Category: General

LitAlert ~~ GeneLit.com

    • Association of a novel BRCA2 mutation with prostate cancer risk further supports germline genetic testing.
    • Foley GR, Marthick JR, Ostrander EA, Stanford JL, Dickinson JL, FitzGerald L.
    • Eur J Cancer. 2023 Feb 1;180:155-157. doi: 10.1016/j.ejca.2022.11.034. Epub ahead of print.
    • Case report

    • Treatment Complexities Continue to Mount in Gynecologic Cancers.
    • Lovely B.
    • OncLive. OncologyLive. 2023 Jan 3;23(24):35.

    • 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.

    • LitAlert ~~ GeneLit.com

    • 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.

    • Prognostic relevance of HRDness gene expression signature in ovarian high-grade serous carcinoma; JGOG3025-TR2 study.
    • Takamatsu S, Yoshihara K, Baba T, Shimada M, Yoshida H, Kajiyama H, Oda K, Mandai M, Okamoto A, Enomoto T, Matsumura N.
    • Br J Cancer. 2023 Jan 2. doi: 10.1038/s41416-022-02122-9. Epub ahead of print.

    • Prevalence of Germline BRCA1/2 Variants in Ashkenazi and Non-Ashkenazi Prostate Cancer Populations: A Systematic Review and Meta-Analysis.
    • Cioffi A, De Cobelli O, Veronesi P, La Vecchia C, Maisonneuve P, Corso G.
    • Cancers (Basel). 2023 Jan 2;15(1):306. doi: 10.3390/cancers15010306.

    • The Role of Hormonal Replacement Therapy in BRCA Mutated Patients: Lights and Shadows.
    • Loizzi V, Dellino M, Cerbone M, Arezzo F, Cazzato G, Damiani GR, Pinto V, Silvestris E, Kardhashi A, Cicinelli E, Cascardi E, Cormio G.
    • Int J Mol Sci. 2023 Jan 1;24(1):764. doi: 10.3390/ijms24010764.

    • Widespread genomic/molecular alterations of DNA helicases and their clinical/therapeutic implications across human cancer.
    • Qin X, Wang J, Wang X, Huang T, Fang Z, Yan L, Fan Y, Xu D.
    • Biomed Pharmacother. 2022 Dec 29;158:114193. doi: 10.1016/j.biopha.2022.114193. Epub ahead of print.

    • Development of a comprehensive approach to adult hereditary cancer testing in Ontario.
    • Bell KA, Kim R, Aronson M, Gillies B, Ali Awan A, Chun K, Hart J, Healey R, Kim L, Klaric G, Panabaker K, Sabatini PJB, Sadikovic B, Selvarajah S, Smith AC, Stockley TL, Vaags AK, Eisen A, Pollett A, Feilotter H.
    • J Med Genet. 2022 Dec 23:jmg-2022-108945. doi: 10.1136/jmg-2022-108945. Epub ahead of print.

    • Parent-of-origin detection and chromosome-scale haplotyping using long-read DNA methylation sequencing and Strand-seq.
    • Akbari V, Hanlon VCT, O’Neill K, Lefebvre L, Schrader KA, Lansdorp PM, Jones SJM.
    • Cell Genom. 2021 Dec 21. doi: 10.1016/j.xgen.2022.100233. Epub ahead of print.

    Related:

    •• Research news: Genetic Test Identifies Parental Source of Cancer Variant. (Medscape Oncology)

    • Next-generation sequencing of homologous recombination genes could predict efficacy of platinum-based chemotherapy in non-small cell lung cancer.
    • Zhang L, Guan S, Meng F, Teng L, Zhong D.
    • Front Oncol. 2022 Dec 14;12:1035808. doi: 10.3389/fonc.2022.1035808.

    • The use of Ctrough for the therapeutic drug monitoring of olaparib in patients with ovarian cancer.
    • Stanisławiak-Rudowicz J, Szałek E, Grzebalska M, Urjasz H, Michalak M, Mądry R, Grześkowiak E.
    • Eur Rev Med Pharmacol Sci. 2022 Dec;26(24):9426-9436. doi: 10.26355/eurrev_202212_30694.

    • LitAlert ~~ GeneLit.com

    • Contralateral Prophylactic Mastectomy among Women with Pathogenic Variants in BRCA1/2: Overall Survival, Racial, and Ethnic Differences.
    • Makhnoon S, Gutierrez Barrera AM, Bassett R, Afrough A, Bedrosian I, Arun BK.
    • Breast J. 2022 Dec 31. doi: 10.1155/2022/1447545. Online ahead of print.

