Tumor / Somatic Testing ~ Therapy / Treatment
~ Genetics of Breast & Ovarian Cancer

All manner of testing of somatic tumor tissue in HBOC-related cancers for the purposes of making treatment decisions; Includes papers concerning testing of circulating tumor DNA (ctDNA) for treatment decisions.

List was last updated on Jul 26, 2021 @ 6:38 am.


    • MAPK4 silencing together with a PARP1 inhibitor as a combination therapy in triple-negative breast cancer cells.
    • Zeng X, Jiang S, Ruan S, Guo Z, Guo J, Liu M, Ye C, Dong J.
    • Mol Med Rep. 2021 Aug;24(2):548. doi: 10.3892/mmr.2021.12187. Epub 2021 Jun 3.
    • Genetically Informed Prostate Cancer Treatment for Metastatic Disease.
    • Siebert AL, Szymaniak BM, Numan Y, Morgans AK.
    • Urol Clin North Am. 2021 Aug;48(3):365-371. doi: 10.1016/j.ucl.2021.03.006. Epub 2021 Jun 10.
    • Review
    • Follow-up of tissue genomics in BRCA1/2 carriers who underwent prophylactic surgeries.
    • Kotoula V, Papadopoulou K, Tikas I, Fostira F, Vrettou E, Chrisafi S, Fountzilas E, Koliou GA, Apostolou P, Papazisis K, Zaramboukas T, Asimaki-Vlachopoulou A, Miliaras S, Ananiadis A, Poulios C, Natsiopoulos I, Tsiftsoglou A, Demiri E, Fountzilas G.
    • Breast Cancer. 2021 Jul 24. doi: 10.1007/s12282-021-01276-3. Epub ahead of print.
    • Association of somatic mutations in BRCA2 BRC domain with chemotherapy sensitivity and survival in high grade serous ovarian cancer.
    • Zhang G, Zhang J, Zhu Y, Liu H, Shi Y, Mi K, Li M, Zhao Q, Huang Z, Huang J.
    • Exp Cell Res. 2021 Jul 21:112742. doi: 10.1016/j.yexcr.2021.112742. Epub ahead of print.
    • Success Factors and Barriers in Combining Personalized Medicine and Patient Centered Care in Breast Cancer. Results from a Systematic Review and Proposal of Conceptual Framework.
    • Giulio de Belvis A, Pellegrino R, Castagna C, Morsella A, Pastorino R, Boccia S.
    • J Pers Med. 2021 Jul 13;11(7):654. doi: 10.3390/jpm11070654.
    • The germline/somatic DNA damage repair gene mutations modulate the therapeutic response in Chinese patients with advanced pancreatic ductal adenocarcinoma.
    • Shui L, Li X, Peng Y, Tian J, Li S, He D, Li A, Tian B, Li M, Gao H, An N, Yi C, Cao D.
    • J Transl Med. 2021 Jul 12;19(1):301. doi: 10.1186/s12967-021-02972-6.
    • Assistance by routine CT features combined with 3D texture analy- sis in the diagnosis of BRCA gene mutation status in advanced epithelial ovarian cancer.
    • LI MR, wei W, Liu MZ, Zhou Y, Ya-qiong GE.
    • Front Oncol. 2021 Jul 8;10:716467. doi: 10.3389/fonc.2021.696780.
    • Multi-Gene Testing Overview with a Clinical Perspective in Metastatic Triple-Negative Breast Cancer.
    • Dameri M, Ferrando L, Cirmena G, Vernieri C, Pruneri G, Ballestrero A, Zoppoli G.
    • Int J Mol Sci. 2021 Jul 1;22(13):7154. doi: 10.3390/ijms22137154.
    • Biomarkers for Homologous Recombination Deficiency in Cancer.
    • Wagener-Ryczek S, Merkelbach-Bruse S, Siemanowski J.
    • J Pers Med. 2021 Jun 28;11(7):612. doi: 10.3390/jpm11070612.
    • Assessing Genetic Variants in Matched Biocompartments From Patients With Serous Ovarian Cancer.
    • Sanders BE, Ku L, Walker P, Bitler BG.
    • Technol Cancer Res Treat. 2021 Jan-Dec [First Published June 25, 2021.];20:15330338211027917. doi: 10.1177/15330338211027917.
    • A Subset of Localized Prostate Cancer Displays an Immunogenic Phenotype Associated with Losses of Key Tumor Suppressor Genes.
    • Calagua C, Ficial M, Jansen CS, Hirz T, Del Balzo L, Wilkinson S, Lake R, Ku AT, Voznesensky O, Sykes DB, Saylor PJ, Ye H, Signoretti S, Kissick H, Sowalsky AG, Balk SP, Einstein DJ.
    • Clin Cancer Res. 2021 Jun 24:clincanres.0121.2021. doi: 10.1158/1078-0432.CCR-21-0121. Epub ahead of print.
    • Reliability of Tumor Testing Compared to Germline Testing for Detecting BRCA1 and BRCA2 Mutations in Patients with Epithelial Ovarian Cancer.
    • Bekos C, Grimm C, Kranawetter M, Polterauer S, Oberndorfer F, Tan Y, Müllauer L, Singer CF.
    • J Pers Med. 2021 Jun 24;11(7):593. doi: 10.3390/jpm11070593.
    • The RAD51-FFPE Test; Calibration of a Functional Homologous Recombination Deficiency Test on Diagnostic Endometrial and Ovarian Tumor Blocks.
    • van Wijk LM, Kramer CJH, Vermeulen S, ter Haar NT, de Jonge MM, Kroep JR, de Kroon CD, Gaarenstroom KN, Vrieling H, Bosse T, Vreeswijk MPG.
    • Cancers (Basel). 2021 Jun 18;13(12):2994. doi: 10.3390/cancers13122994.
