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 Apr 21, 2021 @ 10:55 pm.


    • 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.
    • 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.
    • 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.
    • 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.
    • 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.
    • 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.
    • 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 O, 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 AD, Loehr A, Venstrom JM, Oxnard GR.
    • Clin Cancer Res. 2021 Feb 9. doi: 10.1158/1078-0432.CCR-20-4805. Epub ahead of print.
    • 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.
    • Färkkilä A, Rodríguez A, Oikkonen J, Gulhan DC, Nguyen H, Domínguez J, Ramos S, Mills CE, Perez-Villatoro F, Lazaro JB, Zhou J, Clairmont CS, Moreau LA, Park PJ, Sorger PK, Hautaniemi S, Frias S, D'Andrea AD.
    • Cancer Res. 2021 Jan 29:canres.2912.2020. doi: 10.1158/0008-5472.CAN-20-2912. Epub ahead of print.
    • Genomic Features and Classification of Homologous Recombination Deficient Pancreatic Ductal Adenocarcinoma.
    • Golan T, O'Kane GM, Denroche RE, Raitses-Gurevich M, Grant RC, Holter S, Wang Y, Zhang A, Jang GH, Stossel C, Atias D, Halperin S, Berger R, Glick Y, Patrick Park JY, Cuggia A, Williamson L, Wong HL, Schaeffer DF, Renouf DJ, Borgida A, Dodd A, Wilson JM, Fischer SE, Notta F, Knox JJ, Zogopoulos G, Gallinger S.
    • Gastroenterology. 2021 Jan 29:S0016-5085(21)00326-7. doi: 10.1053/j.gastro.2021.01.220. Epub ahead of print.
    • CAMK2N1/RUNX3 methylation is an independent prognostic biomarker for progression-free and overall survival of platinum-sensitive epithelial ovarian cancer patients.
    • Heinze K, Rengsberger M, Gajda M, Jansen L, Osmers L, Oliveira-Ferrer L, Schmalfeldt B, Dürst M, Häfner N, Runnebaum IB.
    • Clin Epigenetics. 2021 Jan 22;13(1):15. doi: 10.1186/s13148-021-01006-8.
    • Homologous recombination deficiency: how genomic signatures are generated.
    • Setton J, Reis-Filho JS, Powell SN.
    • Curr Opin Genet Dev. 2021 Jan 18;66:93-100. doi: 10.1016/j.gde.2021.01.002. Epub ahead of print.
    • Review
    • Homologous recombination deficiency (HRD) score in germline BRCA2- versus ATM-altered prostate cancer.
    • Lotan TL, Kaur HB, Salles DC, Murali S, Schaeffer EM, Lanchbury JS, Isaacs WB, Brown R, Richardson AL, Cussenot O, Cancel-Tassin G, Timms KM, Antonarakis ES.
    • Mod Pathol. 2021 Jan 18. doi: 10.1038/s41379-020-00731-4. Epub ahead of print.
    • Current Ovarian Cancer Maintenance Strategies and Promising New Developments.
    • Gogineni V, Morand S, Staats H, Royfman R, Devanaboyina M, Einloth K, Dever D, Stanbery L, Aaron P, Manning L, Walter A, Edelman G, Dworkin L, Nemunaitis J.
    • J Cancer. 2021 Jan 1;12(1):38-53. doi: 10.7150/jca.49406.
    • Updates and New Options in Advanced Epithelial Ovarian Cancer Treatment.
    • Kurnit KC, Fleming GF, Lengyel E.
