Author: Steve Kopczak

LitAlert ~~ GeneLit.com

    • Validation of a breast cancer risk prediction model based on the key risk factors: family history, mammographic density and polygenic risk.
    • Allman R, Mu Y, Dite GS, Spaeth E, Hopper JL, Rosner BA.
    • Breast Cancer Res Treat. 2023 Feb 7. doi: 10.1007/s10549-022-06834-7. Epub ahead of print.

    • The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.
    • Chevarin M, Alcantara D, Albuisson J, Collonge-Rame MA, Populaire C, Selmani Z, Baurand A, Sawka C, Bertolone G, Callier P, Duffourd Y, Jonveaux P, Bignon YJ, Coupier I, Cornelis F, Cordier C, Mozelle-Nivoix M, Rivière JB, Kuentz P, Thauvin C, Boidot R, Ghiringhelli F, O'Driscoll M, Faivre L, Nambot S.
    • Oncotarget. 2023 Feb 7;14:111-125. doi: 10.18632/oncotarget.28358.

    • Genetic analyses of DNA repair pathway associated genes implicates new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases.
    • Alenezi WM, Fierheller CT, Serruya C, Revil T, Oros Klein K, Subramanian DN, Bruce J, Spiegelman D, Pugh T, Campbell I, Mes-Masson AM, Provencher D, Foulkes W, El Haffaf Z, Rouleau G, Bouchard L, Greenwood CM, Ragoussis J, Tonin PN.
    • Front Oncol. 2023 Feb 6;13:1111191. doi: 10.3389/fonc.2023.1111191.

    • Comprehensive Analysis of Germline Drivers in Endometrial Cancer.
    • Gordhandas S, Rios-Doria E, Cadoo KA, Catchings A, Maio A, Kemel Y, Sheehan M, Ranganathan M, Green D, Aryamvally A, Arnold AG, Salo-Mullen E, Manning-Geist B, Sia T, Selenica P, Da Cruz Paula A, Vanderbilt C, Misyura M, Leitao MM, Mueller JJ, Makker V, Rubinstein M, Friedman CF, Zhou Q, Iasonos A, Latham A, Carlo MI, Murciano-Goroff YR, Will M, Walsh MF, Issa Bhaloo S, Ellenson LH, Ceyhan-Birsoy O, Berger MF, Robson ME, Abu-Rustum N, Aghajanian C, Offit K, Stadler Z, Weigelt B, Mandelker DL, Liu YL.
    • J Natl Cancer Inst. 2023 Feb 6:djad016. doi: 10.1093/jnci/djad016. Epub ahead of print.

    • Hereditary Diffuse Gastric Cancer.
    • Decourtye-Espiard L, Guilford P.
    • Gastroenterology. 2023 Feb 3:S0016-5085(23)00110-5. doi: 10.1053/j.gastro.2023.01.038. Epub ahead of print.
    • Review

    • Homologous Recombination Deficiency in Ovarian Cancer: From the Biological Rationale to Current Diagnostic Approaches.
    • Mangogna A, Munari G, Pepe F, Maffii E, Giampaolino P, Ricci G, Fassan M, Malapelle U, Biffi S.>
    • J Pers Med. 2023 Feb 2;13(2):284. doi: 10.3390/jpm13020284.

    • Germline TP53 pathogenic variants and breast cancer: A narrative review.
    • Blondeaux E, Arecco L, Punie K, Graffeo R, Toss A, De Angelis C, Trevisan L, Buzzatti G, Linn SC, Dubsky P, Cruellas M, Partridge AH, Balmaña J, Paluch-Shimon S, Lambertini M.
    • Cancer Treat Rev. 2023 Jan 31;114:102522. doi: 10.1016/j.ctrv.2023.102522. Epub ahead of print.

    • A chance in hopeless cancer: 5-year complete remission after oxaliplatin-based therapy in a patient with BRCA2 mutant metastatic pancreatic cancer.
    • Yildirim HC, Ismayilov R, Akyildiz A, Guven DC, Abdurrahimli N, Dizdar O, Yalcin S.
    • Anticancer Drugs. 2022 Dec 19. doi: 10.1097/CAD.0000000000001486. Epub ahead of print.
    • Case report

    • LitAlert ~~ GeneLit.com

    • Validation of a breast cancer risk prediction model based on the key risk factors: family history, mammographic density and polygenic risk.
    • Allman R, Mu Y, Dite GS, Spaeth E, Hopper JL, Rosner BA.
    • Breast Cancer Res Treat. 2023 Feb 7. doi: 10.1007/s10549-022-06834-7. Epub ahead of print.