    • Comparison of Genetic Profiling between Primary Tumor and Circulating Tumor Cells Captured by Microfluidics in Epithelial Ovarian Cancer: Tumor Heterogeneity or Allele Dropout?
    • Chang TY, Chen SW, Lin WH, Huang CE, Evans MI, Chung IF, Wu JW, Ma GC, Chen M.
    • Diagnostics (Basel). 2021 Jun 16;11(6):E1102. doi: 10.3390/diagnostics11061102.
    • A DNA methylation-based liquid biopsy for triple-negative breast cancer.
    • Cristall K, Bidard FC, Pierga JY, Rauh MJ, Popova T, Sebbag C, Lantz O, Stern MH, Mueller CR.
    • NPJ Precis Oncol. 2021 Jun 16;5(1):53. doi: 10.1038/s41698-021-00198-9.
    • Prevalence and clinical impact of tumor BRCA1 and BRCA2 mutations in patients presenting with localized or metastatic hormone-sensitive prostate cancer.
    • Martinez Chanza N, Bernard B, Barthelemy P, Accarain A, Paesmans M, Desmyter L, T'Kint de Roodenbeke D, Gil T, Sideris S, Roumeguere T, Hamid AA, Sweeney CJ.
    • Prostate Cancer Prostatic Dis. 2021 Jun 9. doi: 10.1038/s41391-021-00397-2. Epub ahead of print.
    • Biomarker Analyses in the Phase 3 ASCENT Study of Sacituzumab Govitecan Versus Chemotherapy in Patients with Metastatic Triple-Negative Breast Cancer.
    • Bardia A, Tolaney SM, Punie K, Loirat D, Oliveira M, Kalinsky K, Zelnak A, Aftimos P, Dalenc F, Sardesai S, Hamilton E, Sharma P, Recalde S, Gil EC, Traina T, O'Shaughnessy J, Cortes J, Tsai M, Vahdat L, Diéras V, Carey LA, Rugo HS, Goldenberg DM, Hong Q, Olivo M, Itri LM, Hurvitz SA.
    • Ann Oncol. 2021 Jun 8:S0923-7534(21)02047-0. doi: 10.1016/j.annonc.2021.06.002. Epub ahead of print.
    • Elucidating Prostate Cancer Behaviour During Treatment via Low-pass Whole-genome Sequencing of Circulating Tumour DNA.
    • Sumanasuriya S, Seed G, Parr H, Christova R, Pope L, Bertan C, Bianchini D, Rescigno P, Figueiredo I, Goodall J, Fowler G, Flohr P, Mehra N, Neeb A, Rekowski J, Eisenberger M, Sartor O, Oudard S, Geffriaud-Ricouard C, Ozatilgan A, Chadjaa M, Macé S, Lord C, Baxter J, Pettitt S, Lambros M, Sharp A, Mateo J, Carreira S, Yuan W, de Bono JS.
    • Eur Urol. 2021 Jun 5:S0302-2838(21)01799-1. doi: 10.1016/j.eururo.2021.05.030. Epub ahead of print.
    • Precision Medicine in Oncology: A Review of Multi-Tumor Actionable Molecular Targets with an Emphasis on Non-Small Cell Lung Cancer.
    • Stein MK, Oluoha O, Patel K, VanderWalde A.
    • J Pers Med. 2021 Jun 5;11(6):518. doi: 10.3390/jpm11060518.
    • Increased Radiosensitivity of Solid Tumors Harboring ATM and BRCA1/2 Mutations.
    • Kim KH, Kim HS, Kim SS, Shim HS, Yang AJ, Lee JJB, Yoon HI, Ahn JB, Chang JS.
    • Cancer Res Treat. 2021 Jun 4. doi: 10.4143/crt.2020.1247. Epub ahead of print.
    • Advances in the Treatment of Platinum Resistant Epithelial Ovarian Cancer: an update on standard and experimental therapies.
    • Leung SOA, Konstantinopoulos PA.
    • Expert Opin Investig Drugs. 2021 Jun 4. doi: 10.1080/13543784.2021.1939305. Epub ahead of print.
    • Review
    • Concordance of DNA Repair Gene Mutations in Paired Primary Prostate Cancer Samples and Metastatic Tissue or Cell-Free DNA.
    • Schweizer MT, Sivakumar S, Tukachinsky H, Coleman I, De Sarkar N, Yu EY, Konnick EQ, Nelson PS, Pritchard CC, Montgomery B.
    • JAMA Oncol. 2021 Jun 4. doi: 10.1001/jamaoncol.2021.2350. Epub ahead of print.
    • Circulating Tumor DNA Testing for Homology Recombination Repair Genes in Prostate Cancer: From the Lab to the Clinic.
    • Cimadamore A, Cheng L, Massari F, Santoni M, Pepi L, Franzese C, Scarpelli M, Lopez-Beltran A, Galosi AB, Montironi R.
    • Int J Mol Sci. 2021 May 24;22(11):5522. doi: 10.3390/ijms22115522.
    • BRCA Genetic Test and Risk-Reducing Salpingo-Oophorectomy for Hereditary Breast and Ovarian Cancer: State-of-the-Art.
    • Sekine M, Nishino K, Enomoto T.
    • Cancers (Basel). 2021 May 23;13(11):2562. doi: 10.3390/cancers13112562.
    • Perthera, Side-Out Foundation Partner to Advance Precision Oncology in Breast Cancer.
    • [No author given]
    • Precision Oncology News. Cancer Specialties. Breast Cancer. 2021 May 21.
    • Unique evolutionary trajectories of breast cancers with distinct genomic and spatial heterogeneity.
    • Phung TN, Webster TH, Lenkiewicz E, Malasi S, Andreozzi M, McCullough AE, Anderson KS, Pockaj BA, Wilson MA, Barrett MT.
    • Sci Rep. 2021 May 19;11(1):10571. doi: 10.1038/s41598-021-90170-1.
    • High BRCA2 Gene Expression is Associated with Aggressive and Highly Proliferative Breast Cancer.
    • Satyananda V, Oshi M, Endo I, Takabe K.
    • Ann Surg Oncol. 2021 May 8. doi: 10.1245/s10434-021-10063-5. Epub ahead of print.

