LitAlert ~~ GeneLit.com

    • Prevalence and Clinical Characterization of BRCA1 and BRCA2 Mutations in Korean Patients with Epithelial Ovarian Cancer.
    • Paik ES, Heo EJ, Choi CH, Kim JH, Kim JW, Kim YM, Park SY, Lee JW, Kim JW, Kim BG.
    • Cancer Sci. 2021 Oct 17. doi: 10.1111/cas.15166. Epub ahead of print.
    • ASO Author Reflections: Germline Testing for All Patients With Breast Cancer: Has the Time Finally Come?
    • Mittal A, Pramanik R.
    • Ann Surg Oncol. 2021 Oct 15. doi: 10.1245/s10434-021-10880-8. Epub ahead of print.
    • Inherited Mutations in Chinese Men With Prostate Cancer.
    • Zhu Y, Wei Y, Zeng H, Li Y, Ng CF, Zhou F, He C, Sun G, Ni Y, Chiu PKF, Teoh JYC, Wang B, Pan J, Wan F, Dai B, Qin X, Lin G, Gan H, Wu J, Ye D.
    • J Natl Compr Canc Netw. 2021 Oct 15:1-9. doi: 10.6004/jnccn.2021.7010. Epub ahead of print.
    • Germline Variants Identified in Patients with Early-onset Renal Cell Carcinoma Referred for Germline Genetic Testing.
    • Truong H, Sheikh R, Kotecha R, Kemel Y, Reisz PA, Lenis AT, Mehta NN, Khurram A, Joseph V, Mandelker D, Latham A, Ceyhan-Birsoy O, Ladanyi M, Shah NJ, Walsh MF, Voss MH, Lee CH, Russo P, Coleman JA, Hakimi AA, Feldman DR, Stadler ZK, Robson ME, Motzer RJ, Offit K, Patil S, Carlo MI.
    • Eur Urol Oncol. 2021 Oct 12:S2588-9311(21)00180-2. doi: 10.1016/j.euo.2021.09.005. Epub ahead of print.
  • LitAlert ~~ GeneLit.com

    • Uptake and timing of bilateral and contralateral risk-reducing mastectomy in women with Li-Fraumeni syndrome.
    • Siegel A, Bremer RC, Klein WMP, Savage SA, Loud JT, Khincha PP.
    • Breast Cancer Res Treat. 2021 Oct 15. doi: 10.1007/s10549-021-06410-5. Epub ahead of print.
    • Peutz–Jeghers Syndrome and the Role of Imaging: Pathophysiology, Diagnosis, and Associated Cancers.
    • Klimkowski S, Ibrahim M, Ibarra Rovira JJ, Elshikh M, Javadi S, Klekers AR, Abusaif AA, Moawad AW, Ali K, Elsayes KM.
    • Cancers (Basel). 2021 Oct 13;13(20):5121. doi: 10.3390/cancers13205121.
    • Somatic mosaics in hereditary tumor predisposition syndromes.
    • Steinke-Lange V, de Putter R, Holinski-Feder E, Claes KBM.
    • Eur J Med Genet. 2021 Oct 13;64(12):104360. doi: 10.1016/j.ejmg.2021.104360. Epub ahead of print.
    • Genotype-Cancer Association in Patients with Fanconi Anemia due to Pathogenic Variants in FANCD1 (BRCA2) or FANCN (PALB2).
    • McReynolds LJ, Biswas K, Giri N, Sharan SK, Alter BP.
    • Cancer Genet. 2021 Oct 4. doi: 10.1016/j.cancergen.2021.10.001. Epub ahead of print.
    • BRCA1 Reversion Mutation Confers Resistance to Olaparib and Camrelizumab in a Patient with Breast Cancer Liver Metastasis.
    • Pan JN, Lei L, Ye WW, Wang XJ, Cao WM.
    • J Breast Cancer. 2021 Sep 7. doi: 10.4048/jbc.2021.24.e39. Epub ahead of print.
  • LitAlert ~~ GeneLit.com

    • Tackling PARP inhibitor resistance.
    • Fugger K, Hewitt G, West SC, Boulton SJ.
    • Trends Cancer. 2021 Sep 22:S2405-8033(21)00175-8. doi: 10.1016/j.trecan.2021.08.007. Epub ahead of print.
    • Review
    • The role of the tumor primary chemosensitivity relative to the success of the medical-surgical management in patients with advanced ovarian carcinomas.
    • You B, Freyer G, Gonzalez-Martin A, Lheureux S, McNeish I, Penson RT, Pignata S, Pujade-Lauraine E.
    • Cancer Treat Rev. 2021 Sep 15;100:102294. doi: 10.1016/j.ctrv.2021.102294. Epub ahead of print.
  • LitAlert ~~ GeneLit.com

