Author: Steve Kopczak

LitAlert ~~ GeneLit.com

    • Pathogenic variants among females with breast cancer and a non-breast cancer reveal opportunities for cancer interception.
    • Bychkovsky BL, Lo MT, Yussuf A, Horton C, Hemyari P, LaDuca H, Garber JE, Scheib R, Rana HQ.
    • Breast Cancer Res Treat. 2023 Mar 1. doi: 10.1007/s10549-023-06870-x. Epub ahead of print.

    • Does genetic testing offer utility as a supplement to traditional family health history intake for inherited disease risk?
    • May T, Smith CL, Kelley W, East K, Orlando L, Cochran M, Colletto S, Moss I, Nakano-Okuno M, Korf B, Limdi N.
    • Fam Pract. 2023 Feb 28:cmad017. doi: 10.1093/fampra/cmad017. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Homologous Recombination Defects and Mutations in DNA Damage Response (DDR) Genes Besides BRCA1 and BRCA2 as Breast Cancer Biomarkers for PARP Inhibitors and Other DDR Targeting Therapies.
    • Voutsadakis IA, Stravodimou A.
    • Anticancer Res. 2023 Mar;43(3):967-981. doi: 10.21873/anticanres.16241.

    • A phase 1 study of veliparib (ABT-888) plus weekly carboplatin and paclitaxel in advanced solid malignancies, with an expansion cohort in triple negative breast cancer (TNBC) (ETCTN 8620).
    • Malhotra MK, Pahuja S, Kiesel BF, Appleman LJ, Ding F, Lin Y, Tawbi HA, Stoller RG, Lee JJ, Belani CP, Chen AP, Giranda VL, Shepherd SP, Emens LA, Ivy SP, Chu E, Beumer JH, Puhalla S.
    • Breast Cancer Res Treat. 2023 Feb 28. doi: 10.1007/s10549-023-06889-0. Epub ahead of print.

    Related:

    •• Identifier: NCT01281150: Veliparib in Combination With Carboplatin and Paclitaxel in Treating Patients With Locally Advanced or Metastatic Solid Tumors. (ClinicalTrials.gov . Accessed 2023 Feb 28.)

    • Characterization of BRCA Deficiency in Ovarian Cancer.
    • Barbero G, Zuntini R, Magini P, Desiderio L, Bonaguro M, Perrone AM, Rubino D, Grippa M, De Leo A, Ceccarelli C, Godino L, Miccoli S, Ferrari S, Santini D, De Iaco P, Zamagni C, Innella G, Turchetti D.
    • Cancers (Basel). 2023 Feb 28;15(5):1530. doi: 10.3390/cancers15051530.

    • Somatic and Germline Aberrations in Homologous Recombination Repair Genes in Chinese Prostate Cancer Patients.
    • Liu YX, Jin B, Shen C, Gao XS, Qi X, Ma M, Li HZ, Hao H, Tang Q, Yang K, Mi Y, Guan J, He Z, Haixia L, Yu W.
    • Front Oncol. 2023 Feb 28;13:1086517. doi: 10.3389/fonc.2023.1086517.

    • A Review of Treatments Targeting DNA-Repair Gene Defects in Metastatic Castration Resistant Prostate Cancer.
    • Maslov DV, Sember Q, Cham J, Bhangoo M.
    • Front Oncol. 2023 Feb 28;13:1150777. doi: 10.3389/fonc.2023.1150777.

    • Comprehensive genomic profiling of upper tract urothelial carcinoma and urothelial carcinoma of the bladder identifies distinct molecular characterizations with potential implications for targeted therapy & immunotherapy.
    • Tang Q, Zuo W, Wan C, Xiong S, Xu C, Yuan C, Sun Q, Zhou L, Li X.
    • Front Immunol. 2023 Feb 3;13:1097730. doi: 10.3389/fimmu.2022.1097730.

    • LitAlert ~~ GeneLit.com

    • Impact of lower co-payments on risk-reducing salpingo-oophorectomy and BRCA testing in Japan.
    • Konnai K, Fujiwara H, Kitagawa M, Wakabayashi R, Yumori A, Notomi T, Onose R, Kato H, Narimatsu H.
    • Arch Public Health. 2023 Feb 27;81(1):32. doi: 10.1186/s13690-023-01048-9.

