• Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations.
    • Kim J, Jeong K, Jun H, Kim K, Bae JM, Song MG, Yi H, Park S, Woo GU, Lee DW, Kim TY, Lee KH, Im SA.
    • Hum Genomics. 2023 Jan 6;17(1):2. doi: 10.1186/s40246-022-00447-3.
    • Re: Andrea Loehr, Arif Hussain, Akash Patnaik, et al. Emergence of BRCA Reversion Mutations in Patients with Metastatic Castration-resistant Prostate Cancer After Treatment with Rucaparib. Eur Urol. In press. https://doi.org/10.1016/j.eururo.2022.09.010.
    • Qi F, Xu Z, Zou Q.
    • Eur Urol. 2023 Jan 3:S0302-2838(22)02873-1. doi: 10.1016/j.eururo.2022.12.024. Epub ahead of print.
    • Letter

    Related:

    •• Original research:

    Emergence of BRCA Reversion Mutations in Patients with Metastatic Castration-resistant Prostate Cancer After Treatment with Rucaparib.

    •• Reply:

    Reply to Feng Qi, Zicheng Xu, and Qing Zou's Letter to the Editor re: Andrea Loehr, Arif Hussain, Akash Patnaik, et al. Emergence of BRCA Reversion Mutations in Patients with Metastatic Castration-resistant Prostate Cancer After Treatment with Rucaparib. Eur Urol. In press. https://doi.org/10.1016/j.eururo.2022.09.010.

    • Circulating T-cell receptor diversity as predictive biomarker for PARP inhibitors maintenance therapy in high grade serous ovarian cancer.
    • Shu T, Zhou Z, Bai J, Xiao X, Gao M, Zhang N, Wang H, Xia X, Gao Y, Zheng H.
    • Gynecol Oncol. 2023 Jan;168:135-143. doi: 10.1016/j.ygyno.2022.11.013. Epub 2022 Nov 25.
    • Determination of BRCAness Phenotype in Breast Tumors for the Appointment of Neoadjuvant Chemotherapy Based on Platinum and Taxanes.
    • Mihajlovich Tsyganov MM, Ibragimova MK, Garbukov EY, Bragina OD, Karchevskaya AA, Usynin EA, Litvyakov NV.
    • Int J Mol Sci. 2022 Dec 22;24(1):207. doi: 10.3390/ijms24010207.
    • Deep learning identifies morphological patterns of homologous recombination deficiency in luminal breast cancers from whole slide images.
    • Lazard T, Bataillon G, Naylor P, Popova T, Bidard FC, Stoppa-Lyonnet D, Stern MH, Decencière E, Walter T, Vincent-Salomon A..
    • Cell Rep Med. 2022 Dec 20;3(12):100872. doi: 10.1016/j.xcrm.2022.100872. Epub 2022 Dec 13.

    Related:

    •• Commentary:

    HRD-related morphology discovery in breast cancer by controlling for confounding factors.

    • Concordance between single-nucleotide polymorphism-based genomic instability assays and a next-generation sequencing-based homologous recombination deficiency test.
    • Cristescu R, Liu XQ, Arreaza G, Chen C, Albright A, Qiu P, Marton MJ.
    • BMC Cancer. 2022 Dec 14;22(1):1310. doi: 10.1186/s12885-022-10197-z.
    • BRCA1/2 Reversion Mutations in Patients Treated with Poly ADP-Ribose Polymerase (PARP) Inhibitors or Platinum Agents.
    • Darabi S, Braxton DR, Xiu J, Carneiro BA, Swensen J, Antonarakis ES, Liu SV, McKay RR, Spetzler D, El-Deiry WS, Demeure MJ.
    • Medicina (Kaunas). 2022 Dec 10;58(12):1818. doi: 10.3390/medicina58121818.
    • Details Emerge About Why Cancers Caused by BRCA Mutations Recur.
    • [No author given]
    • Inside Precision Medicine. Topics. Oncology. 2022 Nov 16.

    Related:

    •• Original research:

    Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

    • Study Suggests a PARP Inhibitors Has Wider Cancer Applications.
    • [No author given]
    • Inside Precision Medicine. Topics. Oncology. 2022 Nov 9.

    Related:

    •• Original research:

    A phase II study of talazoparib monotherapy in patients with wild-type BRCA1 and BRCA2 with a mutation in other homologous recombination genes.

    • Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
    • Shah JB, Pueschl D, Wubbenhorst B, Fan M, Pluta J, D'Andrea K, Hubert AP, Shilan JS, Zhou W, Kraya AA, Llop Guevara A, Ruan C, Serra V, Balmaña J, Feldman M, Morin PJ, Nayak A, Maxwell KN, Domchek SM, Nathanson KL.
    • Nat Commun. 2022 Nov 7;13(1):6728. doi: 10.1038/s41467-022-34523-y.

    Related:

    •• Research news: Details Emerge About Why Cancers Caused by BRCA Mutations Recur. (Inside Precision Medicine)

    • Laboratory Cross-Comparison and Ring Test Trial for Tumor BRCA Testing in a Multicenter Epithelial Ovarian Cancer Series: The BORNEO GEICO 60-0 Study.
    • Garcia-Casado Z, Oaknin A, Mendiola M, Alkorta-Aranburu G, Antunez-Lopez JR, Moreno-Bueno G, Palacios J, Yubero A, Marquez R, Gallego A, Sanchez-Heras AB, Lopez-Guerrero JA, Perez-Segura C, Barretina-Ginesta P, Alarcon J, Gaba L, Marquez A, Matito J, Cueva J, Palacio I, Iglesias M, Arcusa A, Sanchez-Lorenzo L, Guerra-Alia E, Romero I, Vivancos A.
    • J Pers Med. 2022 Nov 4;12(11):1842. doi: 10.3390/jpm12111842.
    • 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 Nov;127(8):1479-1486. doi: 10.1038/s41416-022-01897-1. Epub 2022 Jul 22.

    Related:

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

    • 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.
    • 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.)

    •• Research news: Cediranib Plus Olaparib Elicits rPFS Benefit in Metastatic Castration-Resistant Prostate Cancer. (OncLive)

    • Clinical decisions by the molecular tumor board on comprehensive genomic profiling tests in Japan: A retrospective observational study.
    • Shirota H, Komine K, Takahashi M, Takahashi S, Miyauchi E, Niizuma H, Tada H, Shimada M, Niihori T, Aoki Y, Sugiyama I, Kawamura M, Yasuda J, Suzuki S, Iwaya T, Saito M, Saito T, Shibata H, Furukawa T, Ishioka C.
    • Cancer Med. 2022 Oct 17. doi: 10.1002/cam4.5349. Epub ahead of print.
    • Emergence of BRCA Reversion Mutations in Patients with Metastatic Castration-resistant Prostate Cancer After Treatment with Rucaparib.
    • Loehr A, Hussain A, Patnaik A, Bryce AH, Castellano D, Font A, Shapiro J, Zhang J, Sautois B, Vogelzang NJ, Chatta G, Courtney K, Harzstark A, Ricci F, Despain D, Watkins S, King C, Nguyen M, Simmons AD, Chowdhury S, Abida W.
    • Eur Urol. 2022 Oct 12:S0302-2838(22)02639-2. doi: 10.1016/j.eururo.2022.09.010. Epub ahead of print.

    Related:

    •• Commentary:

    BRCA Reversion Mutations in Metastatic Castration-Resistant Prostate Cancer.

    •• Letter:

    Re: Andrea Loehr, Arif Hussain, Akash Patnaik, et al. Emergence of BRCA Reversion Mutations in Patients with Metastatic Castration-resistant Prostate Cancer After Treatment with Rucaparib. Eur Urol. In press. https://doi.org/10.1016/j.eururo.2022.09.010.

    •• Reply:

    Reply to Feng Qi, Zicheng Xu, and Qing Zou's Letter to the Editor re: Andrea Loehr, Arif Hussain, Akash Patnaik, et al. Emergence of BRCA Reversion Mutations in Patients with Metastatic Castration-resistant Prostate Cancer After Treatment with Rucaparib. Eur Urol. In press. https://doi.org/10.1016/j.eururo.2022.09.010.

    • Somatic genomic landscape of East Asian epithelial ovarian carcinoma and its clinical implications from prospective clinical sequencing; A Korean Gynecologic Oncology Group study (KGOG 3047).
    • Sa JK, Kim J, Kang S, Kim SW, Song T, Shim SH, Choi MC, No JH, Song JY, Kim D, Kim YM, Kim JH, Lee JW.
    • Int J Cancer. 2022 Oct 1;151(7):1086-1097. doi: 10.1002/ijc.34150. Epub 2022 Jun 27.
    • 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;3(10):1181-1191. doi: 10.1038/s43018-022-00439-1. Epub 2022 Oct 17.

    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.)

    •• Research news: Study Suggests a PARP Inhibitors Has Wider Cancer Applications. (Inside Precision Medicine)

    • Methylation Analyses Reveal Promoter Hypermethylation as a Rare Cause of "Second Hit" in Germline BRCA1-Associated Pancreatic Ductal Adenocarcinoma.
    • Zheng-Lin B, Rainone M, Varghese AM, Yu KH, Park W, Berger M, Mehine M, Chou J, Capanu M, Mandelker D, Stadler ZK, Birsoy O, Jairam S, Yang C, Li Y, Wong D, Benhamida JK, Ladanyi M, Zhang L, O'Reilly EM.
    • Mol Diagn Ther. 2022 Sep 30. doi: 10.1007/s40291-022-00614-1. Epub ahead of print.
    • What’s beyond BRCA Mutational Status in High Grade Serous Ovarian Cancer? The Impact of Hormone Receptor Expression in a Large BRCA-Profiled Ovarian Cancer Patient Series: A Retrospective Cohort Study.
    • Perrone E, Tudisco R, Pafundi PC, Guido D, Ciucci A, Martinelli E, Zannoni GF, Piermattei A, Spadola S, Ferrante G, Marchetti C, Scambia G, Fagotti A, Gallo D.
    • Cancers (Basel). 2022 Sep 22;14(19):4588. doi: 10.3390/cancers14194588.
    • Corrected Allele Frequency of BRCA1/2 Mutations Is an Independent Prognostic Factor for Treatment Response to PARP-Inhibitors in Ovarian Cancer Patients.
    • Grech CT, Pils D, Aust S, Grimm C, Polterauer S, Reinthaller A, Müllauer L, Reischer T, Bekos C.
    • J Pers Med. 2022 Sep 7;12(9):1467. doi: 10.3390/jpm12091467.
    • Olaparib treatment for platinum-sensitive relapsed ovarian cancer by BRCA mutation and homologous recombination deficiency status: Phase II LIGHT study primary analysis.
    • Cadoo K, Simpkins F, Mathews C, Liu YL, Provencher D, McCormick C, ElNaggar AC, Altman AD, Gilbert L, Black D, Kabil N, Bennett J, Munley J, Aghajanian C.
    • Gynecol Oncol. 2022 Sep;166(3):425-431. doi: 10.1016/j.ygyno.2022.06.017. Epub 2022 Jul 5.