    • Obstet Gynecol. 2021 Jan 1;137(1):108-121. doi: 10.1097/AOG.0000000000004173.
    • PARP inhibitor resistance and TP53 mutations in patients treated with olaparib for BRCA-mutated cancer: Four case reports.
    • Collot T, Niogret J, Carnet M, Chevrier S, Humblin E, Favier L, Bengrine-Lefevre L, Desmoulins I, Arnould L, Boidot R.
    • Mol Med Rep. 2021 Jan;23(1):75. doi: 10.3892/mmr.2020.11713. Epub 2020 Nov 25.
    • Case report
    • Concordance between Tumor and Germline BRCA Status in High-Grade Ovarian Carcinoma Patients in the Phase III PAOLA-1/ENGOT-ov25 Trial.
    • Callens C, Vaur D, Soubeyran I, Rouleau E, Just PA, Guillerm E, Golmard L, Goardon N, Sevenet N, Cabaret O, Harter P, Gonzalez-Martin A, Fujiwara K, Cecere SC, Colombo N, Marth C, Vergote I, Maenpaa J, Pujade-Lauraine E, Ray-Coquard I.
    • J Natl Cancer Inst. 2020 Dec 29:djaa193. doi: 10.1093/jnci/djaa193. Epub ahead of print.
    • 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. 2020 Dec 26:S0090-8258(20)34178-0. doi: 10.1016/j.ygyno.2020.12.007. Epub ahead of print.
    • Motivations and barriers to pursue cancer genomic testing: a systematic review.
    • Smith-Uffen M, Bartley N, Davies G, Best M.
    • Patient Educ Couns. 2020 Dec 25:S0738-3991(20)306881. doi: 10.1016/j.pec.2020.12.024. Epub ahead of print.
    • Review
    • Impact of BRCA Mutation Status on Tumor Infiltrating Lymphocytes (TILs), Response to Treatment, and Prognosis in Breast Cancer Patients Treated with Neoadjuvant Chemotherapy.
    • Grandal B, Evrevin C, Laas E, Jardin I, Rozette S, Laot L, Dumas E, Coussy F, Pierga JY, Brain E, Saule C, Stoppa-Lyonnet D, Frank S, Sénéchal C, Lae M, De Croze D, Bataillon G, Guerin J, Reyal F, Hamy AS.
    • Cancers (Basel). 2020 Dec 8;12(12):3681. doi: 10.3390/cancers12123681.
    • Current practices on genetic testing in ovarian cancer.
    • Fostira F, Papadimitriou M, Papadimitriou C.
    • Ann Transl Med. 2020 Dec;8(24):1703. doi: 10.21037/atm-20-1422.
    • Biomarkers in Her2- Positive Disease.
    • Klocker EV, Suppan C.
    • Breast Care (Basel). 2020 Dec;15(6):586-593. doi: 10.1159/000512283. Epub 2020 Oct 28.
    • Review
    • PARP Inhibitors in Prostate Cancer: Practical Guidance for Busy Clinicians.
    • VanderWeele DJ, Hussain M.
    • Clin Adv Hematol Oncol. 2020 Dec;18(12).
    • Therapeutic Potential of PARP Inhibitors in the Treatment of Metastatic Castration-Resistant Prostate Cancer.
    • Jang A, Sartor O, Barata PC, Paller CJ.
    • Cancers (Basel). 2020 Nov 21;12(11):E3467. doi: 10.3390/cancers12113467.
    • Tumor BRCA Testing in High Grade Serous Carcinoma: Mutation Rates and Optimal Tissue Requirements.
    • Turashvili G, Lazaro C, Ying S, Charames G, Wong A, Hamilton K, Yee D, Agro E, Chang M, Pollett A, Lerner-Ellis J.
    • Cancers (Basel). 2020 Nov 21;12(11):E3468. doi: 10.3390/cancers12113468.
    • Beware Liquid Biopsies to Guide PARP Blockade.
    • [No author given]
    • Cancer Discov. 2020 Nov 18. doi: 10.1158/2159-8290.CD-NB2020-105. Epub ahead of print.
    • Research news