    • A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: a case report.
    • Colombo M, Mondini P, Minenza E, Foglia C, Mosconi A, Molica C, Pistola L, Ludovini V, Radice P.
    • Front Oncol. 2023 Feb 27;13:1102184. doi: 10.3389/fonc.2023.1102184.

    • Is Breast Conserving Surgery Efficacious in Breast Cancer Patients with BRCA1 or BRCA2 Germline Mutation?
    • Emiroglu S, Özkurt E, Cabioglu N, Igci A, Saip P, Yazici H, Ozmen T, Ozmen V, Muslumanoglu M, Tukenmez M.
    • Breast Cancer (Dove Med Press). 2023 Feb 21;15:163-173. doi: 10.2147/BCTT.S395054.

    • A Highly Conserved Region in BRCA2 Suppresses the RAD51-Interaction Activity of BRC Repeats.
    • Zhu Z, Kitano T, Morimatsu M, Ochiai K, Ishiguro-Oonuma T, Oosumi K, Lin X, Orino K, Yoshikawa Y.
    • Vet Sci. 2023 Feb 10;10(2):145. doi: 10.3390/vetsci10020145.

    • Prevalence of Pathogenic Germline Mutations in 13 Hereditary Cancer-Related Genes in Breast Cancer Patients in Narathiwat Province, Thailand.
    • Sukpan P, Kanokwiroon K, Sriplung H, Laochareonsuk W, Choochuen P, Auseng N, Wanawanakorn K, Sangkhathat S.
    • Asian Pac J Cancer Prev. 2023 Feb 1;24(2):525-530. doi: 10.31557/APJCP.2023.24.2.525.

    • LitAlert ~~ GeneLit.com

    • A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: a case report.
    • Colombo M, Mondini P, Minenza E, Foglia C, Mosconi A, Molica C, Pistola L, Ludovini V, Radice P.
    • Front Oncol. 2023 Feb 27;13:1102184. doi: 10.3389/fonc.2023.1102184.

    • LitAlert ~~ GeneLit.com

    • A Swedish Familial Genome-Wide Haplotype Analysis Identified Five Novel Breast Cancer Susceptibility Loci on 9p24.3, 11q22.3, 15q11.2, 16q24.1 and Xq21.31.
    • Barnekow E, Hasslow J, Liu W, Bryant P, Thutkawkorapin J, Wendt C, Czene K, Hall P, Margolin S, Lindblom A.
    • Int J Mol Sci. 2023 Feb 24;24(5):4468. doi: 10.3390/ijms24054468.

    • Association of Frequent Aspirin Use With Ovarian Cancer Risk According to Genetic Susceptibility.
    • Hurwitz LM, Webb PM, Jordan SJ, Doherty JA, Harris HR, Goodman MT, Shvetsov YB, Modugno F, Moysich KB, Schildkraut JM, Berchuck A, Anton-Culver H, Ziogas A, Menon U, Ramus SJ, Wu AH, Pearce CL, Wentzensen N, Tworoger SS, Pharoah PDP, Trabert B.
    • JAMA Netw Open. 2023 Feb 1 [Feb 24];6(2):e230666. doi: 10.1001/jamanetworkopen.2023.0666.

    • Aberrations of DNA Repair Pathways in Prostate Cancer—The State of the Art.
    • Boussios S, Sheriff M.
    • Int J Mol Sci. 2023 Feb 21;24(5):4301. doi: 10.3390/ijms24054301.

    • Combination Regimens May Expand PARP Inhibitor Efficacy in mCRPC.
    • Wahner A, Zhang T.
    • OncLive. 2023 Feb 21.

    • Efficacy of PARP Inhibitor, Platinum, and Immunotherapy in BRCA-Mutated HER2-Negative Breast Cancer Patients: A Systematic Review and Network Meta-Analysis.
    • Sun W, Wu Y, Ma F, Fan J, Qiao Y.
    • J Clin Med. 2023 Feb 17;12(4):1588. doi: 10.3390/jcm12041588.