    • Beyond BRCA: Patterns of risk-reducing surgery for non-BRCA, homologous recombination repair pathway gene variant carriers.
    • Lee SS, Karpel HC, Oh C, Smith J, Pothuri B.
    • Gynecol Oncol. 2023 Jan 30;170:234-240. doi: 10.1016/j.ygyno.2022.12.012. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Homologous repair deficiency-associated genes in invasive breast cancer revealed by WGCNA co-expression network analysis and genetic perturbation similarity analysis.
    • Chen H, Liu Y, Yin Z, Chen H, Wang Y, Qian Y.
    • Cell Cycle. 2023 Feb 9:1-24. doi: 10.1080/15384101.2023.2174339. Epub ahead of print.

    • Synergistic effect of PARP inhibitor and BRD4 inhibitor in multiple models of ovarian cancer.
    • Huang Y, Liu C, You L, Li X, Chen G, Fan J.
    • J Cell Mol Med. 2023 Feb 8. doi: 10.1111/jcmm.17683. Epub ahead of print.

    • Dr. Choudhury on the Potential Benefit of PARP Inhibitor Use in mCRPC.
    • Choudhury AD.
    • OncLive. OncLive TV. 2023 Feb 8.

    • Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.
    • Rao ND, Shirts BH.
    • PLoS One. 2023 Feb 8;18(2):e0278010. doi: 10.1371/journal.pone.0278010.

    • Olaparib in Patients With Metastatic Prostate Cancer With BRCA1/2 Mutation: Results From the TAPUR Study.
    • Yang ES, Halabi S, Rothe M, Garrett-Mayer E, Mangat PK, Pisick E, Dib E, Burgess EF, Zakem M, Rohatgi N, Bilen MA, O'Lone R, Grantham GN, Schilsky RL.
    • JCO Precis Oncol. 2023 Feb;7:e2200505. doi: 10.1200/PO.22.00505.

    Related:

    •• Identifier: NCT02693535: TAPUR: Testing the Use of Food and Drug Administration (FDA) Approved Drugs That Target a Specific Abnormality in a Tumor Gene in People With Advanced Stage Cancer (TAPUR). (ClinicalTrials.gov . Accessed 2023 Feb 8.)

    • BRCA1/2 pathogenic variants are not common in Merkel cell carcinoma: Comprehensive molecular study of 30 cases and meta-analysis of the literature.
    • Gaubert A, Kervarrec T, Montaudié H, Burel-Vandenbos F, Cardot-Leccia N, Di Mauro I, Fabas T, Tallet A, Kubiniek V, Pedeutour F, Dadone-Montaudié B.
    • J Invest Dermatol. 2023 Feb 6:S0022-202X(23)00068-4. doi: 10.1016/j.jid.2023.01.014. Epub ahead of print.

    • Current status and future promise of next-generation poly (ADP-Ribose) polymerase 1-selective inhibitor AZD5305.
    • Zheng J, Li Z, Min W.
    • Front Pharmacol. 2023 Jan 23;13:979873. doi: 10.3389/fphar.2022.979873.

    • Case Report: Clinical benefit from multi-target tyrosine kinase inhibitor and PARP inhibitor in a patient with cancer of unknown primary with BRCA1 large genomic rearrangement.
    • Yu L, Lin J, Li H, Sun L, Wang S, Chen Y, Chen H, Lin L.
    • Front Pharmacol. 2023 Jan 23;14:997760. doi: 10.3389/fphar.2023.997760.

    • LitAlert ~~ GeneLit.com

    • Uptake and Effectiveness of Risk-Reducing Surgeries in Unaffected Female BRCA1 and BRCA2 Carriers: A Single Institution Experience in the Czech Republic.
    • Zimovjanova M, Bielcikova Z, Miskovicova M, Vocka M, Zimovjanova A, Marian Rybar M, Novotny J, Petruzelka L.
    • Cancers (Basel). 2023 Feb 8;15(4):1072. doi: 10.3390/cancers15041072.

    • Combining Breast Cancer Risk Prediction Models.
    • Guan Z, Huang T, McCarthy AM, Hughes K, Semine A, Uno H, Trippa L, Parmigiani G, Braun D.
    • Cancers (Basel). 2023 Feb 8;15(4):1072. doi: 10.3390/cancers15041090.

