LitAlert ~~ GeneLit.com

    • Emergence of BRCA Reversion Mutations in Patients with Metastatic Castration-resistant Prostate Cancer After Treatment with Rucaparib.
    • Loehr A, Hussain A, Patnaik A, Bryce AH, Castellano D, Font A, Shapiro J, Zhang J, Sautois B, Vogelzang NJ, Chatta G, Courtney K, Harzstark A, Ricci F, Despain D, Watkins S, King C, Nguyen M, Simmons AD, Chowdhury S, Abida W.
    • Eur Urol. 2022 Oct 12:S0302-2838(22)02639-2. doi: 10.1016/j.eururo.2022.09.010. Epub ahead of print.
    • Hereditary cancer variants and homologous recombination deficiency in biliary tract cancer.
    • Okawa Y, Iwasaki Y, Johnson TA, Ebata N, Inai C, Endo M, Maejima K, Sasagawa S, Fujita M, Matsuda K, Murakami Y, Nakamura T, Hirano S, Momozawa Y, Nakagawa H.
    • J Hepatol. 2022 Oct 12:S0168-8278(22)03137-3. doi: 10.1016/j.jhep.2022.09.025. Epub ahead of print.
  • LitAlert ~~ GeneLit.com

    • Efficacy of platinum-based and non-platinum-based drugs on triple-negative breast cancer: meta-analysis.
    • Lin C, Cui J, Peng Z, Qian K, Wu R, Cheng Y, Yin W.
    • Eur J Med Res. 2022 Oct 15;27(1):201. doi: 10.1186/s40001-022-00839-0.
    • DNA methylation of the immediate upstream region of BRCA1 major transcription start sites is an independent favorable prognostic factor in patients with high-grade serous ovarian cancer.
    • Ebata T, Yamashita S, Takeshima H, Yoshida H, Kawata Y, Kino N, Yasugi T, Terao Y, Yonemori K, Kato T, Ushijima T.
    • Gynecol Oncol. 2022 Oct 14:S0090-8258(22)01881-9. doi: 10.1016/j.ygyno.2022.10.008. Epub ahead of print.
    • Association of Treatment Response with Clinicopathological Characteristics in Female Breast Cancer Patients: Genomic Insights for Future Implementation of Personalized Medicine in Egypt.
    • Nakhla S, Elhameed AA, Ali IM, Elnaggar M, Hassan R, Yousef M, Adel K, Saleh W, Gaber M, Kotze MJ, El-Sharkawy RM.
    • Front Genet. 2022 Oct 12;12:990669. doi: 10.3389/fgene.2022.990669.
    • Overall survival in the OlympiA phase III trial of adjuvant olaparib in patients with germline pathogenic variants in BRCA1/2 and high risk, early breast cancer.
    • Geyer CE Jr, Garber JE, Gelber RD, Yothers G, Taboada M, Ross L, Rastogi P, Cui K, Arahmani A, Aktan G, Armstrong AC, Arnedos M, Balmaña J, Bergh J, Bliss J, Delaloge S, Domchek SM, Eisen A, Elsafy F, Fein LE, Fielding A, Ford JM, Friedman S, Gelmon KA, Gianni L, Gnant M, Hollingsworth SJ, Im SA, Jager A, Jóhannsson ÓÞ, Lakhani SR, Janni W, Linderholm B, Liu TW, Loman N, Korde L, Loibl S, Lucas PC, Marmé F, Martinez de Dueñas E, McConnell R, Phillips KA, Piccart M, Rossi G, Schmutzler R, Senkus E, Shao Z, Sharma P, Singer CF, Španic T, Stickeler E, Toi M, Traina TA, Viale G, Zoppoli G, Park YH, Yerushalmi R, Yang H, Pang D, Jung KH, Mailliez A, Fan Z, Tennevet I, Zhang J, Nagy T, Sonke GS, Sun Q, Parton M, Colleoni MA, Schmidt M, Brufsky AM, Razaq W, Kaufman B, Cameron D, Campbell C, Tutt ANJ; OlympiA Clinical Trial Steering Committee and Investigators.
    • Ann Oncol. 2022 Oct 10:S0923-7534(22)04165-5. doi: 10.1016/j.annonc.2022.09.159. Epub ahead of print.
    • PD-L1-Positive High-Grade Triple-Negative Breast Cancer Patients Respond Better to Standard Neoadjuvant Treatment-A Retrospective Study of PD-L1 Expression in Relation to Different Clinicopathological Parameters.
    • Stanowska O, Kuczkiewicz-Siemion O, Debowska M, Olszewski WP, Jagiello-Gruszfeld A, Tysarowski A, Prochorec-Sobieszek M.
    • J Clin Med. 2022 Sep 21;11(19):5524. doi: 10.3390/jcm11195524.
  • LitAlert ~~ GeneLit.com