    Related:

    Identifier: NCT02983799: Olaparib Tablets as a Treatment for Ovarian Cancer Subjects With Different HRD Tumor Status. (ClinicalTrials.gov)

    • Homologous Recombination Deficiency Scar: Mutations and Beyond—Implications for Precision Oncology.
    • van der Wiel AMA, Schuitmaker L, Cong Y, Theys J, Van Hoeck A, Vens C, Lambin P, Yaromina A, Dubois LJ.
    • Cancers (Basel). 2022 Aug 27;14(17):4157. doi: 10.3390/cancers14174157.
    • Active Surveillance in Intermediate-Risk Prostate Cancer: A Review of the Current Data.
    • Blas L, Shiota M, Eto M.
    • Cancers (Basel). 2022 Aug 27;14(17):4161. doi: 10.3390/cancers14174161.
    • Moving the Needle on Precision Medicine in Pancreatic Cancer.
    • O'Kane GM, Lowery MA.
    • J Clin Oncol. 2022 Aug 20;40(24):2693-2705. doi: 10.1200/JCO.21.02514. Epub 2022 Jul 15.
    • Review
    • Japanese nationwide observational multicenter study of tumor BRCA1/2 variant testing in advanced ovarian cancer.
    • Oda K, Aoki D, Tsuda H, Nishihara H, Aoyama H, Inomata H, Shimada M, Enomoto T.
    • Cancer Sci. 2022 Aug 17. doi: 10.1111/cas.15518. Epub ahead of print.
    • Multiomic Characterization of High-Grade Serous Ovarian Carcinoma Enables High-Resolution Patient Stratification.
    • Hollis RL, Meynert AM, Michie CO, Rye T, Churchman M, Hallas-Potts A, Croy I, McCluggage WG, Williams ARW, Bartos C, Iida Y, Okamoto A, Dougherty B, Barrett JC, March R, Matakidou A, Roxburgh P, Semple CA, Harkin DP, Kennedy R, Herrington CS, Gourley C.
    • Clin Cancer Res. 2022 Aug 15;28(16):3546-3556. doi: 10.1158/1078-0432.CCR-22-0368.
    • What Plasma Can Tell Us When Tissue Cannot: A Case Report of Genomic Testing in mCRPC and Clinical Response to Treatment With the PARP Inhibitor Rucaparib.
    • Petrylak DP, Watkins SP, Loehr A.
    • Front Oncol. 2022 Aug 1;12:951348. doi: 10.3389/fonc.2022.951348.
    • A commentary on the discrepancy between blood and tumour BRCA testing: An open question.
    • De Paolis E, Marchetti C, Concolino P, Scambia G, Urbani A, Fagotti A, Minucci A.
    • BJOG. 2022 Aug;129(9):1422-1426. doi: 10.1111/1471-0528.17158. Epub 2022 Apr 5.

    Related:

    Commentary:

    Gene sequencing in ovarian cancer: continually moving targets.

    • Fibroblast testing can inform medical management in individuals with mosaic variants detected on hereditary cancer panels.
    • Sutcliffe EG, Mester JL, Susswein LR, Roberts ME, Marshall ML, Hruska KS.
    • Cancer Genet. 2022 Aug;266-267:86-89. doi: 10.1016/j.cancergen.2022.07.004. Epub 2022 Jul 28.
    • Mutation profiles in circulating cell-free DNA predict acquired resistance to Olaparib in high-grade serous ovarian carcinoma.
    • Hu D, Guo E, Yang B, Qin X, Fu Y, Fan J, Zhuang X, Yao Q, Lu F, Li W, Xiao R, Wu X, Yang X, Wang Z, Liu C, You L, Zang R, Zhou Q, Zhao W, Chen G, Sun C.
    • Cancer Sci. 2022 Aug;113(8):2849-2861. doi: 10.1111/cas.15456. Epub 2022 Jun 26.
    • Views of Israeli healthcare professionals regarding communication of genetic variants of uncertain significance to patients.
    • Levin Fridman A, Raz A, Timmermans S, Shkedi-Rafid S.
    • J Genet Couns. 2022 Aug;31(4):912-921. doi: 10.1002/jgc4.1560. Epub 2022 Feb 4.
    • Practice guidelines for BRCA1/2 tumour testing in ovarian cancer.
    • Grafodatskaya D, O'Rielly DD, Bedard K, Butcher DT, Howlett CJ, Lytwyn A, McCready E, Parboosingh J, Spriggs EL, Vaags AK, Stockley TL.
    • J Med Genet. 2022 Aug;59(8):727-736. doi: 10.1136/jmedgenet-2021-108238. Epub 2022 Apr 7.
    • Targeted Mutational Analysis of Circulating Tumor DNA to Decipher Temporal Heterogeneity of High-Grade Serous Ovarian Cancer.
    • Paracchini L, Mannarino L, Beltrame L, Landoni F, Fruscio R, Grassi T, Dalessandro ML, D'Incalci M, Marchini S.
    • Cancers (Basel). 2022 Jul 29;14(15):3697. doi: 10.3390/cancers14153697.
    • Multi-Gene Mutation Profiling by Targeted Next-Generation Sequencing in Premenopausal Breast Cancer.
    • Zografos E, Andrikopoulou A, Papatheodoridi AM, Kaparelou M, Bletsa G, Liontos M, Dimopoulos MA, Zagouri F.
    • Genes (Basel). 2022 Jul 29;13(8):1362. doi: 10.3390/genes13081362.
    • Maintenance therapy for newly diagnosed epithelial ovarian cancer- a review.
    • Nag S, Aggarwal S, Rauthan A, Warrier N.
    • J Ovarian Res. 2022 Jul 28;15(1):88. doi: 10.1186/s13048-022-01020-1.
    • CA-125 KELIM as a Potential Complementary Tool for Predicting Veliparib Benefit: An Exploratory Analysis From the VELIA/GOG-3005 Study.
    • You B, Sehgal V, Hosmane B, Huang X, Ansell PJ, Dinh MH, Bell-McGuinn K, Luo X, Fleming GF, Friedlander M, Bookman MA, Moore KN, Steffensen KD, Coleman RL, Swisher EM.
    • J Clin Oncol. 2022 Jul 22:JCO2200430. doi: 10.1200/JCO.22.00430. Epub ahead of print.
    • 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.
    • 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

    Related:

    Original research:

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

    • 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.
    • Biomarker-guided targeted therapy in platinum-resistant ovarian cancer (AMBITION; KGOG 3045): a multicentre, open-label, five-arm, uncontrolled, umbrella trial.
    • Lee JY, Kim BG, Kim JW, Lee JB, Park E, Joung JG, Kim S, Choi CH, Kim HS; Korean Gynecologic Oncology Group (KGOG) investigators.
    • J Gynecol Oncol. 2022 Jul;33(4):e45. doi: 10.3802/jgo.2022.33.e45. Epub 2022 Mar 4.

    Related:

    Identifier: NCT03699449: An uMbrella Study of BIomarker-driven Targeted Therapy In Patients With Platinum-resistant Recurrent OvariaN Cancer(AMBITION). (ClinicalTrials.gov)

    Commentary:

    A step towards the ambition of precision oncology in recurrent ovarian cancer.

    • Breast Cancer with Low Recurrence Score on Oncotype DX©: Interplay Between Early Recurrence, Lobular Histology and BRCA Mutation.
    • Zarbiv Y, Wygoda YB, Grinshpun A, Hamburger T, Sella T, Breuer S, Maimon O, Rottenberg Y, Peretz T, Kadouri L.
    • Oncol Ther. 2022 Jun 25. doi: 10.1007/s40487-022-00202-7. Epub ahead of print.
    • 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.
    • A Pan-Canadian Consensus Statement on First-Line PARP Inhibitor Maintenance for Advanced, High-Grade Serous and Endometrioid Tubal, Ovarian, and Primary Peritoneal Cancers.
    • Tinker AV, Altman AD, Bernardini MQ, Ghatage P, Gien LT, Provencher D, Salvador S, Doucette S, Oza AM.
    • Curr Oncol. 2022 Jun 17;29(6):4354-4369. doi: 10.3390/curroncol29060348.
    • Pilot Study: PARP1 Imaging in Advanced Prostate Cancer.
    • Dehdashti F, Reimers MA, Shoghi KI, Chen DL, Luo J, Rogers B, Pachynski RK, Sreekumar S, Weimholt C, Zhou D.
    • Mol Imaging Biol. 2022 Jun 14. doi: 10.1007/s11307-022-01746-w. Epub ahead of print.
    • 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.
    • NPJ Precis Oncol. 2022 Jun 9;6(1):36. doi: 10.1038/s41698-022-00276-6.
    • Yondelis Fails to Improve Survival in BRCA1/2-Mutant Ovarian Cancer in Phase III ASCO Study.
    • Kanski A.
    • Precision Oncology News. Biomarkers. BRCA. 2022 Jun 9.