    • Triple-negative breast cancer: promising prognostic biomarkers currently in development.
    • Sukumar J, Gast K, Quiroga D, Lustberg M, Williams N.
    • Expert Rev Anticancer Ther. 2020 Nov 16. doi: 10.1080/14737140.2021.1840984. Epub ahead of print.
    • Review
    • Myriad Genetics Expands MyChoice CDx Access Through Partnerships in Europe, China.
    • [No author given]
    • Precision Oncology News. 2020 Nov 16.
    • Clinical Challenges in the Management of Hormone Receptor-Positive, Human Epidermal Growth Factor Receptor 2-Negative Metastatic Breast Cancer: A Literature Review.
    • Nagaraj G, Ma CX.
    • Adv Ther. 2020 Nov 15. doi: 10.1007/s12325-020-01552-2. Epub ahead of print.
    • Predictive and Prognostic Value of DNA Damage Response Associated Kinases in Solid Tumors.
    • Gachechiladze M, Skarda J, Bouchalova K, Soltermann A, Joerger M.
    • Front Oncol. 2020 Nov 3;10:581217. doi: 10.3389/fonc.2020.581217.
    • Genomic Profiling Comparison of Germline BRCA and Non-BRCA Carriers Reveals CCNE1 Amplification as a Risk Factor for Non-BRCA Carriers in Patients With Triple-Negative Breast Cancer.
    • Huang X, Shao D, Wu H, Zhu C, Guo D, Zhou Y, Chen C, Lin Y, Lu T, Zhao B, Wang C, Sun Q.
    • Front Oncol. 2020 Oct 30;10:583314. doi: 10.3389/fonc.2020.583314. PMID: 33194720; PMCID: PMC7662137.
    • Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants.
    • Inagaki-Kawata Y, Yoshida K, Kawaguchi-Sakita N, Kawashima M, Nishimura T, Senda N, Shiozawa Y, Takeuchi Y, Inoue Y, Sato-Otsubo A, Fujii Y, Nannya Y, Suzuki E, Takada M, Tanaka H, Shiraishi Y, Chiba K, Kataoka Y, Torii M, Yoshibayashi H, Yamagami K, Okamura R, Moriguchi Y, Kato H, Tsuyuki S, Yamauchi A, Suwa H, Inamoto T, Miyano S, Ogawa S, Toi M.
    • Commun Biol. 2020 Oct 16;3(1):578. doi: 10.1038/s42003-020-01301-9.
    • Pulmonary metastasis secondary to abiraterone-resistant prostate cancer with homozygous deletions of BRCA2: First Japanese case.
    • Izawa M, Kosaka T, Nakamura K, Oba J, Hishida T, Hongo H, Mikami S, Nishihara H, Oya M.
    • IJU Case Rep. 2020 Oct 15;4(1):14-17. doi: 10.1002/iju5.12224.
    • ESMO recommendations on predictive biomarker testing for homologous recombination deficiency and PARP inhibitor benefit in ovarian cancer.
    • Miller RE, Leary A, Scott CL, Serra V, Lord CJ, Bowtell D, Chang DK, Garsed DW, Jonkers J, Ledermann JA, Nik-Zainal S, Ray-Coquard I, Shah SP, Matias-Guiu X, Swisher EM, Yates LR.
    • Ann Oncol. 2020 Sep 28:S0923-7534(20)42164-7. doi: 10.1016/j.annonc.2020.08.2102. Epub ahead of print.
    • First-in-Human Trial of the Oral Ataxia Telangiectasia and Rad3-Related Inhibitor BAY 1895344 in Patients with Advanced Solid Tumors.
    • Yap TA, Tan DSP, Terbuch A, Caldwell R, Guo C, Goh BC, Heong V, Haris NR, Bashir S, Drew Y, Hong DS, Meric-Bernstam F, Wilkinson G, Hreiki J, Wengner AM, Bladt F, Schlicker A, Ludwig M, Zhou Y, Liu L, Bordia S, Plummer R, Lagkadinou E, de Bono JS.
    • Cancer Discov. 2020 Sep 28. doi: 10.1158/2159-8290.CD-20-0868. Epub ahead of print.