    • The impact of coding germline variants on contralateral breast cancer risk and survival.
    • Morra A, Mavaddat N, Muranen TA, Ahearn TU, Allen J, Andrulis IL, Auvinen P, Becher H, Behrens S, Blomqvist C, Bojesen SE, Bolla MK, Brauch H, Camp NJ, Carvalho S, Castelao JE, Cessna MH, Chang-Claude J, Chenevix-Trench G; NBCS Collaborators; Czene K, Decker B, Dennis J, Dörk T, Dorling L, Dunning AM, Ekici AB, Eriksson M, Evans DG, Fasching PA, Figueroa JD, Flyger H, Gago-Dominguez M, García-Closas M, Geurts-Giele WRR, Giles GG, Guénel P, Gündert M, Hahnen E, Hall P, Hamann U, Harrington PA, He W, Heikkilä P, Hooning MJ, Hoppe R, Howell A, Humphreys K; kConFab Investigators; Jakubowska A, Jung AY, Keeman R, Kristensen VN, Lubinski J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Mavroudis D, Milne RL, Mulligan AM, Newman WG, Park-Simon TW, Peterlongo P, Pharoah PDP, Rhenius V, Saloustros E, Sawyer EJ, Schmutzler RK, Shah M, Spurdle AB, Tomlinson I, Truong T, van Veen EM, Vreeswijk MPG, Wang Q, Wendt C, Yang XR, Nevanlinna H, Devilee P, Easton DF, Schmidt MK.
    • Am J Hum Genet. 2023 Feb 16:S0002-9297(23)00047-2. doi: 10.1016/j.ajhg.2023.02.003. Epub ahead of print.

    Related:

    •• Research news: Coding Variants in Five Breast Cancer Risk Genes Linked to Contralateral Breast Cancer. (GenomeWeb)

    • Chinese American and Non-Hispanic White Breast Cancer Patients' Knowledge and Use of BRCA Testing.
    • Wang H, Chen LS, Hsiao HY, Hsiao SC, Han T, Chang E, Assoumou B, Wang JH.
    • Int J Environ Res Public Health. 2023 Feb 15;20(4):3384. doi: 10.3390/ijerph20043384.

    • Risk-Reducing Breast and Gynecological Surgery for BRCA Mutation Carriers: A Narrative Review.
    • Bertozzi S, Londero AP, Xholli A, Azioni G, Di Vora R, Paudice M, Bucimazza I, Cedolini C, Cagnacci A.
    • J Clin Med. 2023 Feb 10;12(4):1422. doi: 10.3390/jcm12041422.

    • Hereditary Women's Cancer: Management and Risk-Reducing Surgery.
    • Conte C, Pelligra S, Sarpietro G, Montana GD, Della Corte L, Bifulco G, Martinelli C, Ercoli A, Palumbo M, Cianci S.
    • Medicina (Kaunas). 2023 Feb 6;59(2):300. doi: 10.3390/medicina59020300.

    • LitAlert ~~ GeneLit.com

    • Pakistani healthcare professionals' perceptions of communication with patients and their relatives about hereditary breast cancer: a qualitative study in a LMIC.
    • Ahmed S, Jafri H, Ahmed WN, Khanam A, Rashid Y, Ahmed M.
    • J Community Genet. 2023 Feb 23. doi: 10.1007/s12687-023-00639-x. Epub ahead of print.

    • Gonadotropin-dependent precocious puberty in a female offspring who is a potential carrier for BRCA2 pathogenic variant: An additional consideration for gonadotropin-releasing hormone agonist treatment.
    • Tsuura K, Sato T, Nakano S, Ishii T, Hasegawa T.
    • Pediatr Blood Cancer. 2023 Feb 23:e30265. doi: 10.1002/pbc.30265. Epub ahead of print.
    • Letter

    • Lynch Syndrome and Gynecologic Tumors: Incidence, Prophylaxis, and Management of Patients with Cancer.
    • Capasso I, Santoro A, Cordisco EL, Perrone E, Tronconi F, Catena U, Zannoni GF, Scambia G, Fanfani F, Lorusso D, Duranti S.
    • Cancers (Basel). 2023 Feb 22;15(5):1400. doi: 10.3390/cancers15051400.