    Related:

    Identifier: NCT02903004: Trial on Trabectedin (ET-743) vs Clinician's Choice Chemotherapy in Recurrent Ovarian, Primary Peritoneal or Fallopian Tube Cancers of BRCA Mutated or BRCAness Phenotype Patients (MITO23). (ClinicalTrials.gov)

    • Leptomeningeal disease in BRIP1-mutated pancreatic adenocarcinoma.
    • Yim E, Leung D.
    • BMJ Case Rep. 2022 Jun 8;15(6):e249837. doi: 10.1136/bcr-2022-249837.
    • Case report
    • 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.
    • Identification and Management of Pathogenic Variants in BRCA1, BRCA2, and PALB2 in a Tumor-Only Genomic Testing Program.
    • Bychkovsky BL, Li T, Sotelo J, Tayob N, Mercado J, Gomy I, Chittenden A, Kane S, Stokes S, Hughes ME, Kim JS, Umeton R, Awad MM, Konstantinopoulos PA, Yurgelun MB, Wolpin BM, Taplin ME, Newmark RE, Johnson BE, Lindeman NI, MacConaill LE, Garber JE, Lin NU.
    • Clin Cancer Res. 2022 Jun 1;28(11):2349-2360. doi: 10.1158/1078-0432.CCR-21-2861.
    • Homologous recombination repair deficiency (HRD) testing in newly diagnosed advanced-stage epithelial ovarian cancer: A Belgian expert opinion.
    • Vergote I, Denys H, Altintas S, Kerger J, Baurain JF, Bours V, Henry S, Van de Vijver K, Lambrechts D, Gennigens C.
    • Facts Views Vis Obgyn. 2022 Jun;14(2):111-120. doi: 10.52054/FVVO.14.2.024.
    • 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.

    Related:

    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.

    Related:

    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.

    • Evolution in adjuvant treatment of ovarian carcinoma [Évolution des traitements adjuvants des cancers de l'ovaire].
    • Pautier P.
    • Rev Prat. 2022 Jun;72(6):633-637. French.
    • Homologous Recombination Deficiency and Ovarian Cancer Treatment Decisions: Practical Implications for Pathologists for Tumor Typing and Reporting.
    • Rabban JT, Chen LM, Devine WP.
    • Surg Pathol Clin. 2022 Jun;15(2):219-234. doi: 10.1016/j.path.2022.02.003. Epub 2022 May 18.
    • Review
    • Validation of genomic and transcriptomic models of homologous recombination deficiency in a real-world pan-cancer cohort.
    • Leibowitz BD, Dougherty BV, Bell JSK, Kapilivsky J, Michuda J, Sedgewick AJ, Munson WA, Chandra TA, Dry JR, Beaubier N, Igartua C, Taxter T.
    • BMC Cancer. 2022 May 28;22(1):587. doi: 10.1186/s12885-022-09669-z.
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    Related:

    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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    Related:

    Review:

    Clinical Implications of Germline Testing in Newly Diagnosed Prostate Cancer.

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    Commentary:

    Answers Are in the Blood: cfDNA to Enhance Precision Medicine for Breast Cancer.

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    • Precision Medicine in Oncology: A Review of Multi-Tumor Actionable Molecular Targets with an Emphasis on Non-Small Cell Lung Cancer.
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    • Increased Radiosensitivity of Solid Tumors Harboring ATM and BRCA1/2 Mutations.
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    • Review
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    • Mutational spectrum in clinically aggressive low-grade serous carcinoma/serous borderline tumors of the ovary-Clinical significance of BRCA2 gene variants in genomically stable tumors.
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    • Motivations and barriers to pursue cancer genomic testing: A systematic review.
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    • Review
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    • OHSU to Expand Tumor Board Program After Seeing Benefits in Breast Cancer Patients.
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    • BRCA Genetic Test and Risk-Reducing Salpingo-Oophorectomy for Hereditary Breast and Ovarian Cancer: State-of-the-Art.
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    • Perthera, Side-Out Foundation Partner to Advance Precision Oncology in Breast Cancer.
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    • A Case-Based Clinical Approach to the Investigation, Management and Screening of Families with BRCA2 Related Prostate Cancer.
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    • A Novel Three-Gene Score as a Predictive Biomarker for Pathologically Complete Response after Neoadjuvant Chemotherapy in Triple-Negative Breast Cancer.
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    • Heterogeneity and Clonal Evolution of Acquired PARP Inhibitor Resistance in TP53- and BRCA1-Deficient Cells.
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    • The Potential Predictors in Chemotherapy Sensitivity.
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    • Adv Exp Med Biol. 2021 [First Online: 14 May 2021];1187:381-389. doi: 10.1007/978-981-32-9620-6_19.
    • Review, eBook chapter
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    • Use of Circulating Tumor DNA for the Clinical Management of Metastatic Castration-Resistant Prostate Cancer: A Multicenter, Real-World Study.
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    • The Combination of Single-Cell and Next-Generation Sequencing Can Reveal Mosaicism for BRCA2 Mutations and the Fine Molecular Details of Tumorigenesis.
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    • Plasma Protein Biomarkers Associated with Higher Ovarian Cancer Risk in BRCA1/2 Carriers.
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    • Homologous Recombination Repair Deficiency and Implications for Tumor Immunogenicity.
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    • Evaluation of BRCA1 and BRCA2 as Indicators of Response to Immune Checkpoint Inhibitors.
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    • [Germline and Somatic Mutations in Archived Breast Cancer Specimens of Different Subtypes].
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    • Weberpals JI, Pugh TJ, Marco-Casanova P, Goss GD, Andrews Wright N, Rath P, Torchia J, Fortuna A, Jones GN, Roudier MP, Bernard L, Lo B, Torti D, Leon A, Marsh K, Hodgson D, Duciaume M, Howat WJ, Lukashchuk N, Lazic SE, Whelan D, Sekhon HS.
    • Cancer Med. 2021 May;10(9):3045-3058. doi: 10.1002/cam4.3831. Epub 2021 Apr 3.
    • Aberrations of DNA repair pathways in prostate cancer: A cornerstone of precision oncology.
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    • Can TP53 variant negative be high-grade serous ovarian carcinoma? A case series.
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    • Gynecol Oncol Rep. 2021 Feb 12;36:100729. doi: 10.1016/j.gore.2021.100729. eCollection 2021 May.
    • The Quandary of DNA-Based Treatment Assessment in De Novo Metastatic Prostate Cancer in the Era of Precision Oncology.
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    • Preferences for and acceptability of receiving pharmacogenomic results by mail: A focus group study with a primarily African-American cohort.
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    • Age-related activity of Poly (ADP-ribose) polymerase (PARP) in men with localized prostate cancer.
    • Deniz M, Zengerling F, Gundelach T, Moreno-Villanueva M, Bürkle A, Janni W, Bolenz C, Kostezka S, Marienfeld R, Benckendorff J, Friedl TWP, Wiesmüller L, Rall-Scharpf M.
    • Mech Ageing Dev. 2021 Apr 19:111494. doi: 10.1016/j.mad.2021.111494. Epub ahead of print.
    • Role of next-generation genomic sequencing in targeted agents repositioning for pancreaticoduodenal cancer patients.
    • Melisi D, Cavaliere A, Gobbo S, Fasoli G, Allegrini V, Simionato F, Gaule M, Casalino S, Pesoni C, Zecchetto C, Merz V, Mambrini A, Barbi E, Girelli R, Giardino A, Frigerio I, Scalamogna R, Avitabile A, Castellani S, Milella M, Butturini G.
    • Pancreatology. 2021 Apr 19:S1424-3903(21)00143-5. doi: 10.1016/j.pan.2021.04.004. Epub ahead of print.
    • Germline and somatic mutation profile in Cancer patients revealed by a medium-sized pan-Cancer panel.
    • Li Z, Wang H, Zhang Z, Meng X, Liu D, Tang Y.
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    • Treatment Strategies for ARID1A-Deficient Ovarian Clear Cell Carcinoma.
    • Takahashi K, Takenaka M, Okamoto A, Bowtell DDL, Kohno T.
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    • Targeting Replicative Stress and DNA Repair by Combining PARP and Wee1 Kinase Inhibitors Is Synergistic in Triple Negative Breast Cancers with Cyclin E or BRCA1 Alteration.
    • Chen X, Yang D, Carey JPW, Karakas C, Albarracin C, Sahin AA, Arun BK, Guray Durak M, Li M, Kohansal M, Bui TN, Ha MJ, Hunt KK, Keyomarsi K.
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    • Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
    • Cobain EF, Wu YM, Vats P, Chugh R, Worden F, Smith DC, Schuetze SM, Zalupski MM, Sahai V, Alva A, Schott AF, Caram MEV, Hayes DF, Stoffel EM, Jacobs MF, Kumar-Sinha C, Cao X, Wang R, Lucas D, Ning Y, Rabban E, Bell J, Camelo-Piragua S, Udager AM, Cieslik M, Lonigro RJ, Kunju LP, Robinson DR, Talpaz M, Chinnaiyan AM.
    • JAMA Oncol. 2021 Apr 1;7(4):525-533. doi: 10.1001/jamaoncol.2020.7987.

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    Precision Medicine in Oncology-Toward the Integrated Targeting of Somatic and Germline Genomic Aberrations.

    Letter, Comment:

    Is Universal Next-Generation Sequencing Testing of Patients With Advanced Cancer Ready for Prime Time?

    Letter, Reply:

    Is Universal Next-Generation Sequencing Testing of Patients With Advanced Cancer Ready for Prime Time?-Reply.