    Related:

    Commentary:

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

    • Homologous Recombination Repair Deficiency and Implications for Tumor Immunogenicity.
    • van Wilpe S, Tolmeijer SH, Koornstra RHT, de Vries IJM, Gerritsen WR, Marjolijn Ligtenberg M, Mehra N.
    • Cancers (Basel). 2021 May 7;13(9):2249. doi: 10.3390/cancers13092249.
    • Evaluation of BRCA1 and BRCA2 as Indicators of Response to Immune Checkpoint Inhibitors.
    • Zhou Z, Li M.
    • JAMA Netw Open. 2021 May 7;4(5):e217728. doi: 10.1001/jamanetworkopen.2021.7728.
    • Tumor genotyping and homologous recombination repair gene variants in patients with epithelial ovarian cancer: is pathogenic enough?
    • Fountzilas E, Kotoula V, Koliou GA, Liontos M, Papadopoulou K, Giannoulatou E, Papanikolaou A, Tikas I, Chrisafi S, Mauri D, Chatzopoulos K, Fostira F, Pectasides D, Oikonomopoulos G, Aivazi D, Andrikopoulou A, Visvikis A, Aravantinos G, Zagouri F, Fountzilas G.
    • Front Oncol. 2021 May 6;10:683057. doi: 10.3389/fonc.2021.683057.
    • Tumor genomic, transcriptomic, and immune profiling characterizes differential response to first-line platinum chemotherapy in high grade serous ovarian cancer.
    • 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.
    • The Quandary of DNA-Based Treatment Assessment in De Novo Metastatic Prostate Cancer in the Era of Precision Oncology.
    • Nakken S, Lilleby W, Switlyk MD, Knudsen KE, Lilleby O, Zhao S, Kaveh F, Ekstrøm PO, Urbanucci A, Hovig E.
    • J Pers Med. 2021 Apr 22;11(5):330. doi: 10.3390/jpm11050330.
    • Preferences for and acceptability of receiving pharmacogenomic results by mail: A focus group study with a primarily African-American cohort.
    • Chan PA, Lewis KL, Biesecker BB, Erby LH, Fasaye GA, Epps S, Biesecker LG, Turbitt E.
    • J Genet Couns. 2021 Apr 19. doi: 10.1002/jgc4.1424. Epub ahead of print.
    • 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.
    • Genomics. 2021 Apr 17:S0888-7543(21)00156-7. doi: 10.1016/j.ygeno.2021.04.029. Epub ahead of print.
    • Treatment Strategies for ARID1A-Deficient Ovarian Clear Cell Carcinoma.
    • Takahashi K, Takenaka M, Okamoto A, Bowtell DDL, Kohno T.
    • Cancers (Basel). 2021 Apr 7;13(8):E1769. doi: 10.3390/cancers13081769.
    • 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.
    • Cancers (Basel). 2021 Apr 1;13(7):1656. doi: 10.3390/cancers13071656.
    • 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.

    Related:

    Editorial:

    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.

    • 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
    • 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.
    • 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.
    • Ruscito I, Gasparri ML, De Marco MP, Costanzi F, Besharat AR, Papadia A, Kuehn T, Gentilini OD, Bellati F, Caserta D.
    • 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.
    • Piombino C, Mastrolia I, Omarini C, Candini O, Dominici M, Piacentini F, Toss A.
    • Biomedicines. 2021 Mar 18;9(3):312. doi: 10.3390/biomedicines9030312.
    • 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.
    • Front Oncol. 2021 Mar 5;10:625866. doi: 10.3389/fonc.2020.625866.
    • 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 3. doi: 10.1007/s11033-021-06243-x. Epub ahead of print.
    • Case report
    • 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.
    • Am Soc Clin Oncol Educ Book. 2021 Mar;41:1-13. doi: 10.1200/EDBK_321255.
    • Germline and tumor BRCA1/2 mutations in Chinese high grade serous ovarian cancer patients.
    • Ji G, Yao Q, Bao L, Zhang J, Bai Q, Zhu X, Tu X, Bi R, Zhou X.
    • 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.
    • 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.
    • 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):E946. 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.
    • 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.

    Related:

    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
    • Clinical significance of comprehensive genomic profiling tests covered by public insurance in patients with advanced solid cancers in Hokkaido, Japan.
    • Kikuchi J, Ohhara Y, Takada K, Tanabe H, Hatanaka K, Amano T, C Hatanaka K, Hatanaka Y, Mitamura T, Kato M, Shibata Y, Yabe I, Endoh A, Komatsu Y, Matsuno Y, Sugiyama M, Manabe A, Sakurai A, Takahashi M, Naruse H, Torimoto Y, Dosaka-Akita H, Kinoshita I.
    • Jpn J Clin Oncol. 2021 Feb 3:hyaa277. doi: 10.1093/jjco/hyaa277. Epub ahead of print.
    • Droplet digital PCR for large genomic rearrangements detection: A promising strategy in tissue BRCA1 testing.
    • De Paolis E, De Bonis M, Concolino P, Piermattei A, Fagotti A, Urbani A, Scambia G, Minucci A, Capoluongo E.
    • Clin Chim Acta. 2021 Feb;513:17-24. doi: 10.1016/j.cca.2020.12.001. Epub 2020 Dec 7.
    • Heterogeneity and clonal evolution of acquired PARP inhibitor resistance in TP53- and BRCA1-deficient cells.
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    • Research news
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    • High resolution melting profiles (HRMPs) obtained by magnetic induction cycler (MIC) have been used to monitor the BRCA2 status highlighted by next generation tumor sequencing (NGTS): a combined approach in a diagnostic environment.
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    • [No author given]
    • GenomeWeb. 2020 May 20.
    • FDA approves olaparib for HRR gene-mutated metastatic castration-resistant prostate cancer.
    • [No author given]
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    • Biomarker-Guided Development of DNA Repair Inhibitors.
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    • The Impact of Whole Genome Data on Therapeutic Decision-Making in Metastatic Prostate Cancer: A Retrospective Analysis.
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    • Genet Med. 2020 Apr 23. doi: 10.1038/s41436-020-0783-8. Epub ahead of print.