    • A systematic review and meta-analysis of germline BRCA mutations in pancreatic cancer patients identifies global and racial disparities in access to genetic testing.
    • Paiella S, Azzolina D, Gregori D, Malleo G, Golan T, Simeone DM, Davis MB, Vacca PG, Crovetto A, Bassi C, Salvia R, Biankin AV, Casolino R.
    • ESMO Open. 2023 Feb 21;8(2):100881. doi: 10.1016/j.esmoop.2023.100881. Epub ahead of print.

    • XRCC8 mutation causes hypersensitivity to PARP inhibition without Homologous recombination repair deficiency.
    • Maeda J, Haskins JS, Kato TA.
    • Mutat Res. 2023 Feb 13;826:111815. doi: 10.1016/j.mrfmmm.2023.111815. Epub ahead of print.

    • Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival.
    • Morra A, Schreurs MAC, Andrulis IL, Anton-Culver H, Augustinsson A, Beckmann MW, Behrens S, Bojesen SE, Bolla MK, Brauch H, Broeks A, Buys SS, Camp NJ, Castelao JE, Cessna MH, Chang-Claude J, Chung WK, Collaborators N, Colonna SV, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Dennis J, Devilee P, Dörk T, Dunning AM, Dwek M, Easton DF, Eccles DM, Eriksson M, Evans DG, Fasching PA, Fehm TN, Figueroa JD, Flyger H, Gabrielson M, Gago-Dominguez M, García-Closas M, García-Sáenz JA, Genkinger J, Grassmann F, Gündert M, Hahnen E, Haiman CA, Hamann U, Harrington PA, Hartikainen JM, Hoppe R, Hopper JL, Houlston RS, Howell A, Investigators A, Investigators K, Jakubowska A, Janni W, Jernström H, John EM, Johnson N, Jones ME, Kristensen VN, Kurian AW, Lambrechts D, Marchand LL, Lindblom A, Lubinski J, Lux MP, Mannermaa A, Mavroudis D, Mulligan AM, Muranen TA, Nevanlinna H, Nevelsteen I, Neven P, Newman WG, Obi N, Offit K, Olshan AF, Park-Simon TW, Patel AV, Peterlongo P, Phillips KA, Plaseska-Karanfilska D, Polley EC, Presneau N, Pylkäs K, Rack B, Radice P, Rashid MU, Rhenius V, Robson M, Romero A, Saloustros E, Sawyer EJ, Schmutzler RK, Schuetze S, Scott C, Shah M, Smichkoska S, Southey MC, Tapper WJ, Teras LR, Tollenaar RAEM, Tomczyk K, Tomlinson I, Troester MA, Vachon CM, van Veen EM, Wang Q, Wendt C, Wildiers H, Winqvist R, Ziogas A, Hall P, Pharoah PDP, Adank MA, Hollestelle A, Schmidt MK, Hooning MJ.
    • Res Sq [Preprint]. 2023 Feb 13:rs.3.rs-2569372. doi: 10.21203/rs.3.rs-2569372/v1.

    • Critical gaps in knowledge and implementation of recommendations by the US Preventive Services Task Force.
    • Kelly K, Parente DJ.
    • Prev Med Rep. 2023 Jan 28;32:102120. doi: 10.1016/j.pmedr.2023.102120.

    • Cervical Gastric-type Adenosquamous Carcinoma: Case Report of a Rare Neoplasm Associated With a BRCA1 Pathogenic Variant.
    • Rajendran S, McGivern U, Gonzalez D, McCluggage WG.
    • Int J Gynecol Pathol. 2023 Jan 25. doi: 10.1097/PGP.0000000000000946. Epub ahead of print.
    • Case report

    • LitAlert ~~ GeneLit.com

    • Pakistani healthcare professionals' perceptions of communication with patients and their relatives about hereditary breast cancer: a qualitative study in a LMIC.
    • Ahmed S, Jafri H, Ahmed WN, Khanam A, Rashid Y, Ahmed M.
    • J Community Genet. 2023 Feb 23. doi: 10.1007/s12687-023-00639-x. Epub ahead of print.