    Press: Germline Testing: Variant in 1 in 6 Cases of Advanced Cancer. (Medscape Oncology)

    • Incorporating Genomic and Genetic Testing into the Treatment of Metastatic Luminal Breast Cancer.
    • Grill S, Klein E.
    • Breast Care (Basel). 2021 Apr;16(2):101-107. doi: 10.1159/000513800. Epub 2021 Jan 20.
    • Review
    • Somatic Mutation Profiling in the Liquid Biopsy and Clinical Analysis of Hereditary and Familial Pancreatic Cancer Cases Reveals KRAS Negativity and a Longer Overall Survival.
    • Earl J, Barreto E, Castillo ME, Fuentes R, Rodríguez-Garrote M, Ferreiro R, Reguera P, Muñoz G, Garcia-Seisdedos D, López JV, Sainz B Jr, Malats N, Carrato A.
    • Cancers (Basel). 2021 Mar 31;13(7):1612. doi: 10.3390/cancers13071612. Erratum in: Cancers (Basel). 2021 Jul 22;13(15):3687.
    • Landscape of somatic mutations in breast cancer: new opportunities for targeted therapies in Saudi Arabian patients.
    • Barakeh DH, Aljelaify R, Bashawri Y, Almutairi A, Alqubaishi F, Alnamnakani M, Almubarak L, Al Naeem A, Almushawah F, Alrashed M, Abedalthagafi M.
    • Oncotarget. 2021 Mar 30;12(7):686-697. doi: 10.18632/oncotarget.27909.
    • Intermountain Gets National Stage, Myriad Adds Tumor Profiling Panel With Combined Test Offering.
    • Ray T.
    • GenomeWeb. Business & Policy. Business News. 2021 Mar 24.
    • News
    • Prolonged response to treatment based on cell-free DNA analysis and molecular profiling in three patients with metastatic cancer: a case series.
    • Naqvi MF, Vo HH, Vining D, Tsimberidou AM.
    • Ther Adv Med Oncol. 2021 Mar 24;13:17588359211001538. doi: 10.1177/17588359211001538.
    • The Prognostic and Predictive Role of Somatic BRCA Mutations in Ovarian Cancer: Results from a Multicenter Cohort Study.
    • Toss A, Piombino C, Tenedini E, Bologna A, Gasparini E, Tarantino V, Filieri ME, Cottafavi L, Giovanardi F, Madrigali S, Civallero M, Marcheselli L, Marchi I, Domati F, Venturelli M, Barbieri E, Grandi G, Tagliafico E, Cortesi L.
    • Diagnostics (Basel). 2021 Mar 21;11(3):565. doi: 10.3390/diagnostics11030565.
    • Shaping the BRCAness mutational landscape by alternative double-strand break repair, replication stress and mitotic aberrancies.
    • Stok C, Kok YP, van den Tempel N, van Vugt MATM.
    • Nucleic Acids Res. 2021 Mar 21:gkab151. doi: 10.1093/nar/gkab151. Epub ahead of print.
    • Genomic, Transcriptomic, and Functional Alterations in DNA Damage Response Pathways as Putative Biomarkers of Chemotherapy Response in Ovarian Cancer.
    • Sharma Saha S, Gentles L, Bradbury A, Brecht D, Robinson R, O'Donnell R, Curtin NJ, Drew Y.
    • Cancers (Basel). 2021 Mar 20;13(6):1420. doi: 10.3390/cancers13061420.
    • The Clinical and Pathological Profile of BRCA1 Gene Methylated Breast Cancer Women: A Meta-Analysis.
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    • Cancers (Basel). 2021 Mar 19;13(6):1391. doi: 10.3390/cancers13061391.
    • Structural variants at the BRCA1/2 loci are a common source of homologous repair deficiency in high grade serous ovarian carcinoma.
    • Ewing A, Meynert A, Churchman M, Grimes G, Hollis RL, Herrington CS, Rye T, Bartos C, Croy I, Ferguson MJ, Lennie M, McGoldrick T, McPhail N, Siddiqui N, Dowson S, Glasspool R, Mackean M, Nussey F, McDade B, Ennis D, Genomes Partnership TS, McMahon L, Matakidou A, Dougherty BA, March R, Barrett JC, McNeish IA, Biankin AV, Roxburgh P, Gourley C, Semple CA.
    • Clin Cancer Res. 2021 Mar 19:clincanres.CCR-20-4068-A.2020. doi: 10.1158/1078-0432.CCR-20-4068. Epub ahead of print.
    • Tumour Versus Germline BRCA Testing in Ovarian Cancer: A Single-Site Institution Experience in the United Kingdom.
    • Akaev I, Rahimi S, Onifade O, Gardner FJE, Castells-Rufas D, Jones E, Acharige S, Yeoh CC.
    • Diagnostics (Basel). 2021 Mar 19;11(3):547. doi: 10.3390/diagnostics11030547.
    • The Role of Exosomes in Breast Cancer Diagnosis.
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    • Biomedicines. 2021 Mar 18;9(3):312. doi: 10.3390/biomedicines9030312.
    • Candidate Markers of Olaparib Response from Genomic Data Analyses of Human Cancer Cell Lines.
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    • Development of a Genomic Signatures-Based Predictor of Initial Platinum-Resistance in Advanced High-Grade Serous Ovarian Cancer Patients.
    • Li Y, Zhang X, Gao Y, Shang C, Yu B, Wang T, Su J, Huang C, Wu Y, Guo H, Ha C.
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    • Myriad Genetics, Intermountain Healthcare Collaborate for Cancer Testing Service.
    • [No author given]
    • GenomeWeb. Business & Policy. Business News. 2021 Mar 2.
    • Personalizing Medicine With Germline and Somatic Sequencing in Advanced Pancreatic Cancer: Current Treatments and Novel Opportunities.
    • Lee MS, Pant S.
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    • Germline and tumor BRCA1/2 mutations in Chinese high grade serous ovarian cancer patients.
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    • Ann Transl Med. 2021 Mar;9(6):453. doi: 10.21037/atm-20-6827.
    • Homologous recombination repair gene mutations show no survival benefits in Chinese high-grade serous ovarian cancer patients.
    • Feng Z, Wen H, Ju X, Bi R, Chen X, Yang W, Wu X.
    • Ann Transl Med. 2021 Mar;9(5):364. doi: 10.21037/atm-20-5136.
    • Characterizing TP53 mutations in ovarian carcinomas with and without concurrent BRCA1 or BRCA2 mutations.
    • Ghezelayagh TS, Pennington KP, Norquist BM, Khasnavis N, Radke MR, Kilgore MR, Garcia RL, Lee M, Katz R, Leslie KK, Risques RA, Swisher EM.
    • Gynecol Oncol. 2021 Mar;160(3):786-792. doi: 10.1016/j.ygyno.2020.12.007. Epub 2020 Dec 26.
    • Genomic mutation profiling using liquid biopsy in Korean patients with prostate cancer: Circulating tumor DNA mutation predicts the development of castration resistance.
    • Yu J, Cho E, Choi J, Lim JE, Lee J, Kang M, Sung HH, Jeong BC, Seo SI, Jeon SS, Lee HM, Jeon HG.
    • Investig Clin Urol. 2021 Mar;62(2):224-232. doi: 10.4111/icu.20200406.
    • Ovarian cancer risk score predicts chemo-response and outcome in epithelial ovarian carcinoma patients.
    • Lu HY, Tai YJ, Chen YL, Chiang YC, Hsu HC, Cheng WF.
    • J Gynecol Oncol. 2021 Mar;32(2):e18. doi: 10.3802/jgo.2021.32.e18. Epub 2020 Dec 3.
    • The BRCA1 c.788G > T (NM_007294.4) variant in a high grade serous ovarian cancer (HGSOC) patient: foods for thought.
    • De Paolis E, Pietragalla A, De Bonis M, Fagotti A, Urbani A, Scambia G, Minucci A.
    • Mol Biol Rep. 2021 Mar;48(3):2985-2992. doi: 10.1007/s11033-021-06243-x. Epub 2021 Mar 3.
    • Case report
    • Loss of BRCA1 expression and morphological features associated with BRCA1 promoter methylation status in triple-negative breast cancer.
    • Morizono A, Tanabe M, Ikemura M, Sasaki T, Ushiku T, Seto Y.
    • J Hum Genet. 2021 Feb 27. doi: 10.1038/s10038-021-00911-3. Epub ahead of print.
    • Comprehensive molecular profiling of Taiwanese breast cancers revealed potential therapeutic targets: prevalence of actionable mutations among 380 targeted sequencing analyses.
    • Huang CC, Tsai YF, Liu CY, Chao TC, Lien PJ, Lin YS, Feng CJ, Chiu JH, Hsu CY, Tseng LM.
    • BMC Cancer. 2021 Feb 25;21(1):199. doi: 10.1186/s12885-021-07931-4.
    • Modification of Homologous Recombination Deficiency Score Threshold and Association with Long-Term Survival in Epithelial Ovarian Cancer.
    • How JA, Jazaeri AA, Fellman B, Daniels MS, Penn S, Solimeno C, Yuan Y, Schmeler K, Lanchbury JS, Timms K, Lu KH, Yates MS.
    • Cancers (Basel). 2021 Feb 24;13(5):946. doi: 10.3390/cancers13050946.
    • Treatment-emergent neuroendocrine prostate cancer with a germline BRCA2 mutation: identification of a candidate reversion mutation associated with platinum/PARP-inhibitor resistance.
    • Pandya D, Shah M, Kaplan F, Martino C, Levy G, Kazanjian M, Batter S, Martignetti J, Frank RC.
    • Cold Spring Harb Mol Case Stud. 2021 Feb 19;7(1):a005801. doi: 10.1101/mcs.a005801.
    • BECN1 and BRCA1 Deficiency Sensitizes Ovarian Cancer to Platinum Therapy and Confers Better Prognosis.
    • Salwa A, Ferraresi A, Chinthakindi M, Vallino L, Vidoni C, Dhanasekaran DN, Isidoro C.
    • Biomedicines. 2021 Feb 18;9(2):207. doi: 10.3390/biomedicines9020207.
    • Efficacy of PARP inhibition combined with EZH2 inhibition depends on BRCA mutation status and microenvironment in breast cancer.
    • Chen MK.
    • FEBS J. 2021 Feb 11. doi: 10.1111/febs.15730. Epub ahead of print.
    • Commentary
    • Molecular analyses of triple-negative breast cancer in the young and elderly.
    • Aine M, Boyaci C, Hartman J, Häkkinen J, Mitra S, Campos AB, Nimeus E, Ehinger A, Vallon-Christersson J, Borg Å, Staaf J.
    • Breast Cancer Res. 2021 Feb 10;23(1):20. doi: 10.1186/s13058-021-01392-0.
    • Genomic Analysis of Circulating Tumor DNA in 3,334 Patients with Advanced Prostate Cancer Identifies Targetable BRCA Alterations and AR Resistance Mechanisms.
    • Tukachinsky H, Madison RW, Chung JH, Gjoerup OV, Severson EA, Dennis L, Fendler BJ, Morley S, Zhong L, Graf RP, Ross JS, Alexander BM, Abida W, Chowdhury S, Ryan CJ, Fizazi K, Golsorkhi T, Watkins SP, Simmons A, Loehr A, Venstrom JM, Oxnard GR.
    • Clin Cancer Res. 2021 Feb 8. doi: 10.1158/1078-0432.CCR-20-4805. Epub ahead of print.