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    • Positron Emission Tomography Imaging of Poly-(Adenosine Diphosphate-Ribose) Polymerase 1 Expression in Breast Cancer: A Nonrandomized Clinical Trial.
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    • Review
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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.
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    • 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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    • ADP-ribosylation Levels and Patterns Correlate with Gene Expression and Clinical Outcomes in Ovarian Cancers.
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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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    • Inherited cancer syndromes in 220 Italian ovarian cancer patients.
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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.
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    • Homologous recombination DNA repair defects in PALB2-associated breast cancers.
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    • 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.
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    • 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]
    • Liquid biopsy in breast cancer: A comprehensive review.
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    • 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
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    • Identifying disparities in germline and somatic testing for ovarian cancer.
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    • 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.
    • 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.
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    • 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.
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    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.
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    • Combined Targeted Resequencing of Cytosine DNA Methylation and Mutations of DNA Repair Genes with Potential Use for Poly(ADP-Ribose) Polymerase 1 Inhibitor Sensitivity Testing.
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    • Concurrent isolated retroperitoneal HGSC and STIC defined by somatic mutation analysis: a case report.
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    • Somatic aberrations of BRCA1 gene are associated with ALDH1, EGFR, and tumor progression in prostate cancer.
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    • BRCA Reversion Mutations in Circulating Tumor DNA Predict Primary and Acquired Resistance to the PARP Inhibitor Rucaparib in High-Grade Ovarian Carcinoma.
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    • Clin Cancer Res. 2017 Dec 15;23(24):7521-7530. doi: 10.1158/1078-0432.CCR-17-1941.
    • Detection of BRCA1/2 mutations in circulating tumor DNA from patients with ovarian cancer.
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    • The roles of pathology in targeted therapy of women with gynecologic cancers.
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    • Therapy response testing of breast cancer in a 3D high-throughput perfused microfluidic platform.
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    • BMC Cancer. 2017 Nov 2;17(1):709. doi: 10.1186/s12885-017-3709-3.
    • Diverse BRCA1 and BRCA2 Reversion Mutations in Circulating Cell-Free DNA of Therapy-Resistant Breast or Ovarian Cancer.
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    • Clin Cancer Res. 2017 Nov 1;23(21):6708-6720. doi: 10.1158/1078-0432.CCR-17-0544. Epub 2017 Aug 1.
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    • Combining Enzalutamide with PARP inhibitors: Pharmaceutically induced BRCAness.
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    • Hypoxia-induced factor-1 alpha, vascular endothelial growth factor expression in BRCA1-related breast cancer: A prospective study in tertiary care hospital.
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    • Indian J Pathol Microbiol. 2017 Oct-Dec;60(4):469-474. doi: 10.4103/IJPM.IJPM_524_16.
    • Analysis of BRCA1/2 mutation spectrum and prevalence in unselected Chinese breast cancer patients by next-generation sequencing.
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    • J Cancer Res Clin Oncol. 2017 Oct;143(10):2011-2024. doi: 10.1007/s00432-017-2465-8. Epub 2017 Jun 29.
    • Targeted exome sequencing of Korean triple-negative breast cancer reveals homozygous deletions associated with poor prognosis of adjuvant chemotherapy-treated patients.
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    • Oncotarget. 2017 Jun 27;8(37):61538-61550. doi: 10.18632/oncotarget.18618. eCollection 2017 Sep 22.
    • Novel immunohistochemistry-based signatures to predict metastatic site of triple-negative breast cancers.
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    • Br J Cancer. 2017 Sep 5;117(6):826-834. doi: 10.1038/bjc.2017.224. Epub 2017 Jul 18.
    • Current Challenges Associated With Next-Generation Sequencing of Breast Cancer.
    • Sorscher S.
    • JAMA Oncol. 2017 Sep 1;3(9):1283-1284. doi: 10.1001/jamaoncol.2017.0659.
    • 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.
    • PLoS One. 2017 Sep 1;12(9):e0184385. doi: 10.1371/journal.pone.0184385. eCollection 2017.
    • Reversion Mutations with Clinical Use of PARP Inhibitors: Many Genes, Many Versions.
    • Domchek SM.
    • Cancer Discov. 2017 Sep;7(9):937-939. doi: 10.1158/2159-8290.CD-17-0734.
    • Review