    • Gonadotropin-dependent precocious puberty in a female offspring who is a potential carrier for BRCA2 pathogenic variant: An additional consideration for gonadotropin-releasing hormone agonist treatment.
    • Tsuura K, Sato T, Nakano S, Ishii T, Hasegawa T.
    • Pediatr Blood Cancer. 2023 Feb 23:e30265. doi: 10.1002/pbc.30265. Epub ahead of print.
    • Letter

    • Lynch Syndrome and Gynecologic Tumors: Incidence, Prophylaxis, and Management of Patients with Cancer.
    • Capasso I, Santoro A, Cordisco EL, Perrone E, Tronconi F, Catena U, Zannoni GF, Scambia G, Fanfani F, Lorusso D, Duranti S.
    • Cancers (Basel). 2023 Feb 22;15(5):1400. doi: 10.3390/cancers15051400.

    • XRCC8 mutation causes hypersensitivity to PARP inhibition without Homologous recombination repair deficiency.
    • Maeda J, Haskins JS, Kato TA.
    • Mutat Res. 2023 Feb 13;826:111815. doi: 10.1016/j.mrfmmm.2023.111815. Epub ahead of print.

    • Critical gaps in knowledge and implementation of recommendations by the US Preventive Services Task Force.
    • Kelly K, Parente DJ.
    • Prev Med Rep. 2023 Jan 28;32:102120. doi: 10.1016/j.pmedr.2023.102120.

    • Cervical Gastric-type Adenosquamous Carcinoma: Case Report of a Rare Neoplasm Associated With a BRCA1 Pathogenic Variant.
    • Rajendran S, McGivern U, Gonzalez D, McCluggage WG.
    • Int J Gynecol Pathol. 2023 Jan 25. doi: 10.1097/PGP.0000000000000946. Epub ahead of print.
    • Case report

    • LitAlert ~~ GeneLit.com

    • Patient-centered outcomes in the POLO study of active maintenance olaparib for germline BRCA-mutated metastatic pancreatic cancer.
    • Kindler HL, Yoo HK, Hettle R, Cui KY, Joo S, Locker GY, Golan T.
    • Cancer. 2023 Feb 22. doi: 10.1002/cncr.34610. Epub ahead of print.

    • PARP Inhibitors Will "Remain Relevant" for mCRPC.
    • [No author given]
    • Cancer Discov. 2023 Feb 22:OF1. doi: 10.1158/2159-8290.CD-NB2023-0013. Epub ahead of print.
    • Research news

    • Obesity promotes breast epithelium DNA damage in women carrying a germline mutation in BRCA1 or BRCA2.
    • Bhardwaj P, Iyengar NM, Zahid H, Carter KM, Byun DJ, Choi MH, Sun Q, Savenkov O, Louka C, Liu C, Piloco P, Acosta M, Bareja R, Elemento O, Foronda M, Dow LE, Oshchepkova S, Giri DD, Pollak M, Zhou XK, Hopkins BD, Laughney AM, Frey MK, Ellenson LH, Morrow M, Spector JA, Cantley LC, Brown KA.
    • Sci Transl Med. 2023 Feb 22;15(684):eade1857. doi: 10.1126/scitranslmed.ade1857. Epub 2023 Feb 22.

    • Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility.
    • Kawamura M, Shirota H, Niihori T, Komine K, Takahashi M, Takahashi S, Miyauchi E, Niizuma H, Kikuchi A, Tada H, Shimada M, Kawamorita N, Kanamori M, Sugiyama I, Tsubata M, Ichikawa H, Yasuda J, Furukawa T, Aoki Y, Ishioka C.
    • J Hum Genet. 2023 Feb 20. doi: 10.1038/s10038-023-01133-5. Epub ahead of print.