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    Commentary, Review:

    Liquid Biopsy: It's the Bloody Truth!

    • Clinical practice guidelines for BRCA1 and BRCA2 genetic testing.
    • Pujol P, Barberis M, Beer P, Friedman E, Piulats JM, Capoluongo ED, Garcia Foncillas J, Ray-Coquard I, Penault-Llorca F, Foulkes WD, Turnbull C, Hanson H, Narod S, Arun BK, Aapro MS, Mandel JL, Normanno N, Lambrechts D, Vergote I, Anahory M, Baertschi B, Baudry K, Bignon YJ, Bollet M, Corsini C, Cussenot O, De la Motte Rouge T, Duboys de Labarre M, Duchamp F, Duriez C, Fizazi K, Galibert V, Gladieff L, Gligorov J, Hammel P, Imbert-Bouteille M, Jacot W, Kogut-Kubiak T, Lamy PJ, Nambot S, Neuzillet Y, Olschwang S, Rebillard X, Rey JM, Rideau C, Spano JP, Thomas F, Treilleux I, Vandromme M, Vendrell J, Vintraud M, Zarca D, Hughes KS, Alés Martínez JE.
    • Eur J Cancer. 2021 Feb 9;146:30-47. doi: 10.1016/j.ejca.2020.12.023. Epub ahead of print.
    • DNA damage response inhibitors: An avenue for TNBC treatment.
    • Jin J, Tao Z, Cao J, Li T, Hu X.
    • Biochim Biophys Acta Rev Cancer. 2021 Feb 5:188521. doi: 10.1016/j.bbcan.2021.188521. Epub ahead of print.
    • Review
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    Commentary:

    ATR Inhibition as an Attractive Therapeutic Resource against Cancer.

    Press: Bayer's ATR Inhibitor May Benefit Cancers With ATM Aberrations, Early Data Suggest (Precision Oncology News)

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    • FDA Approves Lynparza With Myriad, Foundation Med CDx Tests in HRR-Mutated Prostate Cancer
    • [No author given]
    • GenomeWeb. 2020 May 20.
    • FDA approves olaparib for HRR gene-mutated metastatic castration-resistant prostate cancer.
    • [No author given]
    • U.S. Food & Drug Administration. Drug Approvals. 2020 May 20.

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    • Biomarker-Guided Development of DNA Repair Inhibitors.
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    • Review
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    • Li MM, Chao E, Esplin ED, Miller DT, Nathanson KL, Plon SE, Scheuner MT, Stewart DR; ACMG Professional Practice and Guidelines Committee.
    • Genet Med. 2020 Apr 23. doi: 10.1038/s41436-020-0783-8. Epub ahead of print.

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    News, Interview: Q&A: ACMG Work Group Hoping to Spark Discussion on Reporting Germline Findings From Tumor Testing. (Precision Oncology News)

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    • Review
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    • BRCA Mutation Association with Recurrence Score and Discordance in a Large Oncotype Database.
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    • Review, Commentary
    • Incorporating immunohistochemical markers into screening methods for BRCA1-mutated breast cancer.
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    • Cancer Susceptibility Mutations in Patients With Urothelial Malignancies.
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    • Mutational Screening of BRCA1/2 Genes as a Predictive Factor for Therapeutic Response in Epithelial Ovarian Cancer: A Consensus Guide from the Spanish Society of Pathology (SEAP-IAP) and the Spanish Society of Human Genetics (AEGH).
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    • Genomic Profile and BRCA-1 Promoter Methylation Status in BRCA Mutated Ovarian Cancer: New Insights in Predictive Biomarkers of Olaparib Response.
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    • Bevacizumab As Maintenance Treatment in Patients With Ovarian Cancer: Wait for BRCA Testing.
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    • J Clin Oncol. 2019 Nov 7:JCO1902055. doi: 10.1200/JCO.19.02055. [Epub ahead of print]

    Related:

    Original research:

    Final Overall Survival of a Randomized Trial of Bevacizumab for Primary Treatment of Ovarian Cancer.

    • Automated Workflow for Somatic and Germline Next Generation Sequencing Analysis in Routine Clinical Cancer Diagnostics.
    • Muscarella LA, Fabrizio FP, De Bonis M, Mancini MT, Balsamo T, Graziano P, Centra F, Sparaneo A, Trombetta D, Bonfitto A, Scagliusi V, Larizza P, Capoluongo ED, Fazio VM.
    • Cancers (Basel). 2019 Oct 30;11(11). pii: E1691. doi: 10.3390/cancers11111691.
    • FDA Approval of Myriad Genetics CDx Adds HRD to Growing List of Ovarian Cancer Predictive Markers.
    • Ray T.
    • GenomeWeb. 2019 Oct 29.
    • Cases in Precision Medicine: The Role of Tumor and Germline Genetic Testing in Breast Cancer Management.
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    • Ann Intern Med. 2019 Oct 22. doi: 10.7326/M18-2417. [Epub ahead of print]
    • Review
    • Clinical significance of TP53 variants as possible secondary findings in tumor-only next-generation sequencing.
    • Yamamoto Y, Kanai M, Kou T, Sugiyama A, Nakamura E, Miyake H, Yamada T, Nishigaki M, Kondo T, Murakami H, Torishima M, Matsumoto S, Kosugi S, Muto M.
    • J Hum Genet. 2019 Oct 18. doi: 10.1038/s10038-019-0681-6. [Epub ahead of print]
    • BRCA1/2 Molecular Assay for Ovarian Cancer Patients: A Survey through Italian Departments of Oncology and Molecular and Genomic Diagnostic Laboratories.
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    • Diagnostics (Basel). 2019 Oct 9;9(4). pii: E146. doi: 10.3390/diagnostics9040146.
    • ADP-ribosylation Levels and Patterns Correlate with Gene Expression and Clinical Outcomes in Ovarian Cancers.
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    • 'Landmark' Trial in Prostate Cancer With Mutations.
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    • Can somatic BRCA2 status solve a case of olaparib monotherapy resistance?
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    • Next-generation sequencing-based BRCA testing on cytological specimens from ovarian cancer ascites reveals high concordance with tumour tissue analysis.
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    • Germline and somatic mutations of multi-gene panel in Chinese patients with epithelial ovarian cancer: a prospective cohort study.
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    • Relationship Between Hereditary Cancer Syndromes and Oncotype DX Recurrence Score.
    • Casasanta N, Kipnis ST, Linville L, Lipinski S, Knoedler A, Marino A, McHenry A, Biagi T, Stark E, Amdur R, Denduluri N, Rodriguez P, Isaacs C, Kaltman R.
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    • Homologous recombination DNA repair defects in PALB2-associated breast cancers.
    • Li A, Geyer FC, Blecua P, Lee JY, Selenica P, Brown DN, Pareja F, Lee SSK, Kumar R, Rivera B, Bi R, Piscuoglio S, Wen HY, Lozada JR, Gularte-Mérida R, Cavallone L; kConFab Investigators, Rezoug Z, Nguyen-Dumont T, Peterlongo P, Tondini C, Terkelsen T, Rønlund K, Boonen SE, Mannerma A, Winqvist R, Janatova M, Rajadurai P, Xia B, Norton L, Robson ME, Ng PS, Looi LM, Southey MC, Weigelt B, Soo-Hwang T, Tischkowitz M, Foulkes WD, Reis-Filho JS.
    • NPJ Breast Cancer. 2019 Aug 8;5:23. doi: 10.1038/s41523-019-0115-9. eCollection 2019.
    • An optimized BRCA1/2 next-generation sequencing for different clinical sample types.
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    • Genomics applied to the treatment of breast cancer.
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    • From Targeting Somatic Mutations to Finding Inherited Cancer Predispositions: The Other Side of the Coin.
    • Pujol P, De La Motte Rouge T, Penault-Llorca F.
    • Diagnostics (Basel). 2019 Jul 26;9(3). pii: E83. doi: 10.3390/diagnostics9030083.
    • Framework Ranks 'Actionability' of Genetic Mutations for Precision Medicine.
    • Kerr DJ.
    • Medscape Oncology. 2019 Jul 18.

    Related:

    Original research:

    Genomic alterations in breast cancer: level of evidence for actionability according to ESMO Scale for Clinical Actionability of molecular Targets (ESCAT).

    • Clinical utility of FoundationOne tissue molecular profiling in men with metastatic prostate cancer.
    • Zhu J, Tucker M, Marin D, Gupta RT, Healy P, Humeniuk M, Jarvis C, Zhang T, McNamara M, George DJ, Wu Y, Lisi S, Armstrong AJ.
    • Urol Oncol. 2019 Jul 18. pii: S1078-1439(19)30244-3. doi: 10.1016/j.urolonc.2019.06.015. [Epub ahead of print]
    • FoundationOne CDx Approved as Companion Diagnostic to Lynparza in Ovarian Cancer.
    • [No author given.]
    • Clinical Omics. 2019 Jul 3.
    • Resolution Bioscience, Janssen Partner to Develop CDx for Niraparib in Prostate Cancer.
    • [No author given]
    • GenomeWeb. 2019 Jun 19.
    • Final Overall Survival of a Randomized Trial of Bevacizumab for Primary Treatment of Ovarian Cancer.
    • Tewari KS, Burger RA, Enserro D, Norquist BM, Swisher EM, Brady MF, Bookman MA, Fleming GF, Huang H, Homesley HD, Fowler JM, Greer BE, Boente M, Liang SX, Ye C, Bais C, Randall LM, Chan JK, Ferriss JS, Coleman RL, Aghajanian C, Herzog TJ, DiSaia PJ, Copeland LJ, Mannel RS, Birrer MJ, Monk BJ.
    • J Clin Oncol. 2019 Jun 19:JCO1901009. doi: 10.1200/JCO.19.01009. [Epub ahead of print]

    Related:

    Letter, Commentary:

    Bevacizumab As Maintenance Treatment in Patients With Ovarian Cancer: Wait for BRCA Testing.