    • The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome.
    • Resch LD, Hotz A, Zimmer AD, Komlosi K, Singh N, Tzschach A, Windfuhr-Blum M, Juhasz-Boess I, Erbes T, Fischer J, Alter S.
    • Genes (Basel). 2021 Sep 24;12(10):1483. doi: 10.3390/genes12101483.
    • Implant-based immediate reconstruction in prophylactic mastectomy: is the caudal dermis flap a reliable alternative to synthetic mesh or acellular dermal matrix?
    • Heine N, Hoesl V, Seitz S, Prantl L, Brebant V.
    • Arch Gynecol Obstet. 2021 Sep 23. doi: 10.1007/s00404-021-06244-y. Epub ahead of print.
    • Clinical outcome in patients with primary epithelial ovarian cancer and germline BRCA1/2-mutation – real life data.
    • Ataseven B, Tripon D, Schwameis R, Harter P, Rhiem K, Schneider S, Heikaus S, Baert T, Francesco APHeitz F, Traut A, Groeben HT, Schmutzler R, du Bois A.
    • Gynecol Oncol. 2021 Sep 23:S0090-8258(21)01335-4. doi: 10.1016/j.ygyno.2021.09.004. Epub ahead of print.
    • Chirurgie de réduction de risque mammaire et découverte fortuite de cancer : dix ans d’expérience dans un centre de lutte contre le cancer [Prophylactic mastectomy and occult cancer: a ten-year experience at a cancer center].
    • Mangiardi-Veltin M, Chamming's F, Jaffre A, Rousvoal A, Tunon de Lara C, Brouste V, Hoppe S, Sénéchal C.
    • Bull Cancer. 2021 Sep 20:S0007-4551(21)00298-8. French. doi: 10.1016/j.bulcan.2021.05.007. Epub ahead of print.
    • [Article in French]
    • Oncoplastic Mammoplasty with disguised geometric compensation.
    • Paulinelli RR, Ribeiro LFJ, Santos TD, Caires EMS, Pontes MGM, Faria BM, Luz MV, Faria SFC, Freitas-Junior R.
    • Surg Oncol. 2021 Sep 20;39:101660. doi: 10.1016/j.suronc.2021.101660. Epub ahead of print.
    • Loss of nuclear DNA ligase III reverts PARP inhibitor resistance in BRCA1/53BP1 double-deficient cells by exposing ssDNA gaps.
    • Paes Dias M, Tripathi V, van der Heijden I, Cong K, Manolika EM, Bhin J, Gogola E, Galanos P, Annunziato S, Lieftink C, Andújar-Sánchez M, Chakrabarty S, Smith GCM, van de Ven M, Beijersbergen RL, Bartkova J, Rottenberg S, Cantor S, Bartek J, Ray Chaudhuri A, Jonkers J.
    • Mol Cell. 2021 Sep 18:S1097-2765(21)00739-5. doi: 10.1016/j.molcel.2021.09.005. Epub ahead of print.
    • Clinico-radio-pathological Features and Biological Behavior of Breast Cancer in Young Indian Women: A Prospective Study.
    • Sudhir R, Sannapareddy K, Potlapalli A, Penmetsa V.
    • Indian J Radiol Imaging. 2021 Apr;31(2):323-332. doi: 10.1055/s-0041-1734342. Epub 2021 Jul 30.
    • Soluble interleukin-2 receptor as a predictive and prognostic marker for patients with familial breast cancer.
    • Gonda K, Horita S, Maejima Y, Takenoshita S, Shimomura K.
    • Sci Prog. 2021 Jul-Sep;104(3):368504211039590. doi: 10.1177/00368504211039590.
  • LitAlert ~~ GeneLit.com