    Related:

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

    • A novel signature of two long non-coding RNAs in BRCA mutant ovarian cancer to predict prognosis and efficiency of chemotherapy.
    • Pan Y, Jia LP, Liu Y, Han Y, Li Q, Zou Q, Zhang Z, Huang J, Deng Q.
    • J Ovarian Res. 2020 Sep 19;13(1):112. doi: 10.1186/s13048-020-00712-w.
    • Predicted chemotherapy benefit for breast cancer patients with germline pathogenic variants in cancer susceptibility genes.
    • Kurian AW, Ward KC, Abrahamse P, Hamilton AS, Katz SJ.
    • JNCI Cancer Spectr. 2020 Sep 18; pkaa083. doi: 10.1093/jncics/pkaa083. eCollection 2020 Sep.
    • What is the role of PARP inhibitors in pancreatic cancer?
    • Halder R, T Shroff R.
    • Expert Rev Anticancer Ther. 2020 Sep 11:1-6. doi: 10.1080/14737140.2020.1816174. Epub ahead of print.
    • Implementing NGS-based BRCA tumour tissue testing in FFPE ovarian carcinoma specimens: hints from a real-life experience within the framework of expert recommendations.
    • Rivera D, Paudice M, Gismondi V, Anselmi G, Vellone VG, Varesco L; Ligurian BRCA Working Group.
    • J Clin Pathol. 2020 Sep 7:jclinpath-2020-206840. doi: 10.1136/jclinpath-2020-206840. Epub ahead of print.
    • FoundationOne® CDx gene profiling in Japanese pancreatic ductal adenocarcinoma patients: a single-institution experience.
    • Kimura R, Ohtsuka T, Kubo M, Kajihara A, Fujii A, Watanabe Y, Mori Y, Ikenaga N, Nakata K, Shindo K, Ohuchida K, Nakamura M.
    • Surg Today. 2020 Sep 4. doi: 10.1007/s00595-020-02123-2. Epub ahead of print.
    • Molecular Biomarkers for Early Detection and Prevention of Ovarian Cancer-A Gateway for Good Prognosis: A Narrative Review.
    • Yadav G, Vashisht M, Yadav V, Shyam R.
    • Int J Prev Med. 2020 Sep 3;11:135. doi: 10.4103/ijpvm.IJPVM_75_19.
    • Biomarkers in Breast Cancer: An Integrated Analysis of Comprehensive Genomic Profiling and PD-L1 Immunohistochemistry Biomarkers in 312 Patients with Breast Cancer.
    • Huang RSP, Li X, Haberberger J, Sokol E, Severson E, Duncan DL, Hemmerich A, Edgerly C, Ferguson NL, Williams E, Elvin J, Vergilio JA, Killian JK, Lin D, Hiemenz M, Xiao J, McEwan D, Holmes O, Danziger N, Erlich R, Frampton G, Cohen MB, McGregor K, Reddy P, Cardeiro D, Anhorn R, Venstrom PJ, Alexander B, Brown C, Pusztai L, Ross JS, Ramkissoon SH.
    • Oncologist. 2020 Sep 1. doi: 10.1634/theoncologist.2020-0449. Epub ahead of print.
    • Moving Beyond BRCA - Incorporating Molecular Assays into Ovarian Cancer trials.
    • McMullen M, Karakasis K, Oza AM.
    • Clin Cancer Res. 2020 Aug 14. doi: 10.1158/1078-0432.CCR-20-2429. Epub ahead of print.
    • News
    • Somatic BRCA Mutation in a Cholangiocarcinoma Patient for HBOC Syndrome Detection.
    • Paradiso AV, Patruno M, Digennaro M, Tommasi S, Pilato B, Argentiero A, Brunetti O, Silvestris N.
    • Front Oncol. 2020 Aug 12;10:1292. doi: 10.3389/fonc.2020.01292.
    • BRCA sequencing of tumors: understanding its implications in the oncology community.
    • Wong RSJ, Lee SC.
    • Chin Clin Oncol. 2020 Aug 10:cco-19-198. doi: 10.21037/cco-19-198. Epub ahead of print.
    • Patient-derived ovarian cancer organoids capture the genomic profiles of primary tumours applicable for drug sensitivity and resistance testing.
    • Nanki Y, Chiyoda T, Hirasawa A, Ookubo A, Itoh M, Ueno M, Akahane T, Kameyama K, Yamagami W, Kataoka F, Aoki D.
    • Sci Rep. 2020 Jul 28;10(1):12581. doi: 10.1038/s41598-020-69488-9.
    • Homologous repair deficiency score for identifying breast cancers with defective DNA damage response.
    • Min A, Kim K, Jeong K, Choi S, Kim S, Suh KJ, Lee KH, Kim S, Im SA.
    • Sci Rep. 2020 Jul 27;10(1):12506. doi: 10.1038/s41598-020-68176-y.
    • BRCAness digitalMLPA profiling predicts benefit of intensified platinum-based chemotherapy in triple-negative and luminal-type breast cancer.
    • Lips EH, Benard-Slagter A, Opdam M, Scheerman CE, Wesseling J, Hogervorst FBL, Linn SC, Savola S, Nederlof PM.
    • Breast Cancer Res. 2020 Jul 25;22(1):79. doi: 10.1186/s13058-020-01313-7.
    • PARP Inhibitor Resistance Mechanisms and Implications for Post-Progression Combination Therapies.