    • Chromosome 12p amplification in triple-negative/BRCA1-mutated breast cancer associates with emergence of docetaxel resistance and carboplatin sensitivity.
    • Gómez-Miragaya J, Díaz-Navarro A, Tonda R, Beltran S, Palomero L, Palafox M, Dobrolecki LE, Huang C, Vasaikar S, Zhang B, Wulf GM, Collado-Solé A, Trinidad EM, Muñoz P, Paré L, Prat A, Bruna A, Caldas C, Arribas J, Soler-Monsó MT, Petit A, Balmaña J, Cruz C, Serra V, Pujana MA, Lewis MT, Puente XS, González-Suárez E.
    • Cancer Res. 2019 Jun 18. pii: canres.3835.2018. doi: 10.1158/0008-5472.CAN-18-3835. [Epub ahead of print]
    • Prevalence and characteristics of likely-somatic variants in cancer susceptibility genes among individuals who had hereditary pan-cancer panel testing.
    • Slavin TP, Coffee B, Bernhisel R, Logan J, Cox HC, Marcucci G, Weitzel J, Neuhausen SL, Mancini-DiNardo D.
    • Cancer Genet. 2019 Jun;235-236:31-38. doi: 10.1016/j.cancergen.2019.04.005. Epub 2019 Apr 13.
    • Liquid biopsy in breast cancer: A comprehensive review.
    • Alimirzaie S, Bagherzadeh M, Akbari MR.
    • Clin Genet. 2019 Jun;95(6):643-660. doi: 10.1111/cge.13514. Epub 2019 Jan 22.
    • Recommendations for the implementation of BRCA testing in ovarian cancer patients and their relatives.
    • Gori S, Barberis M, Bella MA, Buttitta F, Capoluongo E, Carrera P, Colombo N, Cortesi L, Genuardi M, Gion M, Guarneri V, Incorvaia L, La Verde N, Lorusso D, Marchetti A, Marchetti P, Normanno N, Pasini B, Pensabene M, Pignata S, Radice P, Ricevuto E, Sapino A, Tagliaferri P, Tassone P, Trevisiol C, Truini M, Varesco L, Russo A; AIOM-SIGU-SIBIOC-SIAPEC-IAP Working Group.
    • Crit Rev Oncol Hematol. 2019 May 25;140:67-72. doi: 10.1016/j.critrevonc.2019.05.012. [Epub ahead of print]
    • Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.
    • Nones K, Johnson J, Newell F, Patch AM, Thorne H, Kazakoff SH, de Luca XM, Parsons MT, Ferguson K, Reid L, Reed AEM, Srihari S, Lakis V, Davidson AL, Mukhopadhyay P, Holmes O, Xu Q, Wood S, Leonard C; Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab); Australian Breast Cancer Tissue Bank (ABCTB); Brisbane Breast Bank (BBB), Beesley J, Harris J, Barnes D, Degasperi A, Ragan MA, Spurdle AB, Khanna KK, Lakhani SR, Pearson JV, Nik-Zainal S, Chenevix-Trench G, Waddell N, Simpson PT.
    • Ann Oncol. 2019 May 15. pii: mdz132. doi: 10.1093/annonc/mdz132. [Epub ahead of print]

    Related:

    Editorial:

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

    • Universal tumor DNA BRCA1/2 testing of ovarian cancer: prescreening PARPi treatment and genetic predisposition.
    • Vos JR, Fakkert IE, de Hullu JA, van Altena AM, Sie AS, Ouchene H, Willems RW, Nagtegaal ID, Jongmans MCJ, Mensenkamp AR, Woldringh GH, Bulten J, Leter EM, Kets CM, Simons M, Ligtenberg MJL, Hoogerbrugge N.
    • J Natl Cancer Inst. 2019 May 11. pii: djz080. doi: 10.1093/jnci/djz080. [Epub ahead of print]

    Related:

    Letter, Comment:

    RE: Universal tumor DNA BRCA1/2 testing of ovarian cancer: prescreening PARPi treatment and genetic predisposition.

    • Germline PALB2 heterozygous mutations in breast cancers: Haploinsufficiency paradigm.
    • Ouyang Q, Hu ZY, Liu L, Gao J, Wu H, Lu J, Xie N, Tian C, Liu Z, Xu Y.
    • Ann Oncol. 2019 May;30 Suppl 3:iii11-iii12. doi: 10.1093/annonc/mdz095.032. Epub 2020 Jan 8.
    • Conference abstract
    • Whole genome sequencing of breast cancer.
    • Rossing M, Sørensen CS, Ejlertsen B, Nielsen FC.
    • APMIS. 2019 May;127(5):303-315. doi: 10.1111/apm.12920. Epub 2019 Jan 28.
    • Identifying disparities in germline and somatic testing for ovarian cancer.
    • Huang M, Kamath P, Schlumbrecht M, Miao F, Driscoll D, Oldak S, Slomovitz B, Koru-Sengul T, George S.
    • Gynecol Oncol. 2019 May;153(2):297-303. doi: 10.1016/j.ygyno.2019.03.007. Epub 2019 Mar 16.
    • ERCC1-XPF deficiency is a predictor of olaparib induced synthetic lethality and platinum sensitivity in epithelial ovarian cancers.
    • Mesquita KA, Alabdullah M, Griffin M, Toss MS, Fatah TMAA, Alblihy A, Moseley P, Chan SYT, Rakha EA, Madhusudan S.
    • Gynecol Oncol. 2019 May;153(2):416-424. doi: 10.1016/j.ygyno.2019.02.014. Epub 2019 Feb 20.
    • DNA damage repair alterations are frequent in prostatic adenocarcinomas with focal pleomorphic giant-cell features.
    • Lotan TL, Kaur HB, Alharbi AM, Pritchard CC, Epstein JI.
    • Histopathology. 2019 May;74(6):836-843. doi: 10.1111/his.13806. Epub 2019 Apr 1.
    • Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples.
    • Zakrzewski F, Gieldon L, Rump A, Seifert M, Grützmann K, Krüger A, Loos S, Zeugner S, Hackmann K, Porrmann J, Wagner J, Kast K, Wimberger P, Baretton G, Schröck E, Aust D, Klink B.
    • BMC Cancer. 2019 Apr 27;19(1):396. doi: 10.1186/s12885-019-5584-6.
    • Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883).
    • Hauke J, Hahnen E, Schneider S, Reuss A, Richters L, Kommoss S, Heimbach A, Marmé F, Schmidt S, Prieske K, Gevensleben H, Burges A, Borde J, De Gregorio N, Nürnberg P, El-Balat A, Thiele H, Hilpert F, Altmüller J, Meier W, Dietrich D, Kimmig R, Schoemig-Markiefka B, Kast K, Braicu E, Baumann K, Jackisch C, Park-Simon TW, Ernst C, Hanker L, Pfisterer J, Schnelzer A, du Bois A, Schmutzler RK, Harter P.
    • J Med Genet. 2019 Apr 12. pii: jmedgenet-2018-105930. doi: 10.1136/jmedgenet-2018-105930. [Epub ahead of print]
    • Germline Genetic Testing: What the Breast Surgeon Needs to Know.
    • Plichta JK, Sebastian ML, Smith LA, Menendez CS, Johnson AT, Bays SM, Euhus DM, Clifford EJ, Jalali M, Kurtzman SH, Taylor WA, Hughes KS.
    • Ann Surg Oncol. 2019 Apr 2. doi: 10.1245/s10434-019-07341-8. [Epub ahead of print]
    • Cytology material is equivalent to tumor tissue in determining mutations of BRCA 1/2 genes in patients with tubo-ovarian high grade serous carcinoma.
    • Gornjec A, Novakovic S, Stegel V, Hocevar M, Pohar Marinsek Z, Gazic B, Krajc M, Skof E.
    • BMC Cancer. 2019 Apr 2;19(1):296. doi: 10.1186/s12885-019-5535-2.
    • U.S. Food and Drug Administration-Approved Poly (ADP-Ribose) Polymerase Inhibitor Maintenance Therapy for Recurrent Ovarian Cancer: A Cost-Effectiveness Analysis.
    • Dottino JA, Moss HA, Lu KH, Secord AA, Havrilesky LJ.
    • Obstet Gynecol. 2019 Apr;133(4):795-802. doi: 10.1097/AOG.0000000000003171.
    • BRCA1/2 mutation spectrum in Chinese early-onset breast cancer.
    • Shen M, Yang L, Lei T, Xiao L, Li L, Zhang P, Feng W, Ye F, Bu H.
    • Transl Cancer Res. 2019 Apr;8(2):483-490. doi: 10.21037/tcr.2019.03.02.
    • A systematic review of international guidelines and recommendations for the genetic screening, diagnosis, genetic counseling, and treatment of BRCA-mutated breast cancer.
    • Forbes C, Fayter D, de Kock S, Quek RG.
    • Cancer Manag Res. 2019 Mar 22;11:2321-2337. doi: 10.2147/CMAR.S189627. eCollection 2019.
    • Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.
    • Lin PC, Yeh YM, Wu PY, Hsu KF, Chang JY, Shen MR.
    • Sci Rep. 2019 Mar 8;9(1):3931. doi: 10.1038/s41598-019-40571-0.
    • Genomic alterations in breast cancer: level of evidence for actionability according to ESMO Scale for Clinical Actionability of molecular Targets (ESCAT).
    • Condorelli R, Mosele F, Verret B, Bachelot T, Bedard PL, Cortes J, Hyman DM, Juric D, Krop I, Bieche I, Saura C, Sotiriou C, Cardoso F, Loibl S, Andre F, Turner NC.
    • Ann Oncol. 2019 Mar 1;30(3):365-373. doi: 10.1093/annonc/mdz036.

    Related:

    Commentary: Framework Ranks 'Actionability' of Genetic Mutations for Precision Medicine (Medscape Oncology)

    • BRCA mutation testing for ovarian cancer in the context of available targeted therapy: Survey and consensus of Hong Kong specialists.
    • Kwong A, Cheng KD, Hsue CV, Hui SK, Leung CR, Leung KA, Ngan KR, Soong SI.
    • Asia Pac J Clin Oncol. 2019 Mar;15 Suppl 2:20-31. doi: 10.1111/ajco.13116. Epub 2019 Mar 6.
    • [A Case of Early-Onset Breast Cancer for Which the Operative Indication for Breast Conservation Was Based on BRCA Genetic Testing].
    • Oki T, Sugimoto T, Ogawa M, Dabanaka K, Hanazaki K.
    • Gan To Kagaku Ryoho. 2019 Mar;46(3):555-557.
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    Commentary:

    The evolving landscape of predictive biomarkers of response to PARP inhibitors.