    • BRCA1/BRCA2 variants of uncertain significance in clinical practice: A case report.
    • Huszno J, Piglowski W, Mazur M, Pamula-Pilat J, Zajkowicz A, Kierzkowska AF, Wojciechowska MO.
    • Mol Clin Oncol. 2021 Nov;15(5):222. doi: 10.3892/mco.2021.2385. Epub 2021 Aug 31.
    • Maintenance treatment with rucaparib for recurrent ovarian carcinoma in ARIEL3, a randomized phase 3 trial: The effects of best response to last platinum-based regimen and disease at baseline on efficacy and safety.
    • Oaknin A, Oza AM, Lorusso D, Aghajanian C, Dean A, Colombo N, Weberpals JI, Clamp AR, Scambia G, Leary A, Holloway RW, Amenedo Gancedo M, Fong PC, Goh JC, O'Malley DM, Armstrong DK, Banerjee S, García-Donas J, Swisher EM, Cameron T, Maloney L, Goble S, Ledermann JA, Coleman RL.
    • Cancer Med. 2021 Sep 21. doi: 10.1002/cam4.4260. Epub ahead of print.
    • A BRCA1 coiled-coil domain variant disrupting PALB2 interaction promotes the development of mammary tumors and confers a targetable defect in homologous recombination repair.
    • Pulver EM, Mukherjee C, van de Kamp G, Roobol SJ, Rother MB, van der Gulden H, de Bruijn R, Lattanzio MV, van der Burg E, Drenth AP, Verkaik NS, Hahn K, Klarenbeek S, de Korte-Grimmerink R, van de Ven M, Pritchard CEJ, Huijbers IJ, Xia B, van Gent DC, Essers J, van Attikum H, Ray Chaudhuri A, Bouwman P, Jonkers J.
    • Cancer Res. 2021 Sep 21:canres.1415.2021. doi: 10.1158/0008-5472.CAN-21-1415. Epub ahead of print.
    • Phase 1b dose expansion and translational analyses of olaparib in combination with capivasertib in recurrent endometrial, triple negative breast, and ovarian cancer.
    • Westin SN, Labrie M, Litton JK, Blucher A, Fang Y, Vellano CP, Marszalek JR, Feng N, Ma X, Creason A, Fellman B, Yuan Y, Lee S, Kim T, Liu J, Chelariu-Raicu A, Chen TH, Kabil N, Soliman PT, Frumovitz M, Schmeler KM, Jazaeri A, Lu KH, Murthy R, Meyer L, Sun C, Sood AK, Coleman RL, Mills GB.
    • Clin Cancer Res. 2021 Sep 13. doi: 10.1158/1078-0432.CCR-21-1656. Epub ahead of print.
  • LitAlert ~~ GeneLit.com

    • Next-Generation Sequencing-Directed Therapy in Patients with Metastatic Breast Cancer in Routine Clinical Practice.
    • Bruzas S, Kuemmel S, Harrach H, Breit E, Ataseven B, Traut A, Rüland A, Kostara A, Chiari O, Dittmer-Grabowski C, Reinisch M.
    • Cancers (Basel). 2021 Sep 11;13(18):4564. doi: 10.3390/cancers13184564.
    • Combination of a 15-SNP Polygenic Risk Score and Classical Risk Factors for the Prediction of Breast Cancer Risk in Cypriot Women.
    • Yiangou K, Kyriacou K, Kakouri E, Marcou Y, Panayiotidis MI, Loizidou MA, Hadjisavvas A, Michailidou K.
    • Cancers (Basel). 2021 Sep 11;13(18):4568. doi: 10.3390/cancers13184568.
    • Circadian PERformance in breast cancer: a germline and somatic genetic study of PER3VNTR polymorphisms and gene co-expression.
    • Fores-Martos J, Cervera-Vidal R, Sierra-Roca J, Lozano-Asencio C, Fedele V, Cornelissen S, Edvarsen H, Tadeo-Cervera I, Eroles P, Lluch A, Tabares-Seisdedos R, Falcó A, Van't Veer LJ, Schmidt M, Quigley DA, Børresen-Dale AL, Kristensen VN, Balmain A, Climent J.
    • NPJ Breast Cancer. 2021 Sep 10;7(1):118. doi: 10.1038/s41523-021-00329-2.
    • Inside prostate cancer news from the 2021 ASCO Genitourinary Cancers Symposium.
    • Iacovelli R, Astore S, Ciccarese C, Cannella MA, Bove P, Iacovelli V, Tortora G.
    • Expert Rev Anticancer Ther. 2021 Sep 9:1-4. doi: 10.1080/14737140.2021.1976148. Epub ahead of print.
    • Conference report
    • After Three Cancer Diagnoses and a Positive BRCA Test, Endometrial Cancer.
    • Walter P.
    • FORCE. Blog. 2021 Sep 9.
    • REV1-Pol? maintains the viability of homologous recombination-deficient cancer cells through mutagenic repair of PRIMPOL-dependent ssDNA gaps.
    • Taglialatela A, Leuzzi G, Sannino V, Cuella-Martin R, Huang JW, Wu-Baer F, Baer R, Costanzo V, Ciccia A.
    • Mol Cell. 2021 Sep 7:S1097-2765(21)00683-3. doi: 10.1016/j.molcel.2021.08.016. Epub ahead of print.
    • Analysis of mutation status and homologous recombination deficiency in tumors of patients with germline BRCA1 or BRCA2 mutations and metastatic breast cancer: OlympiAD.
    • Hodgson D, Lai Z, Dearden S, Barrett JC, Harrington EA, Timms K, Lanchbury J, Wu W, Allen A, Senkus E, Domchek SM, Robson M.
    • Ann Oncol. 2021 Sep 6:S0923-7534(21)04458-6. doi: 10.1016/j.annonc.2021.08.2154. Epub ahead of print.
    • Cost-effectiveness Analysis of Genotype-Specific Surveillance and Preventive Strategies for Gynecologic Cancers Among Women With Lynch Syndrome.
    • Wright JD, Silver ER, Tan SX, Hur C, Kastrinos F.
    • JAMA Netw Open. 2021 Sep 1;4(9):e2123616. doi: 10.1001/jamanetworkopen.2021.23616.