    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?
    • [No author given]
    • 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.
    • Dougherty BA, Lai Z, Hodgson DR, Orr MCM, Hawryluk M, Sun J, Yelensky R, Spencer SK, Robertson JD, Ho TW, Fielding A, Ledermann JA, Barrett JC.
    • 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.
    • Annala M, Struss WJ, Warner EW, Beja K, Vandekerkhove G, Wong A, Khalaf D, Seppälä IL, So A, Lo G, Aggarwal R, Small EJ, Nykter M, Gleave ME, Chi KN, Wyatt AW.
    • 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.
    • Balendran S, Liebmann-Reindl S, Berghoff AS, Reischer T, Popitsch N, Geier CB, Kenner L, Birner P, Streubel B, Preusser M.
    • 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.
    • Rizvi W, Truong P, Truong Q.
    • 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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    • Int J Cancer. 2017 May 1;140(9):2145-2149. doi: 10.1002/ijc.30616. Epub 2017 Feb 8.
    • 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.
    • NPJ Syst Biol Appl. 2017 Mar 6;3:8. doi: 10.1038/s41540-017-0011-6. eCollection 2017.
    • 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
    • Sorscher S
    • Integr Cancer Sci Ther. 2017 Feb;4(1). doi: 10.15761/ICST.1000224. Epub 2017 Feb 27.
    • 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.
    • Mod Pathol. 2017 Jan;30(1):15-25. doi: 10.1038/modpathol.2016.145. Epub 2016 Sep 9.
    • Molecular analysis of BRCA1 and BRCA2 genes by next generation sequencing and ultrastructural aspects of breast tumor tissue.
    • Mihalcea CE, Moroşanu AM, Murăraşu D, Puiu L, Cinca SA, Voinea SC, Mirancea N.
    • Rom J Morphol Embryol. 2017;58(2):445-455.
    • Predictors of Chemosensitivity in Triple Negative Breast Cancer: An Integrated Genomic Analysis.
    • Jiang T, Shi W, Wali VB, Pongor LS, Li C, Lau R, Győrffy B, Lifton RP, Symmans WF, Pusztai L, Hatzis C.
    • PLoS Med. 2016 Dec 13;13(12):e1002193. doi: 10.1371/journal.pmed.1002193. eCollection 2016.
    • Therapeutic potential of taxanes in the treatment of metastatic pancreatic cancer.
    • Lemstrova R, Melichar B, Mohelnikova-Duchonova B.
    • Cancer Chemother Pharmacol. 2016 Dec;78(6):1101-1111. Epub 2016 Jun 1.
    • Review
    • BRCA1 expression in benign and malignant breast lesions.
    • Fernández Á, Reigosa A.
    • Invest Clin. 2016 Dec;57(4):330-51.
    • Population Frequency of Germline BRCA1/2 Mutations.
    • Maxwell KN, Domchek SM, Nathanson KL, Robson ME.
    • J Clin Oncol. 2016 Dec;34(34):4183-4185. Epub 2016 Oct 31.
    • Sequencing-based breast cancer diagnostics as an alternative to routine biomarkers.
    • Rantalainen M, Klevebring D, Lindberg J, Ivansson E, Rosin G, Kis L, Celebioglu F, Fredriksson I, Czene K, Frisell J, Hartman J, Bergh J, Grönberg H.
    • Sci Rep. 2016 Nov 30;6:38037. doi: 10.1038/srep38037.
    • 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.
    • Chen S, Cavazza E, Barlier C, Salleron J, Filhine-Tresarrieu P, Gavoilles C, Merlin JL, Harlé A.
    • Oncol Lett. 2016 Nov;12(5):3264-3272. Epub 2016 Sep 2.
    • [BRCA1 and BRCA2 - pathologists starting kit].
    • Škapa P.
    • Cesk Patol. 2016 Fall;52(4):193-196.
    • [Testing of mutations in BRCA1 and BRCA2 genes in tumor tissues - possibilities and limitations].
    • Vošmiková H, Ryška A, Sieglová K, Laco J.
    • Cesk Patol. 2016 Fall;52(4):210-214.
    • Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.
    • Seifert BA, O'Daniel JM, Amin K, Marchuk DS, Patel NM, Parker JS, Hoyle AP, Mose LE, Marron A, Hayward MC, Bizon C, Wilhelmsen KC, Evans JP, Earp HS, Sharpless N, Hayes DN, Berg JS.
    • Clin Cancer Res. 2016 Aug 15;22(16):4087-94. doi: 10.1158/1078-0432.CCR-16-0015. Epub 2016 Apr 15.

    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.
    • Zimmermann MT, Jiang G, Wang C.
    • AMIA Jt Summits Transl Sci Proc. 2016 Jul 20;2016:94-100. eCollection 2016.
    • Genomic/Epigenomic Alterations in Ovarian Carcinoma: Translational Insight into Clinical Practice.
    • Dong A, Lu Y, Lu B.
    • J Cancer. 2016 Jul 5;7(11):1441-51. doi: 10.7150/jca.15556. eCollection 2016.
    • 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.
    • Breast Cancer Res Treat. 2016 Jun;157(3):511-6. doi: 10.1007/s10549-016-3836-6. Epub 2016 May 25.
    • Biallelic Inactivation of BRCA2 in Platinum-sensitive Metastatic Castration-resistant Prostate Cancer.
    • Cheng HH, Pritchard CC, Boyd T, Nelson PS, Montgomery B.
    • Eur Urol. 2016 Jun;69(6):992-5. doi: 10.1016/j.eururo.2015.11.022. Epub 2015 Dec 24.

    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.

    • The Clinical Impact of BRCA2 Loss in Prostate Cancer.
    • Bryant HE.
    • Eur Urol. 2016 Jun;69(6):996-7. doi: 10.1016/j.eururo.2015.12.009. Epub 2015 Dec 18.
    • NGS-based BRCA1/2 mutation testing of high-grade serous ovarian cancer tissue: results and conclusions of the first international round robin trial.
    • Endris V, Stenzinger A, Pfarr N, Penzel R, Möbs M, Lenze D, Darb-Esfahani S, Hummel M, Sabine-Merkelbach-Bruse, Jung A, Lehmann U, Kreipe H, Kirchner T, Büttner R, Jochum W, Höfler G, Dietel M, Weichert W, Schirmacher P.
    • Virchows Arch. 2016 Jun;468(6):697-705. doi: 10.1007/s00428-016-1919-8. Epub 2016 Mar 22.
    • Comprehensive analysis of lncRNA expression profiles reveals a novel lncRNA signature to discriminate nonequivalent outcomes in patients with ovarian cancer.
    • Zhou M, Sun Y, Sun Y, Xu W, Zhang Z, Zhao H, Zhong Z, Sun J.
    • Oncotarget. 2016 May 31;7(22):32433-48. doi: 10.18632/oncotarget.8653.
    • Biallelic BRCA2 Mutations Shape the Somatic Mutational Landscape of Aggressive Prostate Tumors.
    • Decker B, Karyadi DM, Davis BW, Karlins E, Tillmans LS, Stanford JL, Thibodeau SN, Ostrander EA.
    • Am J Hum Genet. 2016 May 5;98(5):818-829. doi: 10.1016/j.ajhg.2016.03.003. Epub 2016 Apr 14.
    • Landscape of somatic mutations in 560 breast cancer whole-genome sequences.
    • Nik-Zainal S, Davies H, Staaf J, Ramakrishna M, Glodzik D, Zou X, Martincorena I, Alexandrov LB, Martin S, Wedge DC, Van Loo P, Ju YS, Smid M, Brinkman AB, Morganella S, Aure MR, Lingjærde OC, Langerød A, Ringnér M, Ahn SM, Boyault S, Brock JE, Broeks A, Butler A, Desmedt C, Dirix L, Dronov S, Fatima A, Foekens JA, Gerstung M, Hooijer GK, Jang SJ, Jones DR, Kim HY, King TA, Krishnamurthy S, Lee HJ, Lee JY, Li Y, McLaren S, Menzies A, Mustonen V, O'Meara S, Pauporté I, Pivot X, Purdie CA, Raine K, Ramakrishnan K, Rodríguez-González FG, Romieu G, Sieuwerts AM, Simpson PT, Shepherd R, Stebbings L, Stefansson OA, Teague J, Tommasi S, Treilleux I, Van den Eynden GG, Vermeulen P, Vincent-Salomon A, Yates L, Caldas C, van't Veer L, Tutt A, Knappskog S, Tan BK, Jonkers J, Borg Å, Ueno NT, Sotiriou C, Viari A, Futreal PA, Campbell PJ, Span PN, Van Laere S, Lakhani SR, Eyfjord JE, Thompson AM, Birney E, Stunnenberg HG, van de Vijver MJ, Martens JW, Børresen-Dale AL, Richardson AL, Kong G, Thomas G, Stratton MR.
    • Nature. 2016 May 2;534(7605):47-54. doi: 10.1038/nature17676.

