LitAlert ~~ GeneLit.com

    • 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.
  • 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.
    • Predicting Openness of Communication in Families With Hereditary Breast and Ovarian Cancer Syndrome: Natural Language Processing Analysis.
    • Baroutsou V, Cerqueira Gonzalez Pena R, Schweighoffer R, Caiata-Zufferey M, Kim S, Hesse-Biber S, Ciorba FM, Lauer G, Katapodi M; CASCADE Consortium.
    • JMIR Form Res. 2023 Jan 19;7:e38399. doi: 10.2196/38399.
    • 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.
    • 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.

    •• 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

    • 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.
    • 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.

    •• 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

    • 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.
    • 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.
    • 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.

    •• 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

    • Real-World Efficacy and Safety of PARP Inhibitors in Recurrent Ovarian Cancer Patients With Somatic BRCA and Other Homologous Recombination Gene Mutations.
    • Pan YE, Hood A, Ahmad H, Altwerger G.
    • Ann Pharmacother. 2023 Jan 18:10600280221149136. doi: 10.1177/10600280221149136. Epub ahead of print.
    • Discrimination between Complete versus Non-Complete Pathologic Response to Neoadjuvant Therapy Using Ultrasensitive Mutation Analysis: A Proof-of-Concept Study in BRCA1-Driven Breast Cancer Patients.
    • Sokolenko AP, Moiseyenko FV, Iyevleva AG, Ivantsov AO, Dolmatov GD, Shelekhova KV, Gulo EV, Topal AX, Artemieva EV, Abduloeva NH, Rysev NA, Barsova DA, Levchenko NV,, Volkov NM, Egorenkov VV, Moiseyenko VM, Imyanitov EN.
    • Int J Mol Sci. 2023 Jan 18;24(3):1870. doi: 10.3390/ijms24031870.
    • Novel Agents in the Adjuvant Setting: PARP Inhibitors.
    • Geyer C, Krop IE.
    • OncLive. OncLive NewsNetwork. 2023 Jan 18.
    • Economic value of knowing BRCA status: BRCA testing for prostate cancer prevention and optimal treatment.
    • Oh M, McBride A, Bhattacharjee S, Slack M, Jeter J, Abraham I.
    • Expert Rev Pharmacoecon Outcomes Res. 2023 Jan 17. doi: 10.1080/14737167.2023.2169137. Epub ahead of print.
    • Positive response to Niraparib in chemo-refractory patient with metastatic appendiceal mucinous adenocarcinoma harboring ATM mutations: a case report.
    • Wang J, He H, Xu W, Chen J.
    • Front Oncol. 2023 Jan 17;12:1010871. doi: 10.3389/fonc.2023.1010871.
    • CRISPR screens reveal genetic determinants of PARP inhibitor sensitivity and resistance in prostate cancer.
    • Tsujino T, Takai T, Hinohara K, Gui F, Tsutsumi T, Bai X, Miao C, Feng C, Gui B, Sztupinszki Z, Simoneau A, Xie N, Fazli L, Dong X, Azuma H, Choudhury AD, Mouw KW, Szallasi Z, Zou L, Kibel AS, Jia L.
    • Nat Commun. 2023 Jan 17;14(1):252. doi: 10.1038/s41467-023-35880-y.
    • Genetic Analysis Helps Maximize Clinical Benefit with PARP Inhibitors in BRCA+ Ovarian Cancer.
    • Flaherty C, Guntupalli S.
    • OncLive. 2023 Jan 17.
    • Dr. Alldredge on Symptom Management in Ovarian Cancer During PARP Inhibitor Treatment.
    • Alldredge J.
    • OncLive. OncLive TV. 2023 Jan 17.
    • Incorporating alternative Polygenic Risk Scores into the BOADICEA breast cancer risk prediction model.
    • Mavaddat N, Ficorella L, Carver T, Lee A, Cunningham AP, Lush M, Dennis J, Tischkowitz M, Downes K, Hu D, Hahnen E, Schmutzler RK, Stockley TL, Downs GS, Zhang T, Chiarelli AM, Bojesen SE, Liu C, Chung WK, Pardo M, Feliubadaló L, Balmaña J, Simard J, Antoniou AC, Easton DF.
    • Cancer Epidemiol Biomarkers Prev. 2023 Jan 13:EPI-22-0756. doi: 10.1158/1055-9965.EPI-22-0756. Epub ahead of print.
    • Racial Differences in Germline Genetic Testing for Prostate Cancer: A Systematic Review.
    • Briggs LG, Steele GL, Qian ZJ, Subbana S, Alkhatib KY, Labban M, Langbein BJ, Nguyen DD, Cellini J, Kilbridge K, Kibel AS, Trinh QD, Rana HQ, Cole AP.
    • JCO Oncol Pract. 2023 Jan 12:OP2200634. doi: 10.1200/OP.22.00634. Epub ahead of print.
    • Review
    • Implementation of a Telehealth Genetic Testing Station to Deliver Germline Testing for Men With Prostate Cancer.
    • Kwon DH, Gordon KM, Tong B, Borno HT, Beigh M, Fattah D, Schleicher A, Aggarwal RR, Blanco AM, Small EJ, Dhawan M.
    • JCO Oncol Pract. 2023 Jan 12:OP2200638. doi: 10.1200/OP.22.00638. Epub ahead of print.
  • LitAlert ~~ GeneLit.com