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    • BRCA2 Reversion Mutation Associated With Acquired Resistance to Olaparib in Estrogen Receptor-positive Breast Cancer Detected by Genomic Profiling of Tissue and Liquid Biopsy.
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    • Clin Breast Cancer. 2018 Apr;18(2):184-188. doi: 10.1016/j.clbc.2017.12.010. Epub 2017 Dec 21.
    • Mismatch repair deficiency is associated with MSI phenotype, increased tumor-infiltrating lymphocytes and PD-L1 expression in immune cells in ovarian cancer.
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    • Somatic Reversion of Germline BRCA2 Mutation Confers Resistance to Poly(ADP-ribose) Polymerase Inhibitor Therapy.
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    • JCO Precis Oncol. 2018 Nov [2018 Feb 14];2:1-6. doi: 10.1200/PO.17.00044.

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    Commentary:

    Tumor Suppressor Tolerance: Reversion Mutations in BRCA1 and BRCA2 and Resistance to PARP Inhibitors and Platinum.

    • MOBCdb: a comprehensive database integrating multi-omics data on breast cancer for precision medicine.
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    • Letter, Comment

    Related:

    Review:

    The Role of Genetic Testing in the Selection of Therapy for Breast Cancer: A Review.

    Letter, Reply:

    Current Challenges Associated With Next-Generation Sequencing of Breast Cancer-Reply.

    • BRCA1 protein expression and subcellular localization in primary breast cancer: Automated digital microscopy analysis of tissue microarrays.
    • Mahmoud AM, Macias V, Al-Alem U, Deaton RJ, Kadjaksy-Balla A, Gann PH, Rauscher GH.
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    • Reversion Mutations with Clinical Use of PARP Inhibitors: Many Genes, Many Versions.
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    Related:

    Secondary Somatic Mutations Restoring RAD51C and RAD51D Associated with Acquired Resistance to the PARP Inhibitor Rucaparib in High-grade Ovarian Carcinoma.

    Analysis of Circulating Cell-free DNA Identifies Multi-clonal Heterogeneity of BRCA2 Reversion Mutations Associated with Resistance to PARP Inhibitors.

    Circulating Free DNA to Guide Prostate Cancer Treatment with PARP Inhibition.

    • Secondary Somatic Mutations Restoring RAD51C and RAD51D Associated with Acquired Resistance to the PARP Inhibitor Rucaparib in High-grade Ovarian Carcinoma.
    • Kondrashova O, Nguyen M, Shield-Artin K, Tinker AV, Teng NNH, Harrell MI, Kuiper MJ, Ho GY, Barker H, Jasin M, Prakash R, Kass EM, Sullivan MR, Brunette GJ, Bernstein KA, Coleman RL, Floquet A, Friedlander M, Kichenadasse G, O'Malley DM, Oza AM, Sun JX, Robillard L, Maloney L, Bowtell DDL, Giordano H, Wakefield MJ, Kaufmann SH, Simmons AD, Harding TC, Raponi M, McNeish IA, Swisher EM, Lin K, Scott CL.
    • Cancer Discov. 2017 Sep;7(9):984-998. doi: 10.1158/2159-8290.CD-17-0419. Epub 2017 Jun 6.

    Related:

    Review:

    Reversion Mutations with Clinical Use of PARP Inhibitors: Many Genes, Many Versions.

    • DNA repair deficiency biomarkers and the 70-gene ultra-high risk signature as predictors of veliparib/carboplatin response in the I-SPY 2 breast cancer trial.
    • Wolf DM, Yau C, Sanil A, Glas A, Petricoin E, Wulfkuhle J, Severson TM, Linn S, Brown-Swigart L, Hirst G, Buxton M, DeMichele A, Hylton N, Symmans F, Yee D, Paoloni M, Esserman L, Berry D, Rugo H, Olopade O, van 't Veer L.
    • NPJ Breast Cancer. 2017 Aug 25;3:31. doi: 10.1038/s41523-017-0025-7. eCollection 2017.
    • Commentary on "Biallelic inactivation of BRCA2 in platinum-sensitive metastatic castration-resistant prostate cancer". Cheng HH, Pritchard CC, Boyd T, Nelson PS, Montgomery B. Eur Urol. Jun 2016;69(6):992-5.
    • Freedland S, Aronson W.
    • Urol Oncol. 2017 Aug;35(8):536. doi: 10.1016/j.urolonc.2017.05.011. Epub 2017 Jun 13.
    • Commentary

    Related:

    Biallelic Inactivation of BRCA2 in Platinum-sensitive Metastatic Castration-resistant Prostate Cancer.

    • NHERF1 together with PARP1 and BRCA1 expression as a new potential biomarker to stratify breast cancer patients.
    • Mangia A, Scarpi E, Partipilo G, Schirosi L, Opinto G, Giotta F, Simone G.
    • Oncotarget. 2017 Jul 22;8(39):65730-65742. doi: 10.18632/oncotarget.19444. eCollection 2017 Sep 12.
    • Hormone receptor status of a first primary breast cancer predicts contralateral breast cancer risk in the WECARE study population.
    • Reiner AS, Lynch CF, Sisti JS, John EM, Brooks JD, Bernstein L, Knight JA, Hsu L, Concannon P, Mellemkjær L, Tischkowitz M, Haile RW, Shen R, Malone KE, Woods M, Liang X, Morrow M, Bernstein JL; WECARE Study Collaborative Group.
    • Breast Cancer Res. 2017 Jul 19;19(1):83. doi: 10.1186/s13058-017-0874-x.
    • My Tumor Carries A BRCA Mutation. Does This Mean I’m A BRCA Carrier?
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    • My Gene Counsel. 2017 Jul 7.
    • Biological and clinical evidence for somatic mutations in BRCA1 and BRCA2 as predictive markers for olaparib response in high-grade serous ovarian cancers in the maintenance setting.
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    • Oncotarget. 2017 Jul 4;8(27):43653-43661. doi: 10.18632/oncotarget.17613.

    Related:

    Research news:

    Olaparib and somatic BRCA mutations.

    • Characterizing Molecular Variants and Clinical Utilization of Next-generation Sequencing in Advanced Breast Cancer.
    • Gurda GT, Ambros T, Nikiforova MN, Nikiforov YE, Lucas PC, Dabbs DJ, Lee AV, Brufsky AM, Puhalla SL, Bhargava R.
    • Appl Immunohistochem Mol Morphol. 2017 Jul;25(6):392-398. doi: 10.1097/PAI.0000000000000322.
    • Treatment Outcomes and Tumor Loss of Heterozygosity in Germline DNA Repair-deficient Prostate Cancer.
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    • Eur Urol. 2017 Jul;72(1):34-42. doi: 10.1016/j.eururo.2017.02.023. Epub 2017 Mar 1.
    • Germline and somatic mutations in homologous recombination genes among Chinese ovarian cancer patients detected using next-generation sequencing.
    • Zhao Q, Yang J, Li L, Cao D, Yu M, Shen K; BGI Group.
    • J Gynecol Oncol. 2017 Jul;28(4):e39. doi: 10.3802/jgo.2017.28.e39.
    • Next-Generation Sequencing-based genomic profiling of brain metastases of primary ovarian cancer identifies high number of BRCA-mutations.
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    • J Neurooncol. 2017 Jul;133(3):469-476. doi: 10.1007/s11060-017-2459-z. Epub 2017 May 11.
    • Analysis of BRCA1/2 mutation spectrum and prevalence in unselected Chinese breast cancer patients by next-generation sequencing.
    • Li G, Guo X, Tang L, Chen M, Luo X, Peng L, Xu X, Wang S, Xiao Z, Yi W, Dai L, Wang J.
    • J Cancer Res Clin Oncol. 2017 Jun 29. doi: 10.1007/s00432-017-2465-8. [Epub ahead of print]
    • BRCA1 reversion mutation acquired after treatment identified by liquid biopsy.
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    • Gynecol Oncol Rep. 2017 Jun 21;21:57-60. doi: 10.1016/j.gore.2017.06.010. eCollection 2017 Aug.
    • Metastatic Breast Cancer with BRCA Mutation Discovered By Next-Generation Sequencing Responding to Olaparib.
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    • Cureus. 2017 Jun 11;9(6):e1337. doi: 10.7759/cureus.1337.
    • DNA repair genes PAXIP1 and TP53BP1 expression is associated with breast cancer prognosis.
    • De Gregoriis G, Ramos JA, Fernandes PV, Vignal GM, Brianese RC, Carraro DM, Monteiro AN, Struchiner C, Suarez-Kurtz G, Vianna-Jorge R, de Carvalho MA.
    • Cancer Biol Ther. 2017 Jun 3;18(6):439-449. doi: 10.1080/15384047.2017.1323590. Epub 2017 May 5.
    • Guidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer Patients.
    • Capoluongo E, Ellison G, López-Guerrero JA, Penault-Llorca F, Ligtenberg MJL, Banerjee S, Singer C, Friedman E, Markiefka B, Schirmacher P, Büttner R, van Asperen CJ, Ray-Coquard I, Endris V, Kamel-Reid S, Percival N, Bryce J, Röthlisberger B, Soong R, de Castro DG.
    • Semin Oncol. 2017 Jun;44(3):187-197. doi: 10.1053/j.seminoncol.2017.08.004. Epub 2017 Sep 15.
    • BRCA promoter methylation in sporadic versus BRCA germline mutation-related breast cancers.
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    • Genomic Testing and Precision Medicine in Cancer Care.
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    • Oncotype Dx recurrence score among BRCA1/2 germline mutation carriers with hormone receptors positive breast cancer.
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    • Vitamin D receptor, Retinoid X receptor and peroxisome proliferator-activated receptor γ are overexpressed in BRCA1 mutated breast cancer and predict prognosis.
    • Heublein S, Mayr D, Meindl A, Kircher A, Jeschke U, Ditsch N.
    • J Exp Clin Cancer Res. 2017 Apr 20;36(1):57. doi: 10.1186/s13046-017-0517-1.
    • HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures.
    • Davies H, Glodzik D, Morganella S, Yates LR, Staaf J, Zou X, Ramakrishna M, Martin S, Boyault S, Sieuwerts AM, Simpson PT, King TA, Raine K, Eyfjord JE, Kong G, Borg Å, Birney E, Stunnenberg HG, van de Vijver MJ, Børresen-Dale AL, Martens JW, Span PN, Lakhani SR, Vincent-Salomon A, Sotiriou C, Tutt A, Thompson AM, Van Laere S, Richardson AL, Viari A, Campbell PJ, Stratton MR, Nik-Zainal S.
    • Nat Med. 2017 Apr;23(4):517-525. doi: 10.1038/nm.4292. Epub 2017 Mar 13.
    • Improved prediction of PARP inhibitor response and identification of synergizing agents through use of a novel gene expression signature generation algorithm.
    • McGrail DJ, Lin CC, Garnett J, Liu Q, Mo W, Dai H, Lu Y, Yu Q, Ju Z, Yin J, Vellano CP, Hennessy B, Mills GB, Lin SY.
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    • The Prognostic Value of BRCA1 and PARP Expression in Epithelial Ovarian Carcinoma: Immunohistochemical Detection.
    • Hjortkjær M, Waldstrøm M, Jakobsen A, Kanstrup H, Søgaard-Andersen E, Dahl Steffensen K.
    • Int J Gynecol Pathol. 2017 Mar;36(2):180-189. doi: 10.1097/PGP.0000000000000310.
    • Homologous recombination deficiency (HRD) testing in ovarian cancer clinical practice: a review of the literature.
    • Frey MK, Pothuri B.
    • Gynecol Oncol Res Pract. 2017 Feb 22;4:4. doi: 10.1186/s40661-017-0039-8. eCollection 2017.
    • The Role of Genetic Testing in the Selection of Therapy for Breast Cancer: A Review.
    • Niravath P, Cakar B, Ellis M.
    • JAMA Oncol. 2017 Feb 1;3(2):262-268. doi: 10.1001/jamaoncol.2016.2719.
    • Review