    • Genetic Testing Challenges in Oncology: Missed Variant Update Delays Li-Fraumeni Diagnosis.
    • Ray T.
    • Precision Oncology News. 2022 Oct 12.

    Special article:

    Is there a duty to reinterpret genetic data? The ethical dimensions.

    • PARP-inhibition reprograms macrophages toward an anti-tumor phenotype.
    • Wang L, Wang D, Sonzogni O, Ke S, Wang Q, Thavamani A, Batalini F, Stopka SA, Regan MS, Vandal S, Tian S, Pinto J, Cyr AM, Bret-Mounet VC, Baquer G, Eikesdal HP, Yuan M, Asara JM, Heng YJ, Bai P, Agar NYR, Wulf GM.
    • Cell Rep. 2022 Oct 11;41(2):111462. doi: 10.1016/j.celrep.2022.111462.
  • LitAlert ~~ GeneLit.com

    • An updated counseling framework for moderate-penetrance colorectal cancer susceptibility genes.
    • Breen KE, Katona BW, Catchings A, Ranganathan M, Marcell V, Latham A, Yurgelun MB, Stadler ZK.
    • Genet Med. 2022 Oct 12:S1098-3600(22)00918-2. doi: 10.1016/j.gim.2022.08.027. Epub ahead of print.
    • Niraparib Maintenance Produces Long-Term Benefit in Advanced Ovarian Cancer, Irrespective of HRD Status.
    • Scott R, González-Martín A.
    • OncLive. 2022 Oct 12.

    Conference abstract:

    530P PRIMA/ENGOT-OV26/GOG-3012 study: Updated long-term PFS and safety.

    Identifier: NCT02655016: A Study of Niraparib (GSK3985771) Maintenance Treatment in Participants With Advanced Ovarian Cancer Following Response on Front-Line Platinum-Based Chemotherapy. (ClinicalTrials.gov . Accessed 2022 Oct 12.)

    Video: Dr. González-Martín on Updated PFS Data From the PRIMA Trial in Advanced Ovarian Cancer. (OncLive TV)