    • 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.

    • 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

    • 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

    • 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.

    • LitAlert ~~ GeneLit.com

    • The risks of cancer in older women with BRCA pathogenic variants: How far have we come?
    • Metcalfe KA, Gronwald J, Tung NM, McCuaig JM, Eisen A, Elser C, Foulkes WD, Neuhausen SL, Senter L, Moller P, Bordeleau L, Fruscio R, Velsher L, Zakalik D, Olopade OI, Eng C, Pal T, Cullinane CA, Couch FJ, Kotsopoulos J, Sun P, Lubinski J, Narod SA.
    • Cancer. 2022 Dec 26. doi: 10.1002/cncr.34615. Epub ahead of print.

    • Mechanisms of PARP1 inhibitor resistance and their implications for cancer treatment.
    • Jackson LM, Moldovan GL.
    • NAR Cancer. 2022 Dec 22;4(4):zcac042. doi: 10.1093/narcan/zcac042.

    • Natural phytochemicals prevent side effects in BRCA-mutated ovarian cancer and PARP inhibitor treatment.
    • Wang C, Gao P, Xu J, Liu S, Tian W, Liu J, Zhou L.
    • Front Pharmacol. 2022 Dec 7;13:1078303. doi: 10.3389/fphar.2022.1078303.

    • December 2022 Editor’s Choice: Exceptional PARP inhibitor responders: the good and the bad.
    • Matulonis U, O'Malley D.
    • Gynecol Oncol. Podcasts. 2022 Dec.

    Related:

    •• Original research:

    Clinical and molecular characteristics of ARIEL3 patients who derived exceptional benefit from rucaparib maintenance treatment for high-grade ovarian carcinoma.

    • LitAlert ~~ GeneLit.com

    • Australasian Genetic Counselors’ Perceptions of Their Role in Supporting Clients’ Behavior Change.
    • Jacobs C, Turbitt E, McEwen A, Atkins L.
    • J Pers Med. 2022 Dec 23;13(1):30. doi: 10.3390/jpm13010030.

    • The neglected role of preimplantation genetic testing for Lynch syndrome.
    • Dallagiovanna C, Filippi F, Riccaboni A, Vigano' P, Martinelli F, Somigliana E, Ricci MT, Vitellaro M.
    • Reprod Biomed Online. 2022 Dec 5:S1472-6483(22)00832-X. doi: 10.1016/j.rbmo.2022.12.001. Epub ahead of print.

    • Polθ Inhibition: An Anticancer Therapy for HR-Deficient Tumours.
    • Barszczewska-Pietraszek G, Drzewiecka M, Czarny P, Skorski T, Śliwiński T.
    • Int J Mol Sci. 2022 Dec 13;23(24):15789. doi: 10.3390/ijms232415789.

    • LitAlert ~~ GeneLit.com

    • All HER2-negative breast cancer patients need gBRCA testing: cost-effectiveness and clinical benefits.
    • Wu HL, Luo ZY, He ZL, Gong Y, Mo M, Ming WK, Liu GY.
    • Br J Cancer. 2022 Dec 23. doi: 10.1038/s41416-022-02111-y. Epub ahead of print.

    • Trabectedin plus pegylated liposomal doxorubicin in patients with disease progression after PARP inhibitor maintenance: a real-life case-control study.
    • Vertechy L, Boccia SM, Tiberi G, Avesani G, Corrado G, Fagotti A, Scambia G, Marchetti C.
    • Int J Gynecol Cancer. 2022 Dec 23:ijgc-2022-003764. doi: 10.1136/ijgc-2022-003764. Epub ahead of print.

    • 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.

    • Association of location of BRCA1 and BRCA2 mutations with benefit from olaparib and bevacizumab maintenance in high-grade ovarian cancer: phase III PAOLA-1/ENGOT-ov25 trial subgroup exploratory analysis.
    • Labidi-Galy SI, Rodrigues M, Sandoval JL, Kurtz JE, Heitz F, Mosconi AM, Romero I, Denison U, Nagao S, Vergote I, Parma G, Nøttrup TJ, Rouleau E, Garnier G, El-Balat A, Zamagni C, Martín-Lorente C, Pujade-Lauraine E, Fiévet A, Ray-Coquard IL.
    • Ann Oncol. 2022 Nov 28:S0923-7534(22)04733-0. doi: 10.1016/j.annonc.2022.11.003. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • 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.

    • 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.

    • 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.