    Commentary:

    Exploring Gene-Specific Guidelines for Risk Management of Gynecological Cancer in Lynch Syndrome

    • Targeting DNA Damage Repair Mechanisms in Pancreas Cancer.
    • Perkhofer L, Golan T, Cuyle PJ, Matysiak-Budnik T, Van Laethem JL, Macarulla T, Cauchin E, Kleger A, Beutel AK, Gout J, Stenzinger A, Van Cutsem E, Bellmunt J, Hammel P, O'Reilly EM, Seufferlein T.
    • Cancers (Basel). 2021 Aug https://genelit.com/wp-admin/profile.php24;13(17):4259. doi: 10.3390/cancers13174259.
  • LitAlert ~~ GeneLit.com

    • Cost-effectiveness Analysis of Genotype-Specific Surveillance and Preventive Strategies for Gynecologic Cancers Among Women With Lynch Syndrome.
    • Wright JD, Silver ER, Tan SX, Hur C, Kastrinos F.
    • JAMA Netw Open. 2021 Sep 9;4(9):e2123616. doi: 10.1001/jamanetworkopen.2021.23616.

    Commentary:

    Exploring Gene-Specific Guidelines for Risk Management of Gynecological Cancer in Lynch Syndrome

    • The prevalence of ataxia telangiectasia mutated (ATM) variants in patients with breast cancer patients: a systematic review and meta-analysis.
    • Moslemi M, Vafaei M, Khani P, Soheili M, Nedaeinia R, Manian M, Moradi Y, Sohrabi E.
    • Cancer Cell Int. 2021 Sep 8;21(1):474. doi: 10.1186/s12935-021-02172-8.
    • Transcriptome of Male Breast Cancer Matched with Germline Profiling Reveals Novel Molecular Subtypes with Possible Clinical Relevance.
    • Zelli V, Silvestri V, Valentini V, Bucalo A, Rizzolo P, Zanna I, Bianchi S, Coppa A, Giannini G, Cortesi L, Calistri D, Grazia Tibiletti M, Fox SB, kConFab, Palli D, Ottini L.
    • Cancers (Basel). 2021 Sep 8;13(18):4515. doi: 10.3390/cancers13184515.
    • Germline Genetic Testing for Women With Breast Cancer: Shifting the Paradigm From Whom to Test to Whom NOT to Test.
    • Tung N, Desai N.
    • J Clin Oncol. 2021 Sep 7:JCO2101761. doi: 10.1200/JCO.21.01761. Epub ahead of print.

    Original research:

    Risk of Late-Onset Breast Cancer in Genetically Predisposed Women.

    Original research:

    Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.