  • LitAlert ~~ GeneLit.com

    • A novel germline mutation of TP53 with breast cancer diagnosed as Li-Fraumeni syndrome.
    • Kai M, Kubo M, Shikada S, Hayashi S, Morisaki T, Yamada M, Takao Y, Shimazaki A, Harada Y, Kaneshiro K, Mizuuchi Y, Shindo K, Nakamura M.
    • Surg Case Rep. 2022 Oct 11;8(1):197. doi: 10.1186/s40792-022-01546-y.
    • Targeted Therapy in Metastatic Breast Cancer for Patients with BRCA Mutations.
    • Dietrich M, Ball E, McKenzie A, Vidal G.
    • OncLive. Peer Exchange. 2022 Oct 10.
    • Ovarian Cancer Therapy: Homologous Recombination Deficiency as a Predictive Biomarker of Response to PARP Inhibitors.
    • Miller RE, Elyashiv O, El-Shakankery KH, Ledermann JA.
    • Onco Targets Ther. 2022 Oct 4;15:1105-1117. doi: 10.2147/OTT.S272199.
    • Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci.
    • DeVries AA, Dennis J, Tyrer JP, Peng PC, Coetzee SG, Reyes AL, Plummer JT, Davis BD, Chen SS, Dezem FS, Aben KKH, Anton-Culver H, Antonenkova NN, Beckmann MW, Beeghly-Fadiel A, Berchuck A, Bogdanova NV, Bogdanova-Markov N, Brenton JD, Butzow R, Campbell I, Chang-Claude J, Chenevix-Trench G, Cook LS, DeFazio A, Doherty JA, Dörk T, Eccles DM, Eliassen AH, Fasching PA, Fortner RT, Giles GG, Goode EL, Goodman MT, Gronwald J; OPAL Study Group; AOCS Group, Håkansson N, Hildebrandt MAT, Huff C, Huntsman DG, Jensen A, Kar S, Karlan BY, Khusnutdinova EK, Kiemeney LA, Kjaer SK, Kupryjanczyk J, Labrie M, Lambrechts D, Le ND, Lubinski J, May T, Menon U, Milne RL, Modugno F, Monteiro AN, Moysich KB, Odunsi K, Olsson H, Pearce CL, Pejovic T, Ramus SJ, Riboli E, Riggan MJ, Romieu I, Sandler DP, Schildkraut JM, Setiawan VW, Sieh W, Song H, Sutphen R, Terry KL, Thompson PJ, Titus L, Tworoger SS, Van Nieuwenhuysen E, Edwards DV, Webb PM, Wentzensen N, Whittemore AS, Wolk A, Wu AH, Ziogas A, Freedman ML, Lawrenson K, Pharoah PDP, Easton DF, Gayther SA, Jones MR.
    • J Natl Cancer Inst. 2022 Oct 10:djac160. doi: 10.1093/jnci/djac160. Epub ahead of print.
  • LitAlert ~~ GeneLit.com

    • Emerging Targeted Therapies for Early Breast Cancer.
    • Schlam I, Tarantino P, Morganti S, Lynce F, Trapani D, Mayer EL, Garrido-Castro AC, Waks A, Tolaney SM.
    • Drugs. 2022 Oct 7. doi: 10.1007/s40265-022-01781-5. Epub ahead of print.
    • Review
    • Initial outcomes and insights from a novel high-risk prostate cancer screening clinic.
    • Harper JB, Greenberg SE, Hunt TC, Cooney KA, O'Neil BB.
    • Prostate. 2022 Oct 7. doi: 10.1002/pros.24447. Epub ahead of print.
  • LitAlert ~~ GeneLit.com

    • Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): A review and novel case with dual germline SMARCA4 and BRCA2 mutations.
    • Sanders BE, Wolsky R, Doughty ES, Wells KL, Ghosh D, Ku L, Pressey JG, Bitler BB, Brubaker LW.
    • Gynecol Oncol Rep. 2022 Oct 6 [eCollection 2022 Dec];44:101077. doi: 10.1016/j.gore.2022.101077.
    • Outcomes of patients with HER2-negative metastatic breast cancer after platinum- and non-platinum-based first-line chemotherapy among patients with and without pathogenic germline BRCA1/2 mutations.
    • Jacot W, Lusque A, Vicier C, Mailliez A, de La Motte Rouge T, Cabel L, Levy C, Patsouris A, Desmoulins I, Uwer L, Thery JC, Robain M, Caron O, Tredan O, Filleron T, Frenel JS, Delaloge S.
    • Br J Cancer. 2022 Oct 7. doi: 10.1038/s41416-022-02003-1. Epub ahead of print.