    • Positive response to Niraparib in chemo-refractory patient with metastatic appendiceal mucinous adenocarcinoma harboring ATM mutations: a case report.
    • Wang J, He H, Xu W, Chen J.
    • Front Oncol. 2023 Jan 17;12:1010871. doi: 10.3389/fonc.2023.1010871.
    • CRISPR screens reveal genetic determinants of PARP inhibitor sensitivity and resistance in prostate cancer.
    • Tsujino T, Takai T, Hinohara K, Gui F, Tsutsumi T, Bai X, Miao C, Feng C, Gui B, Sztupinszki Z, Simoneau A, Xie N, Fazli L, Dong X, Azuma H, Choudhury AD, Mouw KW, Szallasi Z, Zou L, Kibel AS, Jia L.
    • Nat Commun. 2023 Jan 17;14(1):252. doi: 10.1038/s41467-023-35880-y.
    • Genetic Analysis Helps Maximize Clinical Benefit with PARP Inhibitors in BRCA+ Ovarian Cancer.
    • Flaherty C, Guntupalli S.
    • OncLive. 2023 Jan 17.
    • Dr. Alldredge on Symptom Management in Ovarian Cancer During PARP Inhibitor Treatment.
    • Alldredge J.
    • OncLive. OncLive TV. 2023 Jan 17.
    • Incorporating alternative Polygenic Risk Scores into the BOADICEA breast cancer risk prediction model.
    • Mavaddat N, Ficorella L, Carver T, Lee A, Cunningham AP, Lush M, Dennis J, Tischkowitz M, Downes K, Hu D, Hahnen E, Schmutzler RK, Stockley TL, Downs GS, Zhang T, Chiarelli AM, Bojesen SE, Liu C, Chung WK, Pardo M, Feliubadaló L, Balmaña J, Simard J, Antoniou AC, Easton DF.
    • Cancer Epidemiol Biomarkers Prev. 2023 Jan 13:EPI-22-0756. doi: 10.1158/1055-9965.EPI-22-0756. Epub ahead of print.
    • Racial Differences in Germline Genetic Testing for Prostate Cancer: A Systematic Review.
    • Briggs LG, Steele GL, Qian ZJ, Subbana S, Alkhatib KY, Labban M, Langbein BJ, Nguyen DD, Cellini J, Kilbridge K, Kibel AS, Trinh QD, Rana HQ, Cole AP.
    • JCO Oncol Pract. 2023 Jan 12:OP2200634. doi: 10.1200/OP.22.00634. Epub ahead of print.
    • Review
    • Implementation of a Telehealth Genetic Testing Station to Deliver Germline Testing for Men With Prostate Cancer.
    • Kwon DH, Gordon KM, Tong B, Borno HT, Beigh M, Fattah D, Schleicher A, Aggarwal RR, Blanco AM, Small EJ, Dhawan M.
    • JCO Oncol Pract. 2023 Jan 12:OP2200638. doi: 10.1200/OP.22.00638. Epub ahead of print.
  • LitAlert ~~ GeneLit.com

    • Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.
    • Adam F, Fluri M, Scherz A, Rabaglio M.
    • BMC Med Genomics. 2023 Jan 16;16(1):7. doi: 10.1186/s12920-023-01437-7.
    • Comments on .
    • Kratz CP, Evans DG.
    • Int J Cancer. 2023 Jan 16. doi: 10.1002/ijc.34432. Epub ahead of print.
    • Letter. Commentary

    •• Reply:

    Reply to: Comments on .

    •• Original research:

    The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients.

