Category: Phenotype

LitAlert ~~ GeneLit.com

    • Emerging strategies: PARP inhibitors in combination with immune checkpoint blockade in BRCA1 and BRCA2 mutation-associated and triple-negative breast cancer.
    • Tanya Gupta T, Vinayak S, Telli M.
    • Breast Cancer Res Treat. 2022 Nov 1. doi: 10.1007/s10549-022-06780-4. Epub ahead of print.
    • Review

    • Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in a Hereditary Cancer Family.
    • Agaoglu NB, Ng OH, Unal B, Dogan OA, Amanvermez U, Yildiz J, Doganay L, Ghazani A, Rana HQ.
    • Cancer Genet. 2022 Nov 1. doi: 10.1016/j.cancergen.2022.10.144. Epub ahead of print.
    • Case report

    • The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients.
    • Baz M, Gondran-Teiller V, Bressac B, Cabaret O, Fievet A, Dimaria M, Goldbarg V, Colas C, Bonnet-Dupeyron MN, Tinat J, Lebrun M, Mari V, Limacher JM, Corsini C, Ginglinger E, Saurin JC, Brahimi A, Rouzier C, Giraud S, Schuster H, Hollebecque A, Boige V, Cauchin E, Malka D, Caron O, Rouleau E.
    • Dig Dis Sci. 2022 Oct 31. doi: 10.1007/s10620-022-07733-z. Epub ahead of print.

    • Somatic Inactivation of Breast Cancer Predisposition Genes in Tumours Associated with Pathogenic Germline Variants.
    • Lim BWX, Li N, Mahale S, Mcinerny S, Zethoven M, Rowley SM, Huynh J, Wang T, Lee JEA, Friedman M, Devereux L, Scott RJ, Sloan EK, James PA, Campbell IG.
    • J Natl Cancer Inst. 2022 Oct 31:djac196. doi: 10.1093/jnci/djac196. Epub ahead of print.

    • BRCA mutational status shapes the stromal microenvironment of pancreatic cancer linking clusterin expression in cancer associated fibroblasts with HSF1 signaling.
    • Shaashua L, Ben-Shmuel A, Pevsner-Fischer M, Friedman G, Levi-Galibov O, Nandakumar S, Barki D, Nevo R, Brown LE, Zhang W, Stein Y, Lior C, Kim HS, Bojmar L, Jarnagin WR, Lecomte N, Mayer S, Stok R, Bishara H, Hamodi R, Levy-Lahad E, Golan T, Porco JA Jr, Iacobuzio-Donahue CA, Schultz N, Tuveson DA, Lyden D, Kelsen D, Scherz-Shouval R.
    • Nat Commun. 2022 Oct 31;13(1):6513. doi: 10.1038/s41467-022-34081-3.

    • Methylation of promoter region of BRCA1 gene versus pathogenic variants of gene: risk factor or clinical marker of breast cancer.
    • Lobanova O, Medvedieva N, Fishchuk L, Dubitska O, Cheshuk V, Vereshchako R, Zakhartseva L, Rossokha Z, Gorovenko N.
    • Breast Cancer Res Treat. 2022 Oct 25. doi: 10.1007/s10549-022-06774-2. Epub ahead of print.

    • Prognostic Role of DNA Damage Response Genes Mutations and their Association With the Sensitivity of Olaparib in Prostate Cancer Patients.
    • Zhang D, Xu X, Wei Y, Chen X, Li G, Lu Z, Zhang X, Ren X, Wang S, Qin C.
    • Cancer Control. 2022 Jan-Dec [2022 Oct 25];29:10732748221129451. doi: 10.1177/10732748221129451.

    • Metastatic involvement of inguinal lymph nodes as the first sign of endometroid carcinoma of the fallopian tube.
    • Maradová E, Jánošík M, Pilka R, Marek R.
    • Ceska Gynekol. 2022 Fall;87(5):328-332. English. doi: 10.48095/cccg2022328.
    • Case report

    • LitAlert ~~ GeneLit.com

    • Platinum-based chemotherapy in locally advanced or metastatic pancreatic ductal adenocarcinoma (PDAC): summary of evidence and application in clinical practice.
    • Reinacher-Schick A, Arnold D, Venerito M, Goekkurt E, Kraeft AL, Seufferlein T.
    • Oncol Res Treat. 2022 Oct 28. doi: 10.1159/000527692. Epub ahead of print.
    • Review

    • The DNA damage induced immune response: Implications for cancer therapy.
    • Barros EM, McIntosh SA, Savage KI.
    • DNA Repair (Amst). 2022 Oct 3;120:103409. doi: 10.1016/j.dnarep.2022.103409. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Ductal Carcinoma In Situ (DCIS) Diagnosed by MRI-Guided Biopsy among BRCA1/BRCA2 Mutation Carriers.
    • Faermann R, Friedman E, Kaidar-Person O, Weidenfeld J, Brodsky M, Shalmon A, Neiman OH, Gotlieb M, Yagil Y, Samoocha D, Madorsky Feldman D, Sklair-Levy M.
    • Breast J. 2022 Oct 27. doi: 10.1155/2022/4317693. Online ahead of print.