    • Lee EK, Matulonis UA.
    • Cancers (Basel). 2020 Jul 25;12(8):E2054. doi: 10.3390/cancers12082054.
    • Disclosure of secondary findings in exome sequencing of 2480 Japanese cancer patients.
    • Horiuchi Y, Matsubayashi H, Kiyozumi Y, Nishimura S, Higashigawa S, Kado N, Nagashima T, Mizuguchi M, Ohnami S, Arai M, Urakami K, Kusuhara M, Yamaguchi K.
    • Hum Genet. 2020 Jul 24. doi: 10.1007/s00439-020-02207-6. Epub ahead of print.
    • Clinical implications of breast cancer tumor genomic testing.
    • Damodaran S, Sember QC, Arun BK.
    • Breast J. 2020 Jul 22. doi: 10.1111/tbj.13966. Epub ahead of print.
    • Clinical BRCA1/2 reversion analysis identifies hotspot mutations and predicted neoantigens associated with therapy resistance.
    • Pettitt SJ, Frankum JR, Punta M, Lise S, Alexander J, Chen Y, Yap TA, Haider S, Tutt ANJ, Lord CJ.
    • Cancer Discov. 2020 Jul 22:CD-19-1485. doi: 10.1158/2159-8290.CD-19-1485. Epub ahead of print.
    • Clinical characteristics and exploratory genomic analyses of germline BRCA1 or BRCA2 mutations in breast cancer.
    • Park S, Lee E, Park S, Lee S, Nam SJ, Kim SW, Lee JE, Yu JH, Kim JY, Ahn JS, Im YH, Park WY, Park K, Park YH.
    • Mol Cancer Res. 2020 Jun 17:molcanres.1108.2019. doi: 10.1158/1541-7786.MCR-19-1108. Epub ahead of print.
    • Feasibility of tumor testing for BRCA status in high-grade serous ovarian cancer using fresh-frozen tissue based approach.
    • Marchetti C, Minucci A, D'Indinosante M, Ergasti R, Arcieri M, Capoluongo ED, Pietragalla A, Caricato C, Scambia G, Fagotti A.
    • Gynecol Oncol. 2020 Jun 15:S0090-8258(20)32294-0. doi: 10.1016/j.ygyno.2020.06.479. Epub ahead of print.
    • Simple prediction model for homologous recombination deficiency in breast cancers in adolescents and young adults.
    • Watanabe T, Honda T, Totsuka H, Yoshida M, Tanioka M, Shiraishi K, Shimada Y, Arai E, Ushiama M, Tamura K, Yoshida T, Kanai Y, Kohno T.
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    • Germline Testing In Advanced Cancer Can Lead to Targeted Tx.
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    • Medscape. Conference News. 2020 Jun 2.
    • Germline Insights from NGS Somatic Testing: Clinical Challenges and Controversies.
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    • Precision Oncology News. Resources: Webinars. 2020 Jun 1.
    • Establishing a framework for the clinical translation of germline findings in precision oncology.
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    • JNCI Cancer Spectr. 2020 May 29; pkaa045. doi: 10.1093/jncics/pkaa045. eCollection 2020 May.
    • Homologous recombination DNA repair deficiency and PARP inhibition activity in primary triple negative breast cancer.
    • Chopra N, Tovey H, Pearson A, Cutts R, Toms C, Proszek P, Hubank M, Dowsett M, Dodson A, Daley F, Kriplani D, Gevensleben H, Davies HR, Degasperi A, Roylance R, Chan S, Tutt A, Skene A, Evans A, Bliss JM, Nik-Zainal S, Turner NC.
    • Nat Commun. 2020 May 29;11(1):2662. doi: 10.1038/s41467-020-16142-7.
    • Constitutional mosaicism for a BRCA2 mutation as a cause of early-onset breast cancer.
    • Alhopuro P, Vainionpää R, Anttonen AK, Aittomäki K, Nevanlinna H, Pöyhönen M.
    • Fam Cancer. 2020 May 28. doi: 10.1007/s10689-020-00186-1. Epub ahead of print.
    • 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.
    • Mazzuccato G, De Bonis M, Carboni V, Marchetti C, Urbani A, Scambia G, Capoluongo E, Fagotti A, Minucci A.
    • Mol Biol Rep. 2020 May 28. doi: 10.1007/s11033-020-05504-5. Epub ahead of print.
    • Genetic Testing Challenges in Oncology: Missed Mutations Highlight Somatic, Germline Test Difference.
    • Ray T.
    • Precision Oncology News. 2020 May 26.
    • High-throughput functional evaluation of BRCA2 variants of unknown significance.
    • Ikegami M, Kohsaka S, Ueno T, Momozawa Y, Inoue S, Tamura K, Shimomura A, Hosoya N, Kobayashi H, Tanaka S, Mano H.
    • Nat Commun. 2020 May 22;11(1):2573. doi: 10.1038/s41467-020-16141-8.
    • Q&A: ACMG Work Group Hoping to Spark Discussion on Reporting Germline Findings From Tumor Testing.
    • Ray T.
    • Precision Oncology News. 2020 May 21.
    • News