  • LitAlert ~~ GeneLit.com

    • 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.
    • Long-term risk of cancer among the first-degree relatives of epithelial ovarian cancer patients: A cohort study with 48 years of follow up.
    • Kotaniemi-Talonen L, Pukkala E, Aittomäki K, Auranen A.
    • Acta Obstet Gynecol Scand. 2023 Jan 16. doi: 10.1111/aogs.14504. Epub ahead of print.
    • Estimating copy number to determine BRCA2 deletion status and to expect prognosis in localized prostate cancer.
    • Nukaya T, Sumitomo M, Sugihara E, Takeda M, Nohara S, Tanishima S, Takenaka M, Zennami K, Takahara K, Shiroki R, Saya H.
    • Cancer Med. 2023 Jan 16. doi: 10.1002/cam4.5617. Epub ahead of print.
    • Factors that influence the management recommendations breast surgeons provide to women with pathogenic variants in moderate penetrance breast cancer susceptibility genes.
    • Vanderwal A, Lewis J, Basil J, Atzinger C, Widmeyer K.
    • J Genet Couns. 2023 Jan 15. doi: 10.1002/jgc4.1674. Epub ahead of print.
    • A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer.
    • Soleimani T, Bourdon C, Davis J, Fortes T.
    • Clin Case Rep. 2023 Jan 11 [eCollection 2023 Jan];11(1):e6820. doi: 10.1002/ccr3.6820.
    • First-line Rucaparib Plus Bevacizumab Maintenance Completed One-Year in Germline BRCA1-Mutated Advanced Ovarian Cancer.
    • Roy S, Ghosh J, Ganguly S, Biswas B, Bhaumik J.
    • Cureus. 2022 Dec 13;14(12):e32493. doi: 10.7759/cureus.32493.
  • LitAlert ~~ GeneLit.com

    • Predictors of Women’s Intentions to Communicate Updated Genetic Test Results to Immediate and Extended Family Members.
    • Winskill C, Goodman MS, Daly BM, Elrick A, Mooney R, Espinel W, Kohlmann W, Kaphingst KA.
    • Public Health Genomics. 2023 Jan 14 :1-20. doi: 10.1159/000528522. Epub ahead of print.
    • 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.
    • Approaches to fertility preservation for young women with breast cancer.
    • Razeti MG, Soldato D, Arecco L, Levaggi A, Puglisi S, Solinas C, Agostinetto E, Spinaci S, Lapuchesky L, Genova C, Massarotti C, Lambertini M.
    • Clin Breast Cancer. 2023 Jan 13:S1526-8209(23)00006-X. doi: 10.1016/j.clbc.2023.01.006. Epub ahead of print.
    • Review
    • 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.
    • Environmental impact on carcinogenesis under BRCA1 haploinsufficiency.
    • Toyokuni S, Kong Y, Motooka Y, Akatsuka S.
    • Genes Environ. 2023 Jan 13;45(1):2. doi: 10.1186/s41021-023-00258-5.
    • Hormone replacement therapy in BRCA mutation carriers: how shall we do no harm?
    • Loizzi V, Dellino M, Cerbone M, Arezzo F, Chiariello G, Lepera A, Cazzato G, Cascardi E, Damiani GR, Cicinelli E, Cormio G.
    • Hormones (Athens). 2023 Jan 13. doi: 10.1007/s42000-022-00427-1. Epub ahead of print.
    • Review
    • DNA Repair Deficiency as Circulating Biomarker in Prostate Cancer.
    • Roviello G, Generali D, Gatti M, Riboli B, Paganini L, Nesi G, Catalano M.
    • Front Oncol. 2023 Jan 12;12:1115241. doi: 10.3389/fonc.2023.1115241.
    • Efficacy of chemotherapy according to BRCA status in patients with high-grade serous ovarian carcinoma at first platinum-sensitive relapse.
    • Brouillard-Saby F, Saint-Martin C, Ray-Coquard I, Gladieff L, Pomel C, Colombo PE, Classe JM, Chevrier M, Joly F, De la Motte Rouge T, Floquet A, Sabatier R, Barranger E, Costaz H, Leblanc E, Marchal F, Pautier P, Bosquet L, Rodrigues M.
    • Int J Gynecol Cancer. 2023 Jan 11:ijgc-2022-003993. doi: 10.1136/ijgc-2022-003993. Epub ahead of print.
    • Optimizing choices and sequences in the diagnostic-therapeutic landscape of advanced triple-negative breast cancer: An Italian consensus paper and critical review.
    • Miglietta F, Fabi A, Generali D, Dieci MV, Arpino G, Bianchini G, Cinieri S, Conte PF, Curigliano G, De Laurentis M, Del Mastro L, De Placido S, Gennari A, Puglisi F, Zambelli A, Perrone F, Guarneri V.
    • Cancer Treat Rev. 2023 Jan 6;114:102511. doi: 10.1016/j.ctrv.2023.102511. Epub ahead of print.
    • Cancer Risk Associated With PTEN Pathogenic Variants Identified Using Multigene Hereditary Cancer Panel Testing.
    • Cummings S, Alfonso A, Hughes E, Kucera M, Mabey B, Singh N, Eng C.
    • JCO Precis Oncol. 2023 Jan;7:e2200415. doi: 10.1200/PO.22.00415.