    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.
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    • 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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    • J Natl Cancer Inst. 2016 Feb 4;108(7). pii: djv437. doi: 10.1093/jnci/djv437. Print 2016 Jul.
    • BRCA somatic and germline mutation detection in paraffin embedded ovarian cancers by next-generation sequencing.
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    • Oncotarget. 2016 Jan 12;7(2):1076-83. doi: 10.18632/oncotarget.6834.
    • Genetic heterogeneity after first-line chemotherapy in high-grade serous ovarian cancer.
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    • Genomic testing and precision medicine - What does this mean for gynecologic oncology?
    • Liu J, Konstantinopoulos PA, Matulonis UA.
    • Gynecol Oncol. 2016 Jan;140(1):3-5. doi: 10.1016/j.ygyno.2015.12.001. Epub 2015 Dec 4.
    • The cancer genetics and pathology of male breast cancer.
    • Deb S, Lakhani SR, Ottini L, Fox SB.
    • Histopathology. 2016 Jan;68(1):110-8. doi: 10.1111/his.12862.
    • How Far Do We Go With Genetic Evaluation? Gene, Panel, and Tumor Testing.
    • Lynce F, Isaacs C.
    • Am Soc Clin Oncol Educ Book. 2016;35:e72-e78. doi: 10.14694/EDBK_160391.
    • UK BRCA mutation testing in patients with ovarian cancer.
    • George A.
    • Br J Cancer. 2015 Dec 15;113(S1):S17-S21. doi: 10.1038/bjc.2015.396.
    • Review
    • Copy number profiling by array comparative genomic hybridization identifies frequently occurring BRCA2-like male breast cancer.
    • Biesma HD, Schouten PC, Lacle MM, Sanders J, Brugman W, Kerkhoven R, Mandjes I, van der Groep P, van Diest PJ, Linn SC.
    • Genes Chromosomes Cancer. 2015 Dec;54(12):734-44. doi: 10.1002/gcc.22284. Epub 2015 Sep 10.
    • Prospective Validation of a 21-Gene Expression Assay in Breast Cancer.
    • Sparano JA, Gray RJ, Makower DF, Pritchard KI, Albain KS, Hayes DF, Geyer CE Jr, Dees EC, Perez EA, Olson JA Jr, Zujewski J, Lively T, Badve SS, Saphner TJ, Wagner LI, Whelan TJ, Ellis MJ, Paik S, Wood WC, Ravdin P, Keane MM, Gomez Moreno HL, Reddy PS, Goggins TF, Mayer IA, Brufsky AM, Toppmeyer DL, Kaklamani VG, Atkins JN, Berenberg JL, Sledge GW.
    • N Engl J Med. 2015 Nov 19;373(21):2005-14. doi: 10.1056/NEJMoa1510764. Epub 2015 Sep 27.

    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)