    • Comprehensive Clinical and Genetic Analysis of CHEK2 in Croatian Men with Prostate Cancer.
    • Kirchner K, Gamulin M, Kulis T, Sievers B, Kastelan Z, Lessel D.
    • Genes (Basel). 2022 Oct 27;13(11):1955. doi: 10.3390/genes13111955.

    • Concurrent Olaparib and Radiotherapy in Patients With Triple-Negative Breast Cancer: The Phase 1 Olaparib and Radiation Therapy for Triple-Negative Breast Cancer Trial.
    • Loap P, Loirat D, Berger F, Rodrigues M, Bazire L, Pierga JY, Vincent-Salomon A, Laki F, Boudali L, Raizonville L, Mosseri V, Jochem A, Eeckhoutte A, Diallo M, Stern MH, Fourquet A, Kirova Y.
    • JAMA Oncol. 2022 Oct 27. doi: 10.1001/jamaoncol.2022.5074. Epub ahead of print.

    • Mitomycin C in Homologous Recombination Deficient Metastatic Pancreatic Cancer after Disease Progression on Platinum-Based Chemotherapy and Olaparib.
    • Botrus G, Roe D, Jameson GS, Serrano Uson Junior PL, Korn RL, Caldwell L, Bargenquast T, Miller M, Borazanci EH.
    • Biomedicines. 2022 Oct 26;10(11):2705. doi: 10.3390/biomedicines10112705.

    • The evolving landscape of PARP inhibitors in castration-resistant prostate cancer: a spotlight on treatment combinations.
    • Teply BA, Antonarakis ES.
    • Expert Rev Clin Pharmacol. 2022 Oct 26. doi: 10.1080/17512433.2022.2140656. Epub ahead of print.
    • Review

    • Single-cell genomic variation induced by mutational processes in cancer.
    • Funnell T, O'Flanagan CH, Williams MJ, McPherson A, McKinney S, Kabeer F, Lee H, Salehi S, Vázquez-García I, Shi H, Leventhal E, Masud T, Eirew P, Yap D, Zhang AW, Lim JLP, Wang B, Brimhall J, Biele J, Ting J, Au V, Van Vliet M, Liu YF, Beatty S, Lai D, Pham J, Grewal D, Abrams D, Havasov E, Leung S, Bojilova V, Moore RA, Rusk N, Uhlitz F, Ceglia N, Weiner AC, Zaikova E, Douglas JM, Zamarin D, Weigelt B, Kim SH, Da Cruz Paula A, Reis-Filho JS, Martin SD, Li Y, Xu H, de Algara TR, Lee SR, Llanos VC, Huntsman DG, McAlpine JN; IMAXT Consortium, Shah SP, Aparicio S.
    • Nature. 2022 Oct 26. doi: 10.1038/s41586-022-05249-0. Epub ahead of print.

    • Biomarkers beyond BRCA: promising combinatorial treatment strategies in overcoming resistance to PARP inhibitors.
    • Chu YY, Yam C, Yamaguchi H, Hung MC.
    • J Biomed Sci. 2022 Oct 25;29(1):86. doi: 10.1186/s12929-022-00870-7.

    • LitAlert ~~ GeneLit.com

    • PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients.
    • Giardiello D, Hooning MJ, Hauptmann M, Keeman R, Heemskerk-Gerritsen BAM, Becher H, Blomqvist C, Bojesen SE, Bolla MK, Camp NJ, Czene K, Devilee P, Eccles DM, Fasching PA, Figueroa JD, Flyger H, García-Closas M, Haiman CA, Hamann U, Hopper JL, Jakubowska A, Leeuwen FE, Lindblom A, Lubinski J, Margolin S, Martinez ME, Nevanlinna H, Nevelsteen I, Pelders S, Pharoah PDP, Siesling S, Southey MC, van der Hout AH, van Hest LP, Chang-Claude J, Hall P, Easton DF, Steyerberg EW, Schmidt MK.
    • Breast Cancer Res. 2022 Oct 21;24(1):69. doi: 10.1186/s13058-022-01567-3.

