 10;58(12):1818. doi: 10.3390/medicina58121818.

    • LitAlert ~~ GeneLit.com

    • Postmastectomy breast reconstruction for women with hereditary gastric and breast cancer syndrome.
    • De Lorenzi F, Borelli F, Catapano S, Alessandri-Bonetti M, Sala P, Veronesi P.
    • Eur J Cancer Prev. 2022 Dec 27. doi: 10.1097/CEJ.0000000000000780. Epub ahead of print.
    • Review

    • Clinical Cancer and Direct-to-Consumer Genetic Test Result-Sharing Behavior: Findings from HINTS 2020.
    • Makhnoon S, Yu R, Peterson SK, Shete S.
    • J Pers Med. 2022 Dec 22;13(1):18. doi: 10.3390/jpm13010018.

    • Cancer prevention in cancer predisposition syndromes: A protocol for testing the feasibility of building a hereditary cancer research registry and nurse navigator follow up model.
    • Etchegary H, Pike A, Puddester R, Watkins K, Warren M, Francis V, Woods M, Green J, Savas S, Seal M, Gao Z, Avery S, Curtis F, McGrath J, MacDonald D, Burry TN, Dawson L.
    • PLoS One. 2022 Dec 22;17(12):e0279317. doi: 10.1371/journal.pone.0279317.

    • LitAlert ~~ GeneLit.com

    • Postmastectomy breast reconstruction for women with hereditary gastric and breast cancer syndrome.
    • De Lorenzi F, Borelli F, Catapano S, Alessandri-Bonetti M, Sala P, Veronesi P.
    • Eur J Cancer Prev. 2022 Dec 27. doi: 10.1097/CEJ.0000000000000780. Epub ahead of print.
    • Review

    • Cancer prevention in cancer predisposition syndromes: A protocol for testing the feasibility of building a hereditary cancer research registry and nurse navigator follow up model.
    • Etchegary H, Pike A, Puddester R, Watkins K, Warren M, Francis V, Woods M, Green J, Savas S, Seal M, Gao Z, Avery S, Curtis F, McGrath J, MacDonald D, Burry TN, Dawson L.
    • PLoS One. 2022 Dec 22;17(12):e0279317. doi: 10.1371/journal.pone.0279317.

    • Risk-Reducing Salpingo-Oophorectomy (RRSO) Combined with Simultaneous Mastectomy in Women with BRCA 1-2 Mutation Carriers: The Surgical Technique, the Feasibility and Patients' Satisfaction of Multiple Surgeries.
    • Saccardi C, Spagnol G, Saibene T, De Lorenzo LS, Marchetti M, Bonaldo G, Michieletto S, Toffanin MC, Noventa M, Tozzi R.
    • J Clin Med. 2022 Dec 18;11(24):7502. doi: 10.3390/jcm11247502.