    • Venadaparib Is a Novel and Selective PARP Inhibitor with Improved Physicochemical Properties, Efficacy, and Safety.
    • Lee M, Je IG, Kim JE, Yoo Y, Lim JH, Jang E, Lee Y, Song DK, Moon AN, Kim JA, Jeong J, Park JT, Lee JW, Yang JH, Hong CH, Park SY, Park YW, Baek NS, Lee S, Ha KS, Choi S, Lee WS.
    • Mol Cancer Ther. 2023 Feb 20:OF1-OF10. doi: 10.1158/1535-7163.MCT-22-0068. Epub ahead of print.

    • Psychosocial factors impacting barriers and motivators to cancer genetic testing.
    • Hanson EN, Delacroix E, Austin S, Carr G, Kidwell KM, Bacon E, Gerido LH, Griggs JJ, Stoffel EM, Resnicow K.
    • Cancer Med. 2023 Feb 19. doi: 10.1002/cam4.5709. Epub ahead of print.

    • Older age should not be a barrier to testing for somatic variants in homologous recombination DNA repair-related genes in patients with high-grade serous ovarian carcinoma.
    • Pitiyarachchi O, Lee YC, Sim HW, Srirangan S, Mapagu C, Kirk J, Harnett PR, Balleine RL, Bowtell DDL, Samimi G, Brand AH, Marsh DJ, Beale P, Anderson L, Bouantoun N, Provan P; INOVATe Investigators; Ramus SJ, DeFazio A, Friedlander M.

    • A case of unresectable intrahepatic cholangiocarcinoma with a germline BRCA1 mutation.
    • Yamashita Y, Ishii Y, Serikawa M, Okamoto W, Tsuboi T, Tatsukawa Y, Nakamura S, Hirano T, Ikemoto J, Oka S.
    • Clin J Gastroenterol. 2023 Feb 17. doi: 10.1007/s12328-023-01772-3. Epub ahead of print.
    • Case report

    • Mathematical modeling of the early modeled CA-125 longitudinal kinetics (KELIM-PARP) as a pragmatic indicator of rucaparib efficacy in patients with recurrent ovarian carcinoma in ARIEL2 & STUDY 10.
    • Colomban O, Swisher EM, Kristeleit R, McNeish I, Shapira-Frommer R, Goble S, Lin KK, Maloney L, Freyer G, You B.
    • EBioMedicine. 2023 Feb 16;89:104477. doi: 10.1016/j.ebiom.2023.104477. Epub ahead of print.

    • Clinicopathological and imaging features of ductal carcinoma in situ in BRCA1/2 mutation carriers.
    • Seki A, Tsunoda H, Takei J, Suzuki M, Kanomata N, Yamauchi H.
    • Breast Dis. 2023;42(1):5-15. doi: 10.3233/BD-220006.

    • LitAlert ~~ GeneLit.com

    • High-Grade Serous Carcinoma at Risk-Reducing Salpingo-Oophorectomy in Asymptomatic Carriers of BRCA1/2 Pathogenic Variants: Prevalence and Clinical Factors.
    • Stroot IAS, Brouwer J, Bart J, Hollema H, Stommel-Jenner DJ, Wagner MM, van Doorn HC, de Hullu JA, Gaarenstroom KN, Beurden M, van Lonkhuijzen LRCW, Slangen BFM, Zweemer RP, Gómez Garcia EB, Ausems MGEM, Boere IA, van Engelen K, van Asperen CJ, Schmidt MK, Wevers MR, de Bock GH, Mourits MJE; on behalf of the HEBON Investigators.
    • J Clin Oncol. 2023 Feb 21:JCO2201237. doi: 10.1200/JCO.22.01237. Epub ahead of print.

    • Integration of a Cross-Ancestry Polygenic Model With Clinical Risk Factors Improves Breast Cancer Risk Stratification.
    • Tshiaba PT, Ratman DK, Sun JM, Tunstall TS, Levy B, Shah PS, Weitzel JN, Rabinowitz M, Kumar A, Im KM.
    • JCO Precis Oncol. 2023;7:e2200447. doi: 10.1200/PO.22.00447. Epub 2023 Feb 21.