    • Hereditary Cancer Syndrome in a Family with Double Mutation in BRIP1 and MUTYH Genes.
    • D’Elia G, Caliendo G, Passariello L, Albanese L, Makker J, Molinari AM, Vietri MT.
    • Genes (Basel). 2023 Feb 8;14(2):428. doi: 10.3390/genes14020428.

    • Role of psychological background in cancer susceptibility genetic testing distress: It is not only about a positive result.
    • López-Fernández A, Villacampa G, Salinas M, Grau E, Darder E, Carrasco E, Solanes A, Velasco A, Torres M, Munté E, Iglesias S, Torres-Esquius S, Tuset N, Diez O, Lázaro C, Brunet J, Corbella S, Balmaña J.
    • J Genet Couns. 2023 Feb 7. doi: 10.1002/jgc4.1687. Epub ahead of print.

    • Ki67 as a Predictor of Response to PARP Inhibitors in Platinum Sensitive BRCA Wild Type Ovarian Cancer: The MITO 37 Retrospective Study.
    • Tuninetti V, Ghisoni E, Pignata S, Picardo E, Raspagliesi F, Andreetta C, Maldi E, Artioli G, Mammoliti S, Zanchi L, Sikokis A, Biglia N, Parisi A, Mandato VD, Carella C, Cormio G, Marinaccio M, Puppo A, Paolini B, Borsotti L, Scotto G, Turinetto M, Sangiolo D, Di Maio M, Valabrega G.
    • Cancers (Basel). 2023 Feb 6;15(4):1032. doi: 10.3390/cancers15041032.

    • Clinical and laboratory genetic counselor attitudes on the reporting of variants of uncertain significance for multigene cancer panels.
    • Chang EY, Solomon I, Culver JO, Gorman N, Comeaux JG, Lerman C, Quinn EA, Ekstein T.
    • J Genet Couns. 2023 Feb 6. doi: 10.1002/jgc4.1680. Epub ahead of print.

    • Clinical and laboratory genetic counselor attitudes on the reporting of variants of uncertain significance for multigene cancer panels.
    • Chang EY, Solomon I, Culver JO, Gorman N, Comeaux JG, Lerman C, Quinn EA, Ekstein T.
    • J Genet Couns. 2023 Feb 6. doi: 10.1002/jgc4.1680. Epub ahead of print.

    • Measuring high-risk parents' opinions about direct-to-consumer genetic testing for adult-onset inherited cancer syndromes in their adolescent and young adult children.
    • Hasser E, Peshkin BN, Hamilton JG, Brower J, Ovadia H, Friedman Ross L, Sacca R, Tarini B, Domchek SM, Vittone S, Sleiman M Jr, Isaacs C, Knerr S, Wilfond BS, Tercyak KP.
    • J Genet Couns. 2023 Feb 7. doi: 10.1002/jgc4.1685. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Ki67 as a Predictor of Response to PARP Inhibitors in Platinum Sensitive BRCA Wild Type Ovarian Cancer: The MITO 37 Retrospective Study.
    • Tuninetti V, Ghisoni E, Pignata S, Picardo E, Raspagliesi F, Andreetta C, Maldi E, Artioli G, Mammoliti S, Zanchi L, Sikokis A, Biglia N, Parisi A, Mandato VD, Carella C, Cormio G, Marinaccio M, Puppo A, Paolini B, Borsotti L, Scotto G, Turinetto M, Sangiolo D, Di Maio M, Valabrega G.
    • Cancers (Basel). 2023 Feb 6;15(4):1032. doi: 10.3390/cancers15041032.

    • Homologous Recombination Inquiry Through Ovarian Malignancy Investigations: JGOG3025 study.
    • Yoshihara K, Baba T, Tokunaga H, Nishino K, Sekine M, Takamatsu S, Matsumura N, Yoshida H, Kajiyama H, Shimada M, Kagimura T, Oda K, Sasajima Y, Yaegashi N, Okamoto A, Sugiyama T, Enomoto T.
    • Cancer Sci. 2023 Feb 6. doi: 10.1111/cas.15747. Epub ahead of print.

    Related:

    •• Identifier: NCT03159572: Homologous Recombination Inquiry Through Ovarian Malignancy Investigations (HITOMI). (ClinicalTrials.gov . Accessed 2023 Feb 7.)

    • Genetic testing and prognosis of sarcomatoid hepatocellular carcinoma patients.
    • Jia B, Xia P, Dong J, Feng W, Wang W, Liu E, Jiang G, Qin Y.
    • Front Oncol. 2023 Jan 17;12:1086908. doi: 10.3389/fonc.2022.1086908.