    Related:

    Guidelines:

    Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG).

    • 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.

    Related:

    News: Update: PARP inhibitors, rucaparib (Rubraca) and olaparib (Lynparza) receive FDA approval for metastatic prostate cancer (FORCE. XRAYS.)

    • Biomarker-Guided Development of DNA Repair Inhibitors.
    • Cleary JM, Aguirre AJ, Shapiro GI, D'Andrea AD.
    • Mol Cell. 2020 May 17:S1097-2765(20)30277-X. doi: 10.1016/j.molcel.2020.04.035. Epub ahead of print.
    • Review
    • Combined CCNE1 high-level amplification and overexpression is associated with unfavourable outcome in tubo-ovarian high-grade serous carcinoma.
    • Chan AM, Enwere E, McIntyre JB, Wilson H, Nwaroh C, Wiebe N, Ou Y, Liu S, Wiedemeyer K, Rambau PF, Grevers X, Morris DG, Neri P, Gilks CB, Visser F, Le N, Luo L, Cook LS, Köbel M.
    • J Pathol Clin Res. 2020 May 11. doi: 10.1002/cjp2.168. Epub ahead of print.
    • The Impact of Whole Genome Data on Therapeutic Decision-Making in Metastatic Prostate Cancer: A Retrospective Analysis.
    • Crumbaker M, Chan EKF, