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    Original research:

    BRCA1 Expression by Immunohistochemistry and Prognosis in Ovarian Cancer: A Systematic Review and Meta-Analysis.

    Reply, Letter:

    Author's Reply to Jia et al.: "BRCA1 Expression by Immunohistochemistry and Prognosis in Ovarian Cancer: A Systematic Review and Meta-Analysis".

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    • Nat Commun. 2022 Jul 25;13(1):4285. doi: 10.1038/s41467-022-32011-x.
    • Clinical characteristics and molecular aspects of low-grade serous ovarian and peritoneal cancer: a multicenter, observational, retrospective analysis of MITO Group (MITO 22).
    • Musacchio L, Califano D, Bartoletti M, Arenare L, Lorusso D, Losito NS, Cormio G, Greggi S, Raspagliesi F, Valabrega G, Salutari V, Pisano C, Spina A, Russo D, Del Sesto M, Canzonieri V, Ferraù F, Zannoni GF, Loizzi V, Ghizzoni V, Casanova C, Tuninetti V, Ducceschi M, Del Vecchio V, Scalone S, Priolo D, Perrone F, Scambia G, Pignata S.
    • Br J Cancer. 2022 Jul 22. doi: 10.1038/s41416-022-01897-1. Epub ahead of print.

    Identifier: NCT02408536: Observational Retrospective Study on Treatment and Outcomes in Patients With Low-grade Serous Ovarian Cancer (MITO 22). (ClinicalTrials.gov)

    • Prognostic Value of Stromal Tumor-Infiltrating Lymphocytes in Young, Node-Negative, Triple-Negative Breast Cancer Patients Who Did Not Receive (neo)Adjuvant Systemic Therapy.
    • de Jong VMT, Wang Y, Ter Hoeve ND, Opdam M, Stathonikos N, Józwiak K, Hauptmann M, Cornelissen S, Vreuls W, Rosenberg EH, Koop EA, Varga Z, van Deurzen CHM, Mooyaart AL, Córdoba A, Groen EJ, Bart J, Willems SM, Zolota V, Wesseling J, Sapino A, Chmielik E, Ryska A, Broeks A, Voogd AC, Loi S, Michiels S, Sonke GS, van der Wall E, Siesling S, van Diest PJ, Schmidt MK, Kok M, Dackus GMHE, Salgado R, Linn SC.
    • J Clin Oncol. 2022 Jul 20;40(21):2361-2374. doi: 10.1200/JCO.21.01536. Epub 2022 Mar 30.
    • Comprehensive Genomic Profiling in the Management of Ovarian Cancer-National Results from Croatia.
    • Cerina D, Matkovic V, Katic K, Belac Lovasic I, Šeparovic R, Canjko I, Bajic Ž, Vrdoljak E.
    • J Pers Med. 2022 Jul 19;12(7):1176. doi: 10.3390/jpm12071176.
    • Functional assessment of missense variants of uncertain significance in the cancer susceptibility gene PALB2.
    • Wu S, Qi L, Chen H, Zhang K, He J, Guo X, Shen L, Zhou Y, Zhong X, Zheng S, Zhou J, Chen Y.
    • NPJ Breast Cancer. 2022 Jul 19;8(1):86. doi: 10.1038/s41523-022-00454-6.
    • Oncologists Seeing Lack of PARP Inhibitor Response in MSI-High, BRCA-Mutant Prostate Cancer Patients.
    • Kanski A.
    • Precision Oncology News. Biomarkers. BRCA. 2022 Jul 13.
    • Research news

    Original research:

    PARP Inhibitor Insensitivity to BRCA1/2 Monoallelic Mutations in Microsatellite Instability-High Cancers.

    • Expression of DNA Helicase Genes Was Correlated with Homologous Recombination Deficiency in Breast Cancer.
    • Long M, Liu H, Wu J, Wang S, Liao X, Liu Y, Hu T.
    • Comput Math Methods Med. 2022 Jul 9;2022:5508301. doi: 10.1155/2022/5508301.
    • Templated Insertions Are Associated Specifically with BRCA2 Deficiency and Overall Survival in Advanced Ovarian Cancer.
    • Moore G, Majumdar R, Powell SN, Khan AJ, Weinhold N, Yin S, Higginson DS.
    • Mol Cancer Res. 2022 Jul 6;20(7):1061-1070. doi: 10.1158/1541-7786.MCR-21-1012.
    • Genomic and epigenomic BRCA alterations predict adaptive resistance and response to platinum-based therapy in patients with triple-negative breast and ovarian carcinomas.
    • Menghi F, Banda K, Kumar P, Straub R, Dobrolecki L, Rodriguez IV, Yost SE, Chandok H, Radke MR, Somlo G, Yuan Y, Lewis MT, Swisher EM, Liu ET.
    • Sci Transl Med. 2022 Jul 6;14(652):eabn1926. doi: 10.1126/scitranslmed.abn1926. Epub 2022 Jul 6.

    Research news: Breast, Ovarian Cancer Study Finds Ties Between Types of BRCA Alterations, Treatment Response. (Precision Oncology News)

    • Brief family history questionnaire to screen for Lynch syndrome in women with newly diagnosed non-serous, non-mucinous ovarian cancers.
    • Kim SR, Tone A, Kim R, Cesari M, Clarke B, Hart T, Aronson M, Holter S, Lytwyn A, Maganti M, Oldfield L, Gallinger S, Bernardini MQ, Oza AM, Djordjevic B, Lerner-Ellis J, Van de Laar E, Vicus D, Pugh TJ, Pollett A, Ferguson SE, Eiriksson L.
    • Int J Gynecol Cancer. 2022 Jul 4;32(7):891-898. doi: 10.1136/ijgc-2021-003082.
    • Evaluating Mismatch Repair Status to Screen Clinical Advanced Breast Carcinomas for Immunotherapy: Experience From a Large Academic Institution.
    • Arole V, Shafi S, Challa B, Parwani AV, Tozbikian G, Li Z.
    • Clin Breast Cancer. 2022 Jul;22(5):e680-e684. doi: 10.1016/j.clbc.2022.01.010. Epub 2022 Jan 22.
    • Durable Disease-free Survival in a Patient with Metastatic Triple-negative Breast Cancer Treated with Olaparib Monotherapy.
    • Wang X, Hu N, Cui L, Si Y, Yue J, Zheng F, Kang Y, Yuan P.
    • Curr Cancer Drug Targets. 2022 [Jul];22(6):530-536. doi: 10.2174/1568009622666220214092207.
    • A comprehensive literature review and meta-analysis of the prevalence of pan-cancer BRCA mutations, homologous recombination repair gene mutations, and homologous recombination deficiencies.
    • Shao C, Wan J, Lam FC, Tang H, Marley AR, Song Y, Miller C, Brown M, Han J, Adeboyeje G.
    • Environ Mol Mutagen. 2022 Jul;63(6):308-316. doi: 10.1002/em.22505. Epub 2022 Aug 30.
    • Genomic Biomarkers and Genome-Wide Loss-of-Heterozygosity Scores in Metastatic Prostate Cancer Following Progression on Androgen-Targeting Therapies.
    • Zurita AJ, Graf RP, Villacampa G, Raskina K, Sokol E, Jin D, Antonarakis ES, Li G, Huang RSP, Casanova-Salas I, Vivancos A, Carles J, Ross JS, Schrock AB, Oxnard GR, Mateo J.
    • JCO Precis Oncol. 2022 Jul;6:e2200195. doi: 10.1200/PO.22.00195.
    • TP53 variants in p53 signatures and the clonality of STICs in RRSO samples.
    • Akahane T, Masuda K, Hirasawa A, Kobayashi Y, Ueki A, Kawaida M, Misu K, Nakamura K, Nagai S, Chiyoda T, Yamagami W, Hayashi S, Kataoka F, Banno K, Sugano K, Okita H, Kosaki K, Nishihara H, Aoki D.
    • J Gynecol Oncol. 2022 Jul;33(4):e50. doi: 10.3802/jgo.2022.33.e50. Epub 2022 Mar 21.
    • Genomic catastrophe, the peritoneal cavity and ovarian cancer prevention.
    • Yoon JY, Chapel DB, Goebel E, Qian X, Mito JK, Horowitz NS, Miron A, Soong TR, Xian W, Crum CP.
    • J Pathol. 2022 Jul;257(3):255-261. doi: 10.1002/path.5891. Epub 2022 Apr 18.
    • Review
    • Recombinant human chorionic gonadotropin induces signaling pathways towards cancer prevention in the breast of BRCA1/2 mutation carriers.
    • Su Y, Dang NM, Depypere H, Santucci-Pereira J, Gutiérrez-Díez PJ, Kanefsky J, Janssens JP, Russo J.
    • Eur J Cancer Prev. 2022 Jun 30. doi: 10.1097/CEJ.0000000000000763. Epub ahead of print.
    • Proteomic Analysis Identifies p62/SQSTM1 as a Critical Player in PARP Inhibitor Resistance.
    • Uddin MH, Zhou JY, Pimentel J, Patrick SM, Kim S, Shekhar MP, Wu GS.
    • Front Oncol. 2022 Jun 29;12:908603. doi: 10.3389/fonc.2022.908603.
    • An Integrated Approach for the Early Detection of Endometrial and Ovarian Cancers (Screenwide Study): Rationale, Study Design and Pilot Study.
    • Peremiquel-Trillas P, Paytubi S, Pelegrina B, Frias-Gomez J, Carmona Á, Martínez JM, de Francisco J, Benavente Y, Barahona M, Briansó F, Canet-Hermida J, Caño V, Vidal A, Zanca A, Baixeras N, Rodríguez A, Fernández-Gonzalez S, Dueñas N, Càrdenas L, Aytés Á, Bianchi I, Pavón MÀ, Reventós J, Capellà G, Gómez D, Diaz M, Ponce J, Brunet J, Matias-Guiu X, Bosch FX, de Sanjosé S, Alemany L, Pineda M, Marin F, Costas L.
    • J Pers Med. 2022 Jun 29;12(7):1074. doi: 10.3390/jpm12071074.
    • EARS2 significantly coexpresses with PALB2 in breast and pancreatic cancer.
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    • The impact of rare germline variants on human somatic mutation processes.
    • Vali-Pour M, Lehner B, Supek F.
    • Nat Commun. 2022 Jun 28;13(1):3724. doi: 10.1038/s41467-022-31483-1.

    Research news: Cancer Risk May Be Influenced by Rare Germline Variants. (Inside Precision Medicine)

    • Intraductal Papillary Mucinous Neoplasms in Hereditary Cancer Syndromes.
    • Ardeshna DR, Rangwani S, Cao T, Pawlik TM, Stanich PP, Krishna SG.
    • Biomedicines. 2022 Jun 22;10(7):1475. doi: 10.3390/biomedicines10071475.
    • A Japanese case of castration-resistant prostate cancer with BRCA2 and RB1 co-loss and TP53 mutation: a case report.
    • Iwasawa T, Kosaka T, Morita S, Mikami S, Nakamura K, Hongo H, Nishihara H, Oya M.
    • BMC Med Genomics. 2022 Jun 20;15(1):138. doi: 10.1186/s12920-022-01286-w.
    • The Breast Cancer Protooncogenes HER2, BRCA1 and BRCA2 and Their Regulation by the iNOS/NOS2 Axis.
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    • Antioxidants (Basel). 2022 Jun 17;11(6):1195. doi: 10.3390/antiox11061195.
    • Investigation of BRCAness associated miRNA-gene axes in breast cancer: cell-free miR-182-5p as a potential expression signature of BRCAness.
    • Darbeheshti F, Kadkhoda S, Keshavarz-Fathi M, Razi S, Bahramy A, Mansoori Y, Rezaei N.
    • BMC Cancer. 2022 Jun 17;22(1):668. doi: 10.1186/s12885-022-09761-4.
    • The Great Majority of Homologous Recombination Repair-Deficient Tumors Are Accounted for by Established Causes.
    • Štancl P, Hamel N, Sigel KM, Foulkes WD, Karlic R, Polak P.
    • Front Genet. 2022 Jun 17;13:852159. doi: 10.3389/fgene.2022.852159.
    • The tumor mutational landscape of BRCA2-deficient primary and metastatic prostate cancer.
    • Kensler KH, Baichoo S, Pathania S, Rebbeck TR.
    • NPJ Precis Oncol. 2022 Jun 17;6(1):39. doi: 10.1038/s41698-022-00284-6.
    • Antiprogestins reduce epigenetic field cancerization in breast tissue of young healthy women.
    • Bartlett TE, Evans I, Jones A, Barrett JE, Haran S, Reisel D, Papaikonomou K, Jones L, Herzog C, Pashayan N, Simões BM, Clarke RB, Evans DG, Ghezelayagh TS, Ponandai-Srinivasan S, Boggavarapu NR, Lalitkumar PG, Howell SJ, Risques RA, Rådestad AF, Dubeau L, Gemzell-Danielsson K, Widschwendter M.
    • Genome Med. 2022 Jun 15;14(1):64. doi: 10.1186/s13073-022-01063-5.

    EudraCT number: 2009-009014-40: Pre-treatment with Mifepristone prior to Mirena insertion for optimizing bleeding pattern in pre-menopausal women. (EU Clinical Trials Register)

    Identifier: NCT01898312: BRCA1/2 and Effect of Mifepristone on the Breast. (ClinicalTrials.gov)

    EudraCT number: 2015-001587-19: A pilot prevention study of the effects of the anti-progestin Ulipristal Acetate (UA) on surrogate markers of breast cancer risk. (EU Clinical Trials Register)

    • Pilot Study: PARP1 Imaging in Advanced Prostate Cancer.
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    • Mol Imaging Biol. 2022 Jun 14. doi: 10.1007/s11307-022-01746-w. Epub ahead of print.
    • Biomarker Assessment of Homologous Recombination Deficiency in Epithelial Ovarian Cancer: Association With Progression-Free Survival After Surgery.
    • Yi H, Li L, Huang J, Ma Z, Li H, Chen J, Zheng X, Chen J, He H, Song J.
    • Front Mol Biosci. 2022 Jun 13;9:906922. doi: 10.3389/fmolb.2022.906922.
    • Pan-cancer analysis of genomic scar patterns caused by homologous repair deficiency (HRD).
    • Rempel E, Kluck K, Beck S, Ourailidis I, Kazdal D, Neumann O, Volckmar AL, Kirchner M, Goldschmid H, Pfarr N, Weichert W, Hübschmann D, Fröhling S, Sutter C, Schaaf CP, Schirmacher P, Endris V, Stenzinger A, Budczies J.
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    • Characterization of rare histological subtypes of ovarian cancer based on molecular profiling.
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    • Cancer Med. 2022 Jun 8. doi: 10.1002/cam4.4927. Epub ahead of print.
    • Genomic Signatures from Clinical Tumor Sequencing in Patients with Breast Cancer Having Germline BRCA1/2 Mutation.
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    • Cancer Res Treat. 2022 Jun 8. doi: 10.4143/crt.2021.1567. Epub ahead of print.
    • Case report: Response to platinum agents and poly (adenosine diphosphate-ribose) polymerase inhibitor in a patient with BRCA1 c.5096G>A (R1699Q) intermediate-risk variant.
    • Saito A, Tanioka M, Hirata M, Watanabe T, Odaka Y, Shimoi T, Sudo K, Noguchi E, Ishikawa M, Yonemori K.
    • Cancer Treat Res Commun. 2022 [Epub 2022 Jun 8];32:100587. doi: 10.1016/j.ctarc.2022.100587. Epub 2022 Jun 8.
    • A human breast atlas integrating single-cell proteomics and transcriptomics.
    • Gray GK, Li CM, Rosenbluth JM, Selfors LM, Girnius N, Lin JR, Schackmann RCJ, Goh WL, Moore K, Shapiro HK, Mei S, D'Andrea K, Nathanson KL, Sorger PK, Santagata S, Regev A, Garber JE, Dillon DA, Brugge JS.
    • Dev Cell. 2022 Jun 6;57(11):1400-1420.e7. doi: 10.1016/j.devcel.2022.05.003. Epub 2022 May 25.
    • Stratification of Oligometastatic Prostate Cancer Patients by Liquid Biopsy: Clinical Insights from a Pilot Study.
    • Colosini A, Bernardi S, Foroni C, Pasinetti N, Guerini AE, Russo D, Bresciani R, Tomasi C, Magrini SM, Bardoscia L, Triggiani L.
    • Biomedicines. 2022 Jun 4;10(6):1321. doi: 10.3390/biomedicines10061321.
    • Associations of Plasma Bioactive Adrenomedullin Levels with Cardiovascular Risk Factors in BRCA1/2 Mutation Carriers.
    • Lammert J, Basrai M, Struck J, Hartmann O, Engel C, Bischoff SC, Berling-Ernst A, Halle M, Kiechle M, Grill S.
    • Geburtshilfe Frauenheilkd. 2022 Jun 3;82(6):601-609. doi: 10.1055/a-1811-2164.

    Identifier: NCT02087592: Feasibility of Lifestyle Intervention in BRCA1/2 Mutation Carriers (LIBRE). (ClinicalTrials.gov)

    Identifier: NCT02516540: Efficacy of Lifestyle Intervention in BRCA1/2 Mutation Carriers (LIBRE-2). (ClinicalTrials.gov)

    • Are Mutation Carrier Patients Different from Non-Carrier Patients? Genetic, Pathology, and US Features of Patients with Breast Cancer.
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    • Cancers (Basel). 2022 Jun 2;14(11):2759. doi: 10.3390/cancers14112759.
    • Genetic Aspects of Mammographic Density Measures Associated with Breast Cancer Risk.
    • Li S, Nguyen TL, Nguyen-Dumont T, Dowty JG, Dite GS, Ye Z, Trinh HN, Evans CF, Tan M, Sung J, Jenkins MA, Giles GG, Hopper JL, Southey MC.
    • Cancers (Basel). 2022 Jun 2;14(11):2767. doi: 10.3390/cancers14112767.
    • BARD1 mystery: tumor suppressors are cancer susceptibility genes.
    • Hawsawi YM, Shams A, Theyab A, Abdali WA, Hussien NA, Alatwi HE, Alzahrani OR, Oyouni AAA, Babalghith AO, Alreshidi M.
    • BMC Cancer. 2022 Jun 1;22(1):599. doi: 10.1186/s12885-022-09567-4.
    • Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.
    • Waks AG, Kim D, Jain E, Snow C, Kirkner GJ, Rosenberg SM, Oh C, Poorvu PD, Ruddy KJ, Tamimi RM, Peppercorn J, Schapira L, Borges VF, Come SE, Brachtel EF, Warner E, Collins LC, Partridge AH, Wagle N.
    • Clin Cancer Res. 2022 Jun 1;28(11):2339-2348. doi: 10.1158/1078-0432.CCR-21-2572.

    Commentary:

    One Size Does Not Fit All: Breast Cancer in Young Women.

    • Ipilimumab/Nivolumab Therapy in Patients With Metastatic Pancreatic or Biliary Cancer With Homologous Recombination Deficiency Pathogenic Germline Variants.
    • Terrero G, Datta J, Dennison J, Sussman DA, Lohse I, Merchant NB, Hosein PJ.
    • JAMA Oncol. 2022 Jun 1;8(6):1-3. doi: 10.1001/jamaoncol.2022.0611.
    • Prevalence of Tumor Genomic Alterations in Homologous Recombination Repair Genes Among Taiwanese Breast Cancers.
    • Huang CC, Tsai YF, Liu CY, Lien PJ, Lin YS, Chao TC, Feng CJ, Chen YJ, Lai JI, Phan NN, Hsu CY, Chiu JH, Tseng LM.
    • Ann Surg Oncol. 2022 Jun;29(6):3578-3590. doi: 10.1245/s10434-022-11347-0. Epub 2022 Feb 28.
    • PTEN alterations in sporadic and BRCA1-associated triple negative breast carcinomas.
    • Jones N, Gros A, Velasco V, Dapremont V, Brouste V, Gastaldello B, Debled M, Tunon de Lara C, Bonnet F, Barouk-Simonet E, Bubien V, Venat L, MacGrogan G, Longy M, Sevenet N.
    • Cancer Genet. 2022 Jun;264-265:8-15. doi: 10.1016/j.cancergen.2022.02.008. Epub 2022 Feb 25.
    • Should We Test Cancer Susceptibility Genes in Routinely Used Multigene Panels? A Case of Synchronous Lung Adenocarcinoma and Breast Cancer Associated With Germline CHEK2 Mutation.
    • Federico AD, Gelsomino F, De Biase D, Ardizzoni A.
    • Clin Lung Cancer. 2022 Jun;23(4):e283-e284. doi: 10.1016/j.cllc.2021.09.011. Epub 2021 Oct 10.
    • Letter, Case report

    Case report:

    The Common Thread: A Case of Synchronous Lung Cancers and a Germline CHEK2 Mutation.

    • Immunohistochemical Evaluation of BAP1 Expression in Breast Cancer with Known BRCA1 and BRCA2 Mutations and Comparison with Histopathological Features.
    • Çalim-Gürbüz B, Güvendir I, Ünal B, Erdogan-Durmus S, Topal CS, Agaoglu NB, Doganay HL, Kizilboga T, Zemheri IE.
    • Int J Surg Pathol. 2022 Jun;30(4):397-404. doi: 10.1177/10668969221085969. Epub 2022 Mar 9.
    • PARP Inhibitor Insensitivity to BRCA1/2 Monoallelic Mutations in Microsatellite Instability-High Cancers.
    • Sokol ES, Jin DX, Fine A, Trabucco SE, Maund S, Frampton G, Molinero L, Antonarakis ES.
    • JCO Precis Oncol. 2022 Jun;6:e2100531. doi: 10.1200/PO.21.00531.

    Research news: Oncologists Seeing Lack of PARP Inhibitor Response in MSI-High, BRCA-Mutant Prostate Cancer Patients. (Precision Oncology News)

    • Concurrent Germline BRCA1/2 and Mismatch Repair Mutations in Young-Onset Pancreatic and Colorectal Cancer: The Importance of Comprehensive Germline and Somatic Characterization to Inform Therapeutic Options.
    • Ozer M, Ranganathan M, Lecomte N, Schvartzman JM, Walch HS, Chatila WK, Hong J, Carlo MI, Walsh MF, Sheehan M, Mandelker D, Ceyhan-Birsoy O, Maio A, Kemel Y, Iacobuzio-Donahue CA, O'Reilly EM, Yu KH.
    • JCO Precis Oncol. 2022 Jun;6:e2100560. doi: 10.1200/PO.21.00560.
    • Case report
    • Homologous Recombination Deficiency in Pancreatic Cancer: Poly (ADP-ribose) Polymerase Inhibition, Checkpoint Inhibition, or a Combination of Both?
    • Keane F, Park W, O'Reilly EM.
    • JCO Precis Oncol. 2022 Jun;6:e2200141. doi: 10.1200/PO.22.00141.

    Letter, Reply:

    Reply to F. Keane et al.

    Original research:

    Exceptional Response to Olaparib and Pembrolizumab for Pancreatic Adenocarcinoma With Germline BRCA1 Mutation and High Tumor Mutation Burden: Case Report and Literature Review.

    • Functional RECAP (REpair CAPacity) assay identifies homologous recombination deficiency undetected by DNA-based BRCAness tests.
    • Meijer TG, Nguyen L, Van Hoeck A, Sieuwerts AM, Verkaik NS, Ladan MM, Ruigrok-Ritstier K, van Deurzen CHM, van de Werken HJG, Lips EH, Linn SC, Memari Y, Davies H, Nik-Zainal S, Kanaar R, Martens JWM, Cuppen E, Jager A, van Gent DC.
    • Oncogene. 2022 Jun;41(26):3498-3506. doi: 10.1038/s41388-022-02363-1. Epub 2022 Jun 3.
    • CT-Based Radiomics and Deep Learning for BRCA Mutation and Progression-Free Survival Prediction in Ovarian Cancer Using a Multicentric Dataset.
    • Avesani G, Tran HE, Cammarata G, Botta F, Raimondi S, Russo L, Persiani S, Bonatti M, Tagliaferri T, Dolciami M, Celli V, Boldrini L, Lenkowicz J, Pricolo P, Tomao F, Rizzo SMR, Colombo N, Manganaro L, Fagotti A, Scambia G, Gui B, Manfredi R.
    • Cancers (Basel). 2022 May 31;14(11):2739. doi: 10.3390/cancers14112739.
    • The Pathogenic R3052W BRCA2 Variant Disrupts Homology-Directed Repair by Failing to Localize to the Nucleus.
    • Jimenez-Sainz J, Krysztofiak A, Garbarino J, Rogers F, Jensen RB.
    • Front Genet. 2022 May 30;13:884210. doi: 10.3389/fgene.2022.884210.
    • Allele-informed copy number evaluation of plasma DNA samples from metastatic prostate cancer patients: the PCF_SELECT consortium assay.
    • Orlando F, Romanel A, Trujillo B, Sigouros M, Wetterskog D, Quaini O, Leone G, Xiang JZ, Wingate A, Tagawa S, Jayaram A, Linch M; PEACE Consortium, Jamal-Hanjani M, Swanton C, Rubin MA, Wyatt AW, Beltran H, Attard G, Demichelis F.
    • NAR Cancer. 2022 May 27;4(2):zcac016. doi: 10.1093/narcan/zcac016.
    • Upregulation of CXCL1 and LY9 contributes to BRCAness in ovarian cancer and mediates response to PARPi and immune checkpoint blockade.
    • Chen T, Yu T, Zhuang S, Geng Y, Xue J, Wang J, Ai L, Chen B, Zhao Z, Li Y, Wang J, Liang H, Xu Y, Gu Y.
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    • Clinical Landscape of PARP Inhibitors in Ovarian Cancer: Molecular Mechanisms and Clues to Overcome Resistance.
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    • Homologous recombination deficiency in diverse cancer types and its correlation with platinum chemotherapy efficiency in ovarian cancer.
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    • BMC Cancer. 2022 May 16;22(1):550. doi: 10.1186/s12885-022-09602-4.
    • Molecular Characterization of BRCA1 c.5339T>C Missense Mutation in DNA Damage Response of Triple-Negative Breast Cancer.
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    • Identification of biomarkers of response to preoperative talazoparib monotherapy in treatment naïve gBRCA+ breast cancers.
    • Liu X, Ge Z, Yang F, Contreras A, Lee S, White JB, Lu Y, Labrie M, Arun BK, Moulder SL, Mills GB, Piwnica-Worms H, Litton JK, Chang JT.
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    • Low CRIM1 Levels Predict Poor Prognosis in Breast Cancer Patients.
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    • Front Oncol. 2022 May 6;12:882328. doi: 10.3389/fonc.2022.882328.
    • Protocol for the Detection of Organoid-Initiating Cell Activity in Patient-Derived Single Fallopian Tube Epithelial Cells.
    • Feng L, Yang W, Zhao H, Bakkum-Gamez J, Sherman ME, Kannan N.
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    • BRCA status and platinum sensitivity in advanced ovarian cancer according to Chemotherapy Response Score.
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    • Alterations in homologous recombination repair genes in prostate cancer brain metastases.
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    • Data Brief. 2022 Apr 14;42:108180. doi: 10.1016/j.dib.2022.108180.

    Original research:

    Mutations in BRCA-related breast and ovarian cancer in the South African Indian population: A descriptive study.

    • Delineating the role of osteoprotegerin as a marker of breast cancer risk among women with a BRCA1 mutation.
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    • J Natl Cancer Inst. 2022 Apr 11;114(4):565-570. doi: 10.1093/jnci/djab231.

    Commentary:

    Untangling the Relationship Between Clonal Hematopoiesis and Ovarian Cancer Therapies.

    • Fallopian Tube Originating Ovarian Cancer in a 53-Year-Old Postmenopausal Female With Hereditary Breast Cancer (BRCA) Genes: A Case Study.
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    • Modification of BRCA1-associated breast cancer risk by HMMR overexpression.
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    • Incidence and impact of brain metastasis in patients with hereditary BRCA1 or BRCA2 mutated invasive breast cancer.
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    • Identification and Somatic Characterization of the Germline PTEN Promoter Variant rs34149102 in a Family with Gastrointestinal and Breast Tumors.
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    • Cancer Causative Mutations Occurring in Early Embryogenesis.
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    • Cancer Discov. 2022 Apr 1;12(4):949-957. doi: 10.1158/2159-8290.CD-21-1110.

    Commentary:

    Patchwork Cancer Predisposition.

    • Association of Genetic Ancestry and Molecular Signatures with Cancer Survival Disparities: A Pan-Cancer Analysis.
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    • Somatic loss of the remaining allele occurs approximately in half of CHEK2-driven breast cancers and is accompanied by a border-line increase of chromosomal instability.
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    • The Interplay between PARP Inhibitors and Immunotherapy in Ovarian Cancer: The Rationale behind a New Combination Therapy.
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    • Habitat Analysis of Breast Cancer-Enhanced MRI Reflects BRCA1 Mutation Determined by Immunohistochemistry.
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    • PARP-1 Expression and BRCA1 Mutations in Breast Cancer Patients' CTCs.
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    • BRCA1/2 Serves as a Biomarker for Poor Prognosis in Breast Carcinoma.
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    • Focal Serous Tubal Intra-Epithelial Carcinoma Lesions Are Associated With Global Changes in the Fallopian Tube Epithelia and Stroma.
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    • Front Oncol. 2022 Mar 21;12:853755. doi: 10.3389/fonc.2022.853755.
    • Establish of an Initial Platinum-Resistance Predictor in High-Grade Serous Ovarian Cancer Patients Regardless of Homologous Recombination Deficiency Status.
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    • Front Oncol. 2022 Mar 18;12:847085. doi: 10.3389/fonc.2022.847085.
    • Looking for a Simplified Diagnostic Model to Identify Potentially Lethal Cases of Prostate Cancer at Initial Diagnosis: An ImGO Pilot Study.
    • Macrini S, Francesconi S, Caprera C, Lancia D, Corsi M, Gunnellini M, Rocchi A, Pireddu A, Marziani F, Mosillo C, Calandrella ML, Caserta C, Giannarelli D, Guida A, Ascani S, Bracarda S.
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    • Influence of cellular models and individual factor in the biological response to chest CT scan exams.
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    • Breast Cancer Phenotype Associated With Li-Fraumeni Syndrome: A Brazilian Cohort Enriched by TP53 p.R337H Carriers.
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    • Front Oncol. 2022 Mar 16;12:836937. doi: 10.3389/fonc.2022.836937.
    • BRCA1 mutations in high-grade serous ovarian cancer are associated with proteomic changes in DNA repair, splicing, transcription regulation and signaling.
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    • Efficacy of platinum-based chemotherapy in metastatic breast cancer and HRD biomarkers: utility of exome sequencing.
    • Galland L, Ballot E, Mananet H, Boidot R, Lecuelle J, Albuisson J, Arnould L, Desmoulins I, Mayeur D, Kaderbhai C, Ilie S, Hennequin A, Bergeron A, Derangère V, Ghiringhelli F, Truntzer C, Ladoire S.
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    • Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes.
    • Breast Cancer Association Consortium, Mavaddat N, Dorling L, Carvalho S, Allen J, González-Neira A, Keeman R, Bolla MK, Dennis J, Wang Q, Ahearn TU, Andrulis IL, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Blomqvist C, Bogdanova NV, Bojesen SE, Briceno I, Brüning T, Camp NJ, Campbell A, Castelao JE, Chang-Claude J, Chanock SJ, Chenevix-Trench G, Christiansen H, Czene K, Dörk T, Eriksson M, Evans DG, Fasching PA, Figueroa JD, Flyger H, Gabrielson M, Gago-Dominguez M, Geisler J, Giles GG, Guénel P, Hadjisavvas A, Hahnen E, Hall P, Hamann U, Hartikainen JM, Hartman M, Hoppe R, Howell A, Jakubowska A, Jung A, Khusnutdinova EK, Kristensen VN, Li J, Lim SH, Lindblom A, Loizidou MA, Lophatananon A, Lubinski J, Madsen MJ, Mannermaa A, Manoochehri M, Margolin S, Mavroudis D, Milne RL, Mohd Taib NA, Morra A, Muir K, Obi N, Osorio A, Park-Simon TW, Peterlongo P, Radice P, Saloustros E, Sawyer EJ, Schmutzler RK, Shah M, Sim X, Southey MC, Thorne H, Tomlinson I, Torres D, Truong T, Yip CH, Spurdle AB, Vreeswijk MPG, Dunning AM, García-Closas M, Pharoah PDP, Kvist A, Muranen TA, Nevanlinna H, Teo SH, Devilee P, Schmidt MK, Easton DF.
    • JAMA Oncol. 2022 Mar 1;8(3):e216744. doi: 10.1001/jamaoncol.2021.6744. Epub 2022 Mar 17.

    Press: Breast Tumor Features Reflecting Germline Variants May Improve Risk Prediction Models. (Precision Oncology News)

    Research news: Variants of Nine Breast Cancer Genes Associated With Severe Disease. (Medscape)

    • Single-cell analysis of somatic mutation burden in mammary epithelial cells of pathogenic BRCA1/2 mutation carriers.
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    • J Clin Invest. 2022 Mar 1;132(5):e148113. doi: 10.1172/JCI148113.
    • Predictive and prognostic significance of BRCAness in HER2-negative breast cancer.
    • Sueta A, Yamamoto-Ibusuki M, Tomiguchi M, Fujiki Y, Goto-Yamaguchi L, Iwase H, Yamamoto Y.
    • Breast Cancer. 2022 Mar;29(2):368-376. doi: 10.1007/s12282-021-01319-9. Epub 2022 Jan 5.
    • Clinical outcomes and Oncotype DX Breast Recurrence Score® in early-stage BRCA-associated hormone receptor-positive breast cancer.
    • Layman RM, Lin H, Gutierrez Barrera AM, Karuturi MS, Yam C, Arun BK.
    • Cancer Med. 2022 Mar;11(6):1474-1483. doi: 10.1002/cam4.4566. Epub 2022 Feb 6.
    • Next-generation sequencing of endoscopically obtained tissues from patients with all stages of pancreatic cancer.
    • Takano S, Fukasawa M, Shindo H, Takahashi E, Fukasawa Y, Kawakami S, Hayakawa H, Kuratomi N, Kadokura M, Yamaguchi T, Inoue T, Maekawa S, Enomoto N.
    • Cancer Sci. 2022 Mar;113(3):1069-1077. doi: 10.1111/cas.15249. Epub 2022 Jan 10.
    • Molecular analysis of endometrial serous carcinoma reveals distinct clinicopathologic and genomic subgroups.
    • Lin DI, Fine A, Danziger NA, Huang RSP, Mata DA, Decker B, Killian JK, Ramkissoon SH, Lechpammer M, Janovitz T, Ross JS, Sokol ES, Elvin JA.
    • Gynecol Oncol. 2022 Mar;164(3):558-565. doi: 10.1016/j.ygyno.2021.12.030. Epub 2022 Jan 5.
    • Computerized morphometry analysis of epithelial fimbriae nuclear symmetry in BRCA carriers may identify patients at risk for developing ovarian cancer.
    • Amit A, Sabo E, Petruseva A, Stroller L, Reiss A, Klorin G.
    • Microsc Res Tech. 2022 Mar;85(3):892-899. doi: 10.1002/jemt.23958. Epub 2021 Oct 9.
    • DNA-repair status should be assessed in treatment-emergent neuroendocrine prostate cancer before platinum-based therapy.
    • Zhu S, Zhang Z, Zhang H, Liu Z, Liu M, Liu Q, Zang L, Wang L, Ji J, Wu B, Sun L, Zhang Z, Cao H, Wang Y, Wang H, Shang Z, Niu Y.
    • Prostate. 2022 Mar;82(4):464-474. doi: 10.1002/pros.24292. Epub 2022 Jan 17.
    • A New Landscape of Testing and Therapeutics in Metastatic Breast Cancer.
    • Jagannathan G, White MJ, Xian RR, Emens LA, Cimino-Mathews A.
    • Surg Pathol Clin. 2022 Mar;15(1):105-120. doi: 10.1016/j.path.2021.11.007. Epub 2022 Jan 31.
    • Review
    • Genomic Instability Is Defined by Specific Tumor Microenvironment in Ovarian Cancer: A Subgroup Analysis of AGO OVAR 12 Trial.
    • Fumet JD, Lardenois E, Ray-Coquard I, Harter P, Joly F, Canzler U, Truntzer C, Tredan O, Liebrich C, Lortholary A, Pissaloux D, Leary A, Pfisterer J, Eeckhoutte A, Hilpert F, Fabbro M, Caux C, Alexandre J, Houlier A, Sehouli J, Sohier E, Kimmig R, Dubois B, Spaeth D, Treilleux I, Frenel JS, Herwig U, Le Saux O, Bendriss-Vermare N, du Bois A.
    • Cancers (Basel). 2022 Feb 25;14(5):1189. doi: 10.3390/cancers14051189.
    • Clinical Benefit With PARP Inhibitor for Pathogenic Germline FANCA-Mutated Relapsed Epithelial Ovarian Cancer: A Case Report.
    • Qian B, Leng W, Yan Z, Lu J, Chen S, Yi H, Jiang Z.
    • Front Oncol. 2022 Feb 25;12:778545. doi: 10.3389/fonc.2022.778545.
    • Variants of Nine Breast Cancer Genes Associated With Severe Disease.
    • Worcester S.
    • Medscape. 2022 Feb 25.

    Original research:

    Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes.

    • PTEN alterations in sporadic and BRCA1-associated triple negative breast carcinomas.
    • Jones N, Gros A, Velasco V, Dapremont V, Brouste V, Gastaldello B, Debled M, de Lara CT, Bonnet F, Barouk-Simonet E, Bubien V, Venat L, MacGrogan G, Longy M, Sevenet N.
    • Cancer Genet. 2022 Feb 24. doi: 10.1016/j.cancergen.2022.02.008. Epub ahead of print.
    • Derivation, Comprehensive Analysis, and Assay Validation of a Pyroptosis-Related lncRNA Prognostic Signature in Patients With Ovarian Cancer.
    • Cao X, Zhang Q, Zhu Y, Huo X, Bao J, Su M.
    • Front Oncol. 2022 Feb 24;12:780950. doi: 10.3389/fonc.2022.780950.
    • Case Report Series: Aggressive HR Deficient Colorectal Cancers Related to BRCA1 Pathogenic Germline Variants.
    • Freire MV, Martin M, Thissen R, Van Marcke C, Segers K, Sépulchre E, Leroi N, Lété C, Fasquelle C, Radermacher J, Gokburun Y, Collignon J, Sacré A, Josse C, Palmeira L, Bours V.
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    • PARP Inhibitor Applicability: Detailed Assays for Homologous Recombination Repair Pathway Components.
    • O'Sullivan Coyne G, Karlovich C, Wilsker D, Voth AR, Parchment RE, Chen AP, Doroshow JH.
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    • Toward More Comprehensive Homologous Recombination Deficiency Assays in Ovarian Cancer, Part 1: Technical Considerations.
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    • Cancers (Basel). 2022 Feb 23;14(5):1132. doi: 10.3390/cancers14051132.
    • Toward More Comprehensive Homologous Recombination Deficiency Assays in Ovarian Cancer Part 2: Medical Perspectives.
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    Press: Methylation Signatures Within Cervical Cells Capture Ovarian, Breast Cancer Risk. (GenomeWeb)

    • The WID-BC-index identifies women with primary poor prognostic breast cancer based on DNA methylation in cervical samples.
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    Press: Methylation Signatures Within Cervical Cells Capture Ovarian, Breast Cancer Risk. (GenomeWeb)

    • Clinicopathological Significance of BRCAness in Resectable Pancreatic Ductal Adenocarcinoma and Its Association With Anticancer Drug Sensitivity in Pancreatic Cancer Cells.
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    • Pancreas. 2022 Feb 1;51(2):183-189. doi: 10.1097/MPA.0000000000001975.
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    • Proc Natl Acad Sci U S A. 2022 Feb 1;119(5):e2117754119. doi: 10.1073/pnas.2117754119.

    Commentary:

    Platinum-based chemotherapy inflames the ovarian carcinoma microenvironment through cellular senescence.

    • Clinicopathological features and BRCA1 and BRCA2 mutation status in a prospective cohort of young women with breast cancer.
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    • PTEN Loss and BRCA1 Promoter Hypermethylation Negatively Predict for Immunogenicity in BRCA-Deficient Ovarian Cancer.
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    Letter, Commentary:

    Homologous Recombination Deficiency in Pancreatic Cancer: Poly (ADP-ribose) Polymerase Inhibition, Checkpoint Inhibition, or a Combination of Both?

    Letter, Reply:

    Reply to F. Keane et al.

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    • Research news

    Original research:

    Cell-autonomous inflammation of BRCA1-deficient ovarian cancers drives both tumor-intrinsic immunoreactivity and immune resistance via STING.

    • CT imaging phenotypes linked to CA125 and HE4 biomarkers are highly predictive in discriminating between hereditary and sporadic ovarian cancer patients.
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    • Evidence for Diverse Prognosis in High-Grade Serous Ovarian Carcinoma: Solid, Pseudoendometrioid, and Transitional-Like; So-Called "SET Morphology" and Progesterone Receptor Status.
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    • Turk Patoloji Derg. 2022;38(3):240-250. English. doi: 10.5146/tjpath.2022.01571.
    • Human iPSC-derived fallopian tube organoids with BRCA1 mutation recapitulate early-stage carcinogenesis.
    • Yucer N, Ahdoot R, Workman MJ, Laperle AH, Recouvreux MS, Kurowski K, Naboulsi DJ, Liang V, Qu Y, Plummer JT, Gayther SA, Orsulic S, Karlan BY, Svendsen CN.
    • Cell Rep. 2021 Dec 28;37(13):110146. doi: 10.1016/j.celrep.2021.110146.

    Research news: Researchers Create Organoids that Model BRCA-Positive Ovarian Cancer. (Clinical OMICs)

    • BRCA2 Haploinsufficiency in Telomere Maintenance.
    • Gunnarsdottir SR, Bjarnason H, Thorvaldsdottir B, Paland F, Steinarsdottir M, Eyfjörd JE, Bödvarsdottir SK.
    • Genes (Basel). 2021 Dec 28;13(1):83. doi: 10.3390/genes13010083.
    • BRCA1 and Metastasis: Outcome of Defective DNA Repair.
    • Krishnan R, Patel PS, Hakem R.
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    • Gupta B, Somasundaram K.
    • Oncotarget. 2021 Dec 21;12(26):2541-2542. doi: 10.18632/oncotarget.28149.

    Original research:

    Opposing effects of BRCA1 mRNA expression on patient survival in breast and colorectal cancer and variations among African American, Asian, and younger patients.

    • Invasive Breast Carcinoma: Rare Clinical Presentation in a Male Patient.
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    • Front Oncol. 2021 Dec 16;11:772604. doi: 10.3389/fonc.2021.772604.
    • Frequency of Mismatch Repair Deficiency/High Microsatellite Instability and Its Role as a Predictive Biomarker of response to Immune Checkpoint Inhibitors in Gynecologic Cancers.
    • Noh JJ, Kim MK, Choi MC, Lee JW, Park H, Jung SG, Joo WD, Song SH, Lee C.
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    • Genomic attributes of homology-directed DNA repair deficiency in metastatic prostate cancer.
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    • JCI Insight. 2021 Dec 8;6(23):e152789. doi: 10.1172/jci.insight.152789.
    • Inference of tissue relative proportions of the breast epithelial cell types luminal progenitor, basal, and luminal mature.
    • Sci Rep. 2021 Dec 8;11(1):23702. doi: 10.1038/s41598-021-03161-7.
    • A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.
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    • Pancreas cancer and BRCA: A critical subset of patients with improving therapeutic outcomes.
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    Inferences of Mutational Status for Variants Detected From Tumor-Only Sequencing-A Quality Assurance Strategy.

    Letter, Reply:

    Reply to T. Ménard.

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    Commentary:

    ASO Author Reflections: High BRCA2 Gene Expression is Associated with Aggressive and Highly Proliferative Breast Cancer.

    Commentary:

    ASO Visual Abstract: High BRCA2 Gene Expression is Associated with Aggressive and Highly Proliferative Breast Cancer.

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    Original research:

    Mismatch Repair Deficiency and Microsatellite Instability in Triple-Negative Breast Cancer: A Retrospective Study of 440 Patients.

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    BRCA role changes with association: tissue-specific impact on the prognosis.

    •• Commentary:

    Redefining and expanding the sphere of influence of BRCA in breast and colorectal cancers and beyond.

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    • COVID-19 Vaccination Induced Lymphadenopathy in a Specialized Breast Imaging Clinic in Israel: Analysis of 163 cases.
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    Commentary:

    Managing the Risk of Delayed Breast Cancer Screening Versus COVID-19 Vaccination Associated Axillary Lymphadenopathy.

    • Ovarian Serous Carcinoma With a Novel HSP90AB1 Mutation in a Patient With Synchronous Primary Fallopian Tube Serous Carcinoma.
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    • Review
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    • Letter, Comment

    Review:

    Clinical Implications of Germline Testing in Newly Diagnosed Prostate Cancer.

    • MAPK4 silencing together with a PARP1 inhibitor as a combination therapy in triple-negative breast cancer cells.
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    • Differential Activity of PARP Inhibitors in BRCA1- Versus BRCA2-Altered Metastatic Castration-Resistant Prostate Cancer.
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    • Cell-autonomous inflammation of BRCA1-deficient ovarian cancers drives both tumor-intrinsic immunoreactivity and immune resistance via STING.
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    Research news:

    Multimodal immunostimulation to control BRCA1-defective ovarian carcinoma.

    • Prediction of BRCA Gene Mutation in Breast Cancer Based on Deep Learning and Histopathology Images.
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    • Classification of High-Grade Serous Ovarian Carcinoma by Epithelial-to-Mesenchymal Transition Signature and Homologous Recombination Repair Genes.
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    • Genes (Basel). 2021 Jul 20;12(7):1103. doi: 10.3390/genes12071103.
    • Germline and Somatic mutations in postmenopausal breast cancer patients.
    • Nagy TR, Maistro S, Encinas G, Katayama MLH, Pereira GFL, Gaburo-Júnior N, Franco LAM, Gouvêa ACRC, Diz MDPE, Leite LAS, Folgueira MAAK.
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    • Berkel C, Cacan E.
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    • The germline/somatic DNA damage repair gene mutations modulate the therapeutic response in Chinese patients with advanced pancreatic ductal adenocarcinoma.
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    • Review
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    • Letter, Commentary

    Original research:

    Association between breast cancer risk and disease aggressiveness: Characterizing underlying gene expression patterns.

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    Commentary:

    Commentary: Mismatch Repair Deficiency and Microsatellite Instability in Triple-Negative Breast Cancer: A Retrospective Study of 440 Patients.

    • Replication Gaps Underlie BRCA Deficiency and Therapy Response.
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    Commentary:

    Which Holds the Key to BRCAness: Inability to Repair the Break, Protect the Fork, or Prevent the Gap?

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    Letter, Commentary:

    Comments on "Association between breast cancer risk and disease aggressiveness: Characterizing underlying gene expression patterns".

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    Commentary, Review:

    Liquid Biopsy: It's the Bloody Truth!

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    • Letter
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    • Transcriptome Patterns of BRCA1- and BRCA2- Mutated Breast and Ovarian Cancers.
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    • Review
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    Editorial, Research review:

    Peripheral blood BRCA1 methylation profiling to predict familial ovarian cancer.

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    Comment, Letter:

    Comment on: BRCA1 Expression by Immunohistochemistry and Prognosis in Ovarian Cancer: A Systematic Review and Meta-Analysis.

    Reply, Letter:

    Author's Reply to Jia et al.: "BRCA1 Expression by Immunohistochemistry and Prognosis in Ovarian Cancer: A Systematic Review and Meta-Analysis".

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    RE: Mismatch repair protein loss in breast cancer: clinicopathological associations in a large British Columbia cohort.

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    Editorial:

    Journey's End: the quest for BRCA-like hereditary breast cancer genes is nearly over.

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    Editorial:

    Do increased tumor infiltrating lymphocytes co-existing with Homologous Recombination Deficiency provide clues to enhance immunotherapy of ovarian cancer?

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    Research news:

    Discussion: CRISPR/Cas9-Mediated BRCA1 Knockdown Adipose Stem Cells Promote Breast Cancer Progression.

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