    • Ceralasertib-Mediated ATR Inhibition Combined With Olaparib in Advanced Cancers Harboring DNA Damage Response and Repair Alterations (Olaparib Combinations).
    • Mahdi H, Hafez N, Doroshow D, Sohal D, Keedy V, Do KT, LoRusso P, Jürgensmeier J, Avedissian M, Sklar J, Glover C, Felicetti B, Dean E, Mortimer P, Shapiro GI, Eder JP.
    • JCO Precis Oncol. 2021;5:1432. doi: 10.1200/PO.20.00439. Epub 2021 Sep 7.
    • Long-term response to olaparib in BRCA1-related ovarian cancer with brain metastases.
    • Gallego A, Garrido D, Yébenes L, Mendiola M, Castelo B, Redondo A.
    • Int J Gynecol Cancer. 2021 Sep;31(9):1292-1296. doi: 10.1136/ijgc-2020-002225.
    • The Fanconi anemia pathway and Breast Cancer: A comprehensive review of clinical data.
    • Gianni P, Matenoglou E, Geropoulos G, Agrawal N, Adnani H, Zafeiropoulos S, Miyara SJ, Guevara S, Mumford JM, Molmenti EP, Giannis D.
    • Clin Breast Cancer. 2021 Aug 10:S1526-8209(21)00238-X. doi: 10.1016/j.clbc.2021.08.001. Epub ahead of print.
    • Review
  • LitAlert ~~ GeneLit.com

    • Germline variants in DNA repair genes, including BRCA1/2, may cause familial myeloproliferative neoplasms.
    • Elbracht M, Meyer R, Kricheldorf K, Gezer D, Thomas E, Betz B, Kurth I, Teichmann LL, Brümmendorf TH, Germing U, Isfort S, Koschmieder S.
    • Blood Adv. 2021 Sep 14;5(17):3373-3376. doi: 10.1182/bloodadvances.2021004811.
    • Patients with bi-allelic BRCA1/2 inactivation respond to olaparib treatment across histologic tumor types.
    • van der Wijngaart H, Hoes LR, van Berge Henegouwen JM, van der Velden DL, Zeverijn LJ, Roepman P, van Werkhoven E, de Leng WWJ, Jansen AML, Mehra N, Robbrecht DGJ, Labots M, de Groot DJA, Hoeben A, Hamberg P, Gelderblom H, Voest EE, Verheul HMW.
    • Clin Cancer Res. 2021 Sep 2:clincanres.1104.2021. doi: 10.1158/1078-0432.CCR-21-1104. Epub ahead of print.
    • Immune microenvironment composition in high-grade serous ovarian cancers based on BRCA mutational status.
    • Corvigno S, Burks JK, Hu W, Zhong Y, Jennings NB, Fleming ND, Westin SN, Fellman B, Liu J, Sood AK.
    • J Cancer Res Clin Oncol. 2021 Sep 2. doi: 10.1007/s00432-021-03778-1. Epub ahead of print.
    • Homologous Recombination Deficiency Alterations in Colorectal Cancer: Clinical, Molecular, and Prognostic Implications.
    • Moretto R, Elliott A, Zhang J, Arai H, Germani MM, Conca V, Xiu J, Stafford P, Oberley M, Abraham J, Spetzler D, Rossini D, Antoniotti C, Marshall J, Shields A, Lopes G, Lonardi S, Pietrantonio F, Tomasello G, Passardi A, Tamburini E, Santini D, Aprile G, Masi G, Falcone A, Lenz HJ, Korn M, Cremolini C.
    • J Natl Cancer Inst. 2021 Sep 1:djab169. doi: 10.1093/jnci/djab169. Epub ahead of print.

    Research news:

    Are Homologous Recombination Deficiency Mutations Relevant in Colorectal Cancer?

    • Ovarian Serous Carcinoma With a Novel HSP90AB1 Mutation in a Patient With Synchronous Primary Fallopian Tube Serous Carcinoma.
    • Lai J, Tong C, Chien JR.
    • Anticancer Res. 2021 Sep;41(9):4417-4422. doi: 10.21873/anticanres.15248.
    • Case report
    • Discovery of structural deletions in breast cancer predisposition genes using whole genome sequencing data from > 2000 women of African-ancestry.
    • Chen Z, Guo X, Long J, Ping J, Li B, Fadden MK, Ahearn TU, Stram DO, Shu XO, Jia G, Figueroa J; Ghana Breast Health Study team, Palmer JR, Sanderson M, Haiman CA, Blot WJ, Garcia-Closas M, Cai Q, Zheng W.
    • Hum Genet. 2021 Aug 27. doi: 10.1007/s00439-021-02342-8. Epub ahead of print.
    • A rare case of breast cancer in a transgender woman.
    • Sieberg R, Soriano K, Zuurbier R.
    • Radiol Case Rep. 2021 Aug 26;16(11):3285-3288. doi: 10.1016/j.radcr.2021.07.052.