    Identifier: NCT03275311: Evolution of the Therapeutic Care in Metastatic Breast Cancer From 2008 (ESME-MBC). (ClinicalTrials.gov . Accessed 2022 Oct 7.)

    • Segregation analysis of 17,425 population-based breast cancer families: Evidence for genetic susceptibility and risk prediction.
    • Li S, MacInnis RJ, Lee A, Nguyen-Dumont T, Dorling L, Carvalho S, Dite GS, Shah M, Luccarini C, Wang Q, Milne RL, Jenkins MA, Giles GG, Dunning AM, Pharoah PDP, Southey MC, Easton DF, Hopper JL, Antoniou AC.
    • Am J Hum Genet. 2022 Oct 6;109(10):1777-1788. doi: 10.1016/j.ajhg.2022.09.006.

    Research news: Breast Cancer Risk Contributors, Remaining Gaps Found With Familial Analyses. (GenomeWeb)

    • Therapy related myeloid neoplasms following PARP inhibitors: real-life experience.
    • Marmouset V, Decroocq J, Garciaz S, Etienne G, Belhabri A, Bertoli S, Gastaud L, Simand C, Chantepie S, Uzunov M, Genthon A, Berthon C, Chiche E, Dumas PY, Vargaftig J, Salmeron G, Lemasle E, Tavernier E, Delage J, Loirat M, Morineau N, Blanc-Durand F, Pautier P, Vergé V, Auger N, Thomas M, Stefani L, Lepelley M, Boyer T, Thepot S, Gourin MP, Bourquard P, Duchmann M, Morice PM, Michallet M, Adès L, Fenaux P, Récher C, Dombret H, Pagès A, Marzac C, Leary A, Micol JB.
    • Clin Cancer Res. 2022 Oct 6:CCR-22-1622. doi: 10.1158/1078-0432.CCR-22-1622. Epub ahead of print.
    • Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
    • Hakkaart C, Pearson JF, Marquart L, Dennis J, Wiggins GAR, Barnes DR, Robinson BA, Mace PD, Aittomäki K, Andrulis IL, Arun BK, Azzollini J, Balmaña J, Barkardottir RB, Belhadj S, Berger L, Blok MJ, Boonen SE, Borde J, Bradbury AR, Brunet J, Buys SS, Caligo MA, Campbell I, Chung WK, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators, Collonge-Rame MA, Cook J, Cosgrove C, Couch FJ, Daly MB, Dandiker S, Davidson R, de la Hoya M, de Putter R, Delnatte C, Dhawan M, Diez O, Ding YC, Domchek SM, Donaldson A, Eason J, Easton DF, Ehrencrona H, Engel C, Evans DG, Faust U, Feliubadaló L, Fostira F, Friedman E, Frone M, Frost D, Garber J, Gayther SA, Gehrig A, Gesta P, Godwin AK, Goldgar DE, Greene MH, Hahnen E, Hake CR, Hamann U, Hansen TVO, Hauke J, Hentschel J, Herold N, Honisch E, Hulick PJ, Imyanitov EN; SWE-BRCA Investigators; kConFab Investigators; HEBON Investigators, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James PA, Janavicius R, John EM, Joseph V, Karlan BY, Kemp Z, Kirk J, Konstantopoulou I, Koudijs M, Kwong A, Laitman Y, Lalloo F, Lasset C, Lautrup C, Lazaro C, Legrand C, Leslie G, Lesueur F, Mai PL, Manoukian S, Mari V, Martens JWM, McGuffog L, Mebirouk N, Meindl A, Miller A, Montagna M, Moserle L, Mouret-Fourme E, Musgrave H, Nambot S, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Nguyen-Dumont T, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Osorio A, Ott CE, Park SK, Parsons MT, Pedersen IS, Peixoto A, Perez-Segura P, Peterlongo P, Pocza T, Radice P, Ramser J, Rantala J, Rodriguez GC, Rønlund K, Rosenberg EH, Rossing M, Schmutzler RK, Shah PD, Sharif S, Sharma P, Side LE, Simard J, Singer CF, Snape K, Steinemann D, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teo SH, Thomassen M, Thull DL, Tischkowitz M, Toland AE, Trainer AH, Tripathi V, Tung N, van Engelen K, van Rensburg EJ, Vega A, Viel A, Walker L, Weitzel JN, Wevers MR, Chenevix-Trench G, Spurdle AB, Antoniou AC, Walker LC.
    • Commun Biol. 2022 Oct 6;5(1):1061. doi: 10.1038/s42003-022-03978-6.
    • Rucaparib Maintenance in Upfront Ovarian Cancer: The Long-Lasting Challenge of Predicting Response to Poly (ADP-ribose) Polymerase Inhibitors.
    • Marchetti C, Fagotti A, Scambia G.
    • J Clin Oncol. 2022 Oct 6:JCO2201585. doi: 10.1200/JCO.22.01585. Epub ahead of print.