    • APC germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?
    • Vibert R, Le Gall J, Buecher B, Mouret-Fourme E, Bataillon G, Becette V, Trabelsi-Grati O, Moncoutier V, Dehainault C, Carriere J, Schwartz M, Suybeng V, Bieche I, Colas C, Vincent-Salomon A, Stoppa-Lyonnet D, Golmard L.
    • J Med Genet. 2022 Oct 21:jmedgenet-2022-108467. doi: 10.1136/jmg-2022-108467. Epub ahead of print.
    • Case report

    • Mutational landscape of DNA damage response deficiency-related genes and its association with immune biomarkers in esophageal squamous cell carcinoma.
    • Chen G, Zhu YJ, Chen J, Miao F, Wu N, Song Y, Mao BB, Wang SZ, Xu F, Chen ZM.
    • Neoplasma. 2022 Oct 21:220721N738. doi: 10.4149/neo_2022_220721N738. Epub ahead of print.

    • Clinical and molecular characteristics of ARIEL3 patients who derived exceptional benefit from rucaparib maintenance treatment for high-grade ovarian carcinoma.
    • O'Malley DM, Oza AM, Lorusso D, Aghajanian C, Oaknin A, Dean A, Colombo N, Weberpals JI, Clamp AR, Scambia G, Leary A, Holloway RW, Gancedo MA, Fong PC, Goh JC, Swisher EM, Maloney L, Goble S, Lin KK, Kwan T, Ledermann JA, Coleman RL.
    • Gynecol Oncol. 2022 Oct 20:S0090-8258(22)00575-3. doi: 10.1016/j.ygyno.2022.08.021. Epub ahead of print.

    Related:

    Identifier: NCT01968213: A Study of Rucaparib as Switch Maintenance Following Platinum-Based Chemotherapy in Patients With Platinum-Sensitive, High-Grade Serous or Endometrioid Epithelial Ovarian, Primary Peritoneal or Fallopian Tube Cancer (ARIEL3). (ClinicalTrials.gov . Accessed 2022 Oct 22.)

    • LitAlert ~~ GeneLit.com

    • SOLO-1 Data Support Use of Olaparib Maintenance to Achieve Long-Term Remission in BRCA+ Advanced Ovarian Cancer.
    • Flaherty C, DiSilvestro PA.
    • OncLive. 2022 Oct 20.

    Related:

    Identifier: NCT01844986: Olaparib Maintenance Monotherapy in Patients With BRCA Mutated Ovarian Cancer Following First Line Platinum Based Chemotherapy. (SOLO-1). (ClinicalTrials.gov . Accessed 2022 Oct 20.)

    • Optimizing Therapy for Ovarian Cancer: Recent Data Highlights - Episode 5: Niraparib Maintenance Therapy in Ovarian Cancer: The PRIMA Trial.
    • Monk BJ, Coleman RL, Westin SN, Birrer MJ.
    • OncLive. Peer Exchange. 2022 Oct 20.

    • Optimizing Therapy for Ovarian Cancer: Recent Data Highlights - Episode 6: The Rationale for PARP Inhibition plus IO in Ovarian Cancer.
    • Monk BJ, Coleman RL, Westin SN, Birrer MJ.
    • OncLive. Peer Exchange. 2022 Oct 20.

    • LitAlert ~~ GeneLit.com

    • Breast cancer incidence among women with a family history of breast cancer by relative's age at diagnosis.
    • Durham DD, Abraham LA, Roberts MC, Khan CP, Smith RA, Kerlikowske K, Miglioretti DL.
    • Cancer. 2022 Oct 19. doi: 10.1002/cncr.34365. Epub ahead of print.

    Related:

    Commentary:

    What if the age at which a woman started regular mammographic screening depended on her risk, not age?

    • Links between Breast and Thyroid Cancer: Hormones, Genetic Susceptibility and Medical Interventions.
    • Lu M, Liu H, Zheng B, Sun S, Chen C.
    • Cancers (Basel). 2022 Oct 19;14(20):5117. doi: 10.3390/cancers14205117.

    • LitAlert ~~ GeneLit.com

    • IN VIVO ASSIGNMENT OF METHYLMALONIC ACID IN BREAST TISSUE USING 2D MAGNETIC RESONANCE SPECTROSCOPY AND RELATIONSHIP WITH BREAST DENSITY, MENOPAUSAL STATUS AND CANCER RISK.
    • Santamaría G, Naude N, Bennett I, Vosburgh K, Ganau S, Bargalló X, Malycha P, Mountford C.
    • NMR Biomed. 2022 Oct 19:e4851. doi: 10.1002/nbm.4851. Epub ahead of print.