    • Homologous Recombination Deficiency: Exploiting the Fundamental Vulnerability of Ovarian Cancer.
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    • Breast Cancer Experience of the Molecular Tumor Board at the University of California, San Diego Moores Cancer Center.
    • Parker BA, Schwaederlé M, Scur MD, Boles SG, Helsten T, Subramanian R, Schwab RB, Kurzrock R.
    • J Oncol Pract. 2015 Nov;11(6):442-9. doi: 10.1200/JOP.2015.004127. Epub 2015 Aug 4.
    • Next generation sequencing of triple negative breast cancer to find predictors for chemotherapy response.
    • Lips EH, Michaut M, Hoogstraat M, Mulder L, Besselink NJ, Koudijs MJ, Cuppen E, Voest EE, Bernards R, Nederlof PM, Wesseling J, Rodenhuis S, Wessels LF; Center for Personalized Cancer Treatment.
    • Breast Cancer Res. 2015 Oct 3;17(1):134. doi: 10.1186/s13058-015-0642-8.
    • Immunoprofile from tissue microarrays to stratify familial breast cancer patients.
    • Schirosi L, De Summa S, Tommasi S, Paradiso A, Sambiasi D, Popescu O, Simone G, Mangia A.
    • Oncotarget. 2015 Sep 29;6(29):27865-79. doi: 10.18632/oncotarget.4720.
    • Development of a Comprehensive NGS Workflow for the Analysis of Tumor BRCA1 and BRCA2 Mutations and Large Rearrangements.
    • Dong Z, Dong H, Zhong X, Peng Z, Zhu X, Sun Y, Chen Y, Liu C, Yin X, Zhu G, Zheng H, Gu Y.
    • J Genet Genome Res 2(2):019. 2015 Sep 28.
    • Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.
    • Ellingson MS, Hart SN, Kalari KR, Suman V, Schahl KA, Dockter TJ, Felten SJ, Sinnwell JP, Thompson KJ, Tang X, Vedell PT, Barman P, Sicotte H, Eckel-Passow JE, Northfelt DW, Gray RJ, McLaughlin SA, Moreno-Aspitia A, Ingle JN, Moyer AM, Visscher DW, Jones K, Conners A, McDonough M, Wieben ED, Wang L, Weinshilboum R, Boughey JC, Goetz MP.
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    • A 2015 update on predictive molecular pathology and its role in targeted cancer therapy: a review focussing on clinical relevance.
    • Dietel M, Jöhrens K, Laffert MV, Hummel M, Bläker H, Pfitzner BM, Lehmann A, Denkert C, Darb-Esfahani S, Lenze D, Heppner FL, Koch A, Sers C, Klauschen F, Anagnostopoulos I.
    • Cancer Gene Ther. 2015 Sep;22(9):417-30. doi: 10.1038/cgt.2015.39. Epub 2015 Sep 11.
    • The importance of proper bioinformatics analysis and clinical interpretation of tumor genomic profiling: a case study of undifferentiated sarcoma and a constitutional pathogenic BRCA2 mutation and an MLH1 variant of uncertain significance.
    • Varga E, Chao EC, Yeager ND.
    • Fam Cancer. 2015 Sep;14(3):481-5. doi: 10.1007/s10689-015-9790-3.
    • Clinical Sequencing Contributes to a BRCA-Associated Cancer Rediagnosis That Guides an Effective Therapeutic Course.
    • Chapman JS, Asthana S, Cade L, Chang MT, Wang Z, Zaloudek CJ, Ueda S, Collisson EA, Taylor BS.
    • J Natl Compr Canc Netw. 2015 Jul;13(7):835-45.
    • Germ-Line, Other Actionable Mutations Reported with Next-Generation Sequencing.
    • [No author given]
    • ASCO Daily News. 2015 ASCO Annual Meeting. 2015 Jun 1.
    • Whole-genome characterization of chemoresistant ovarian cancer.
    • Patch AM, Christie EL, Etemadmoghadam D, Garsed DW, George J, Fereday S, Nones K, Cowin P, Alsop K, Bailey PJ, Kassahn KS, Newell F, Quinn MC, Kazakoff S, Quek K, Wilhelm-Benartzi C, Curry E, Leong HS; Australian Ovarian Cancer Study Group, Hamilton A, Mileshkin L, Au-Yeung G, Kennedy C, Hung J, Chiew YE, Harnett P, Friedlander M, Quinn M, Pyman J, Cordner S, O'Brien P, Leditschke J, Young G, Strachan K, Waring P, Azar W, Mitchell C, Traficante N, Hendley J, Thorne H, Shackleton M, Miller DK, Arnau GM, Tothill RW, Holloway TP, Semple T, Harliwong I, Nourse C, Nourbakhsh E, Manning S, Idrisoglu S, Bruxner TJ, Christ AN, Poudel B, Holmes O, Anderson M, Leonard C, Lonie A, Hall N, Wood S, Taylor DF, Xu Q, Fink JL, Waddell N, Drapkin R, Stronach E, Gabra H, Brown R, Jewell A, Nagaraj SH, Markham E, Wilson PJ, Ellul J, McNally O, Doyle MA, Vedururu R, Stewart C, Lengyel E, Pearson JV, Waddell N, deFazio A, Grimmond SM, Bowtell DD.
    • Nature. 2015 May 28;521(7553):489-94. doi: 10.1038/nature14410.
    • Breast cancer under age 40: a different approach.
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    • Curr Treat Options Oncol. 2015 Apr;16(4):334. doi: 10.1007/s11864-015-0334-8.
    • Review
    • A reliable method for the detection of BRCA1 and BRCA2 mutations in fixed tumour tissue utilising multiplex PCR-based targeted next generation sequencing.
    • Ellison G, Huang S, Carr H, Wallace A, Ahdesmaki M, Bhaskar S, Mills J.
    • BMC Clin Pathol. 2015 Mar 24;15:5. doi: 10.1186/s12907-015-0004-6. eCollection 2015.
    • Therogenetics: transferring GWAS technology to the clinic.
    • Cox DG, Heudel PE, Trédan O, Bachelot T.
    • Mutagenesis. 2015 Mar;30(2):213-5. doi: 10.1093/mutage/geu060.
    • High expression of miR-214 is associated with a worse disease-specific survival of the triple-negative breast cancer patients.
    • Kalniete D, Nakazawa-Miklaševiča M, Štrumfa I, Āboliņš A, Irmejs A, Gardovskis J, Miklaševičs E.
    • Hered Cancer Clin Pract. 2015 Feb 8;13(1):7. doi: 10.1186/s13053-015-0028-z. eCollection 2015.
    • Mutational profiling of familial male breast cancers reveals similarities with luminal A female breast cancer with rare TP53 mutations.
    • Deb S, Wong SQ, Li J, Do H, Weiss J, Byrne D, Chakrabarti A, Bosma T; kConFab Investigators, Fellowes A, Dobrovic A, Fox SB.
    • Br J Cancer. 2014 Dec 9;111(12):2351-2360. doi: 10.1038/bjc.2014.511.
    • Association of BRCA1/2 defects with genomic scores predictive of DNA damage repair deficiency among breast cancer subtypes.
    • Timms KM, Abkevich V, Hughes E, Neff C, Reid J, Morris B, Kalva S, Potter J, Tran TV, Chen J, Iliev D, Sangale Z, Tikishvili E, Perry M, Zharkikh A, Gutin A, Lanchbury JS.
    • Breast Cancer Res. 2014 Dec 5;16(6):475. doi: 10.1186/s13058-014-0475-x.
    • Establishing the origin of metastatic deposits in the setting of multiple primary malignancies: the role of massively parallel sequencing.
    • De Mattos-Arruda L, Bidard FC, Won HH, Cortes J, Ng CK, Peg V, Nuciforo P, Jungbluth AA, Weigelt B, Berger MF, Seoane J, Reis-Filho JS.
    • Mol Oncol. 2014 Feb;8(1):150-8. doi: 10.1016/j.molonc.2013.10.006. Epub 2013 Oct 31.
    • Tumor mutation burden forecasts outcome in ovarian cancer with BRCA1 or BRCA2 mutations.
    • Birkbak NJ, Kochupurakkal B, Izarzugaza JM, Eklund AC, Li Y, Liu J, Szallasi Z, Matulonis UA, Richardson AL, Iglehart JD, Wang ZC.
    • PLoS One. 2013 Nov 12;8(11):e80023. doi: 10.1371/journal.pone.0080023. eCollection 2013.
    • Calls for genetic screening of ovarian cancer patients.
    • Philippa Brice.
    • PHG Foundation. 2013 Sep 18.
    • Short telomeres are frequent in hereditary breast tumors and are associated with high tumor grade.
    • Martinez-Delgado B, Gallardo M, Tanic M, Yanowsky K, Inglada-Perez L, Barroso A, Rodriguez-Pinilla M, Cañamero M, Blasco MA, Benitez J.
    • Breast Cancer Res Treat. 2013 Sep;141(2):231-42. doi: 10.1007/s10549-013-2696-6. Epub 2013 Sep 15.
    • Poly(adenosine diphosphate-ribose) polymerase expression in BRCA-proficient ovarian high-grade serous carcinoma; association with patient survival.
    • Gan A, Green AR, Nolan CC, Martin S, Deen S.
    • Hum Pathol. 2013 Aug;44(8):1638-47. doi: 10.1016/j.humpath.2013.01.015. Epub 2013 Apr 8.
    • Multiplex DNA sensor for BRAF and BRCA detection.
    • Ai X, Ma Q, Su X.
    • Anal Biochem. 2013 Jul 1;438(1):22-8. doi: 10.1016/j.ab.2013.02.029. Epub 2013 Mar 13.
    • Tumour diploidy and survival in breast cancer patients with BRCA2 mutations.
    • Tryggvadottir L, Olafsdottir EJ, Olafsdottir GH, Sigurdsson H, Johannsson OT, Bjorgvinsson E, Alexiusdottir K, Stefansson OA, Agnarsson BA, Narod SA, Eyfjord JE, Jonasson JG.
    • Breast Cancer Res Treat. 2013 Jul;140(2):375-84. doi: 10.1007/s10549-013-2637-4. Epub 2013 Jul 16.
    • Clinical-pathologic significance of cancer stem cell marker expression in familial breast cancers.
    • Bane A, Viloria-Petit A, Pinnaduwage D, Mulligan AM, O'Malley FP, Andrulis IL.
    • Breast Cancer Res Treat. 2013 Jul;140(1):195-205. doi: 10.1007/s10549-013-2591-1. Epub 2013 Jun 28.
    • Classifications within molecular subtypes enables identification of BRCA1/BRCA2 mutation carriers by RNA tumor profiling.
    • Larsen MJ, Kruse TA, Tan Q, Lænkholm AV, Bak M, Lykkesfeldt AE, Sørensen KP, Hansen TV, Ejlertsen B, Gerdes AM, Thomassen M.
    • PLoS One. 2013 May 21;8(5):e64268. doi: 10.1371/journal.pone.0064268. Print 2013.
    • BRCA1 expression and improved survival in ovarian cancer patients treated with intraperitoneal cisplatin and paclitaxel: a Gynecologic Oncology Group Study.
    • Lesnock JL, Darcy KM, Tian C, Deloia JA, Thrall MM, Zahn C, Armstrong DK, Birrer MJ, Krivak TC.
    • Br J Cancer. 2013 Apr 2;108(6):1231-7. doi: 10.1038/bjc.2013.70. Epub 2013 Mar 5.