    Related:

    Letter, Comment:

    Current Challenges Associated With Next-Generation Sequencing of Breast Cancer.

    Related:

    Letter, Reply:

    Current Challenges Associated With Next-Generation Sequencing of Breast Cancer-Reply.

    • Novel BRCA1 and BRCA2 Tumour Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.
    • Weren RD, Mensenkamp AR, Simons M, Eijkelenboom A, Sie AS, Ouchene H, van Asseldonk M, Gomez-Garcia EB, Blok MJ, de Hullu JA, Nelen MR, Hoischen A, Bulten J, Tops BB, Hoogerbrugge N, Ligtenberg EM.
    • Hum Mutat. 2017 Feb;38(2):226-235. doi: 10.1002/humu.23137. Epub 2016 Nov 9.
    • Molecularly confirmed Li-Fraumeni-like syndrome in a patient with breast cancer and a low pre-test probability for harboring a germline CHEK2 truncation
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    • Molecular determination of the clonal relationships between multiple tumors in BRCA1/2-associated breast and/or ovarian cancer patients is clinically relevant.
    • Geurts-Giele WR, van Verschuer VM, van Deurzen CH, van Diest PJ, Pedrosa RM, Collée JM, Koppert LB, Seynaeve C, Dinjens WN.
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    • Molecular analysis of BRCA1 and BRCA2 genes by next generation sequencing and ultrastructural aspects of breast tumor tissue.
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    • Rom J Morphol Embryol. 2017;58(2):445-455.
    • Predictors of Chemosensitivity in Triple Negative Breast Cancer: An Integrated Genomic Analysis.
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    • Therapeutic potential of taxanes in the treatment of metastatic pancreatic cancer.
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    • Sequencing-based breast cancer diagnostics as an alternative to routine biomarkers.
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    • Beside P53 and PTEN: Identification of molecular alterations of the RAS/MAPK and PI3K/AKT signaling pathways in high-grade serous ovarian carcinomas to determine potential novel therapeutic targets.
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    • Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.
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    Related:

    Editorial / Commentary

    Toward Concurrent Testing for Somatic and Germline Variants in Cancer Patients.

    • Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests one third of mutations are somatic.
    • Winter C, Nilsson MP, Olsson E, George AM, Chen Y, Kvist A, Törngren T, Vallon-Christersson J, Hegardt C, Häkkinen J, Jönsson G, Grabau D, Malmberg M, Kristoffersson U, Rehn M, Gruvberger-Saal SK, Larsson C, Borg Å, Loman N, Saal LH.
    • Ann Oncol. 2016 Aug;27(8):1532-8. doi: 10.1093/annonc/mdw209. Epub 2016 May 18.
    • Molecular Testing in Breast Cancer: A Guide to Current Practices.
    • Hagemann IS.
    • Arch Pathol Lab Med. 2016 Aug;140(8):815-24. doi: 10.5858/arpa.2016-0051-RA.
    • Single-sample expression-based chemo-sensitivity score improves survival associations independently from genomic mutations for ovarian cancer Patients.
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    • Genomic/Epigenomic Alterations in Ovarian Carcinoma: Translational Insight into Clinical Practice.
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    • Oncotype-DX recurrence score distribution in breast cancer patients with BRCA1/2 mutations.
    • Lewin R, Sulkes A, Shochat T, Tsoref D, Rizel S, Liebermann N, Hendler D, Neiman V, Ben-Aharon I, Friedman E, Paluch-Shimon S, Margel D, Kedar I, Yerushalmi R.
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    Related:

    Commentary:

    Commentary on "Biallelic inactivation of BRCA2 in platinum-sensitive metastatic castration-resistant prostate cancer". Cheng HH, Pritchard CC, Boyd T, Nelson PS, Montgomery B. Eur Urol. Jun 2016;69(6):992-5.

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    Related:

    News: Breast cancer mutation map could aid personalised treatment (PHG Foundation)

    Press: Scientists say they now have a near-perfect picture of the genetic events that cause breast cancer. (BBC.com)

    Press: Personalized Breast Cancer Treatment Gets Closer to Reality (Time.com)

    • The Significance of Proteomic Biomarkers in Male Breast Cancer.
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    • How Far Do We Go With Genetic Evaluation? Gene, Panel, and Tumor Testing.
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    • Am Soc Clin Oncol Educ Book. 2016 May;(36):e72-e78. doi: 10.1200/EDBK_160391.
    • Twenty-one-gene recurrence score assay in BRCA-associated versus sporadic breast cancers: Differences based on germline mutation status.
    • Shah PD, Patil S, Dickler MN, Offit K, Hudis CA, Robson ME.
    • Cancer. 2016 Apr 15;122(8):1178-1184. doi: 10.1002/cncr.29903. Epub 2016 Feb 9.
    • Different Array CGH profiles within hereditary breast cancer tumors associated to BRCA1 expression and overall survival.
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    • BMC Cancer. 2016 Mar 15;16(1):219. doi: 10.1186/s12885-016-2261-x.
    • Re: "Clinical Sequencing Contributes to a BRCA-Associated Cancer Rediagnosis That Guides an Effective Therapeutic Course".
    • Klauschen F, Bläker H, Stenzinger A, Chapman JS, Collisson EA, Taylor BS.
    • J Natl Compr Canc Netw. 2016 Mar;14(3):lxvi-lxviii.
    • Letter

    Related:

    Case report

    Clinical Sequencing Contributes to a BRCA-Associated Cancer Rediagnosis That Guides an Effective Therapeutic Course.

    Response / Letter

    The Authors Respond.

    • Veliparib Alone or in Combination with Mitomycin C in Patients with Solid Tumors With Functional Deficiency in Homologous Recombination Repair.
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    • The cancer genetics and pathology of male breast cancer.
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    • Br J Cancer. 2015 Dec 15;113(S1):S17-S21. doi: 10.1038/bjc.2015.396.
    • Review
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    • Genes Chromosomes Cancer. 2015 Dec;54(12):734-44. doi: 10.1002/gcc.22284. Epub 2015 Sep 10.
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    Related:

    Comment / Editorial

    Biology before Anatomy in Early Breast Cancer--Precisely the Point.

    Letter

    A 21-Gene Expression Assay in Breast Cancer.

    Letter

    A 21-Gene Expression Assay in Breast Cancer.

    Letter

    A 21-Gene Expression Assay in Breast Cancer.

    Press: Breast Cancer Gene Test Helps Predict Who Can Skip Chemo (NPR)

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    • Classifications within molecular subtypes enables identification of BRCA1/BRCA2 mutation carriers by RNA tumor profiling.
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    Related:

    Research news: Can BRCA Expression Predict Response to Chemotherapy? (Medscape)

    • Exome profiling of primary, metastatic and recurrent ovarian carcinomas in a BRCA1-positive patient.
    • Zhang J, Shi Y, Lalonde E, Li L, Cavallone L, Ferenczy A, Gotlieb WH, Foulkes WD, Majewski J.
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    • Phenotypic characterization of hereditary epithelial ovarian cancer based on a tissue microarray study.
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    • Histol Histopathol. 2013 Jan;28(1):133-44.
    • PIK3CA mutations are frequently observed in BRCAX but not BRCA2-associated male breast cancer.
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    • Breast Cancer Res. 2013;15(4):R69.
    • High grade prostatic intraepithelial neoplasia does not display loss of heterozygosity at the mutation locus in BRCA2 mutation carriers with aggressive prostate cancer.
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    Related:

    Press: Tiny genetic variation can predict ovarian cancer outcome. (EurekAlert!)

    • BRCA1/2 mutations and expression: response to platinum chemotherapy in patients with advanced stage epithelial ovarian cancer.
    • Dann RB, DeLoia JA, Timms KM, Zorn KK, Potter J, Flake DD 2nd, Lanchbury JS, Krivak TC.
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    • Somatic mutations in the BRCA1 gene in Chinese women with sporadic breast cancer.
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