    • Genomic characterization of metastatic castration-resistant prostate cancer patients undergoing PSMA radioligand therapy: A single-center experience.
    • Satapathy S, Das CK, Aggarwal P, Sood A, Parihar AS, Singh SK, Mittal BR.
    • Prostate. 2022 Oct 19. doi: 10.1002/pros.24450. Epub ahead of print.

    • Randomized Trial of Olaparib With or Without Cediranib for Metastatic Castration-Resistant Prostate Cancer: The Results From National Cancer Institute 9984.
    • Kim JW, McKay RR, Radke MR, Zhao S, Taplin ME, Davis NB, Monk P, Appleman LJ, Lara PN Jr, Vaishampayan UN, Zhang J, Paul AK, Bubley G, Van Allen EM, Unlu S, Huang Y, Loda M, Shapiro GI, Glazer PM, LoRusso PM, Ivy SP, Shyr Y, Swisher EM, Petrylak DP.
    • J Clin Oncol. 2022 Oct 18:JCO2102947. doi: 10.1200/JCO.21.02947. Epub ahead of print.

    Related:

    Identifier: NCT02893917: Testing Two Oral Drugs Combination (Cediranib and Olaparib) Compared to a Single Drug (Olaparib) for Men With Advanced Prostate Cancer. (ClinicalTrials.gov . Accessed 2022 Oct 19.)

    • Dr. Karlan on Current Research Evaluating PARP Inhibitor Combination Therapy in Ovarian Cancer.
    • Karlan BY.
    • OncLive. OncLive TV. 2022 Oct 18.

    • LitAlert ~~ GeneLit.com

    • Real-world study of patients with germline BRCA1/2-mutated human epidermal growth factor receptor 2-Negative advanced breast cancer: Patient demographics, treatment patterns, adverse events, and physician-reported satisfaction in the United States, Europe, and Israel.
    • Mahtani R, Niyazov A, Arondekar B, Lewis K, Rider A, Massey L, Lux MP.
    • Breast. 2022 Oct 18:S0960-9776(22)00174-6. doi: 10.1016/j.breast.2022.10.009. Epub ahead of print.

    • Therapeutic effect and safety of individualized chemotherapy combined with sequential immunotherapy based on BRCA1 mRNA expression level in the treatment of unresectable pancreatic cancer.
    • Du J, Zhu L, Sha H, Zou Z, Zhao L, Shen J, Kong W, Qiu Y, Liu B.
    • Front Oncol. 2022 Oct 18;12:1015232. doi: 10.3389/fonc.2022.1015232.

    • The synthetic lethality of targeting cell cycle checkpoints and PARPs in cancer treatment.
    • Li S, Wang L, Wang Y, Zhang C, Hong Z, Han Z.
    • J Hematol Oncol. 2022 Oct 17;15(1):147. doi: 10.1186/s13045-022-01360-x.

    • A phase II study of talazoparib monotherapy in patients with wild-type BRCA1 and BRCA2 with a mutation in other homologous recombination genes.
    • Gruber JJ, Afghahi A, Timms K, DeWees A, Gross W, Aushev VN, Wu HT, Balcioglu M, Sethi H, Scott D, Foran J, McMillan A, Ford JM, Telli ML.
    • Nat Cancer. 2022 Oct 17. doi: 10.1038/s43018-022-00439-1. Epub ahead of print.

    Related:

    Identifier: NCT02401347: Phase II Trial of Talazoparib in BRCA1/2 Wild-type HER2-negative Breast Cancer and Other Solid Tumors. (ClinicalTrials.gov . Accessed 2022 Oct 18.)

    Identifier: NCT04756765: Talazoparib Monotherapy in PALB2 Mutation Associated Advanced Breast Cancer. (ClinicalTrials.gov . Accessed 2022 Oct 18.)

    • Optimizing Therapy for Ovarian Cancer: Recent Data Highlights - Episode 3: PARP Inhibitors as Frontline Maintenance Therapy in Ovarian Cancer.
    • Monk BJ, Coleman RL, Westin SN, Birrer MJ.
    • OncLive. Peer Exchange. 2022 Oct 17.

    • Optimizing Therapy for Ovarian Cancer: Recent Data Highlights - Episode 4: Olaparib Combinations for Frontline Maintenance Therapy in Ovarian Cancer Treatment: The PAOLA-1 Trial.
    • Monk BJ, Coleman RL, Westin SN, Birrer MJ.
    • OncLive. Peer Exchange. 2022 Oct 17.

    • Polygenic Risk Scores Could Refine Breast Cancer Screening Recommendations.
    • Curtin C.
    • Precision Oncology News. 2022 Oct 17.
    • Research news