    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.
    • BMC Cancer. 2013 Mar 22;13:146. doi: 10.1186/1471-2407-13-146.
    • Phenotypic characterization of hereditary epithelial ovarian cancer based on a tissue microarray study.
    • Muñoz-Repeto I, García MJ, Kamieniak M, Ramón Y Cajal T, Domingo S, Cazorla A, García Donas J, Hernando Polo S, García Sagredo JM, Hernández E, Lacambra C, Saez R, Robles L, Borrego S, Prat J, Palacios J, Benítez J.
    • Histol Histopathol. 2013 Jan;28(1):133-44.
    • PIK3CA mutations are frequently observed in BRCAX but not BRCA2-associated male breast cancer.
    • Deb S, Do H, Byrne D, Jene N; kConFab Investigators, Dobrovic A, Fox SB.
    • 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.
    • Willems-Jones A, Kavanagh L, Clouston D, Bolton D; kConFab Investigators, Fox S, Thorne H.
    • BJU Int. 2012 Dec;110(11 Pt C):E1181-6. doi: 10.1111/j.1464-410X.2012.11519.x. Epub 2012 Oct 4.
    • [Translational research and diagnostics for breast cancer].
    • Kreipe HH.
    • Pathologe. 2012 Nov;33 Suppl 2:282-90. doi: 10.1007/s00292-012-1645-1.
    • Review, [Article in German]
    • A KRAS variant is a biomarker of poor outcome, platinum chemotherapy resistance and a potential target for therapy in ovarian cancer.
    • Ratner ES, Keane FK, Lindner R, Tassi RA, Paranjape T, Glasgow M, Nallur S, Deng Y, Lu L, Steele L, Sand S, Muller RU, Bignotti E, Bellone S, Boeke M, Yao X, Pecorelli S, Ravaggi A, Katsaros D, Zelterman D, Cristea MC, Yu H, Rutherford TJ, Weitzel JN, Neuhausen SL, Schwartz PE, Slack FJ, Santin AD, Weidhaas JB.
    • Oncogene. 2012 Oct 18;31(42):4559-66. doi: 10.1038/onc.2011.539. Epub 2011 Dec 5.

    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.
    • Gynecol Oncol. 2012 Jun;125(3):677-82. doi: 10.1016/j.ygyno.2012.03.006. Epub 2012 Mar 8.
    • Somatic mutations in the BRCA1 gene in Chinese women with sporadic breast cancer.
    • Zhang M, Xu Y, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • Breast Cancer Res Treat. 2012 Feb;132(1):335-40. doi: 10.1007/s10549-011-1887-2. Epub 2011 Nov 25.