    Letter, Reply:

    Reply to C. Marchetti et al.

    Original research:

    A Randomized, Phase III Trial to Evaluate Rucaparib Monotherapy as Maintenance Treatment in Patients With Newly Diagnosed Ovarian Cancer (ATHENA-MONO/GOG-3020/ENGOT-ov45).

    • Optimizing Therapy for Ovarian Cancer: Recent Data Highlights - Episode 1: Recent Updates in PARP Inhibitor Indications for Ovarian Cancer.
    • Monk BJ, Coleman RL, Westin SN, Birrer MJ.
    • OncLive. Peer Exchange. 2022 Oct 6.
    • Optimizing Therapy for Ovarian Cancer: Recent Data Highlights - Episode 2: PARP Inhibitors in Ovarian Cancer: The SOLO-3 Trial.
    • Monk BJ, Coleman RL, Westin SN, Birrer MJ.
    • OncLive. Peer Exchange. 2022 Oct 6.
    • Multiple Bayesian network meta-analyses to establish therapeutic algorithms for metastatic triple negative breast cancer.
    • Schettini F, Venturini S, Giuliano M, Lambertini M, Pinato DJ, Onesti CE, De Placido P, Harbeck N, Lüftner D, Denys H, Van Dam P, Arpino G, Zaman K, Mustacchi G, Gligorov J, Awada A, Campone M, Wildiers H, Gennari A, Tjan-Heijnen V, Bartsch R, Cortes J, Paris I, Martín M, De Placido S, Del Mastro L, Jerusalem G, Curigliano G, Prat A, Generali D.
    • Cancer Treat Rev. 2022 Sep 28;111:102468. doi: 10.1016/j.ctrv.2022.102468. Epub ahead of print.
  • LitAlert ~~ GeneLit.com

    • Six Case Reports of NTHL1-Associated Tumor Syndrome Further Support it as a Multi-Tumor Predisposition Syndrome.
    • Weatherill CB, Burke SA, Haskins CG, Berry DK, Homer JP, Demeure MJ, Darabi S.
    • Clin Genet. 2022 Oct 4. doi: 10.1111/cge.14242. Epub ahead of print.
    • Case report
    • Genodermatoses – Opportunities for Early Detection and Cancer Prevention.
    • Carley H, Kulkarni A.
    • Curr Genet Med Rep. 2022 Oct 4:1-13. doi: 10.1007/s40142-022-00203-y. Epub ahead of print.
    • Rucaparib Meets rPFS End Point in BRCA/ATM-Mutated mCRPC.
    • Ryan C.
    • OncLive. 2022 Oct 3.

    Identifier: NCT02975934: A Study of Rucaparib Versus Physician's Choice of Therapy in Patients With Metastatic Castration-resistant Prostate Cancer and Homologous Recombination Gene Deficiency (TRITON3). (ClinicalTrials.gov . Accessed 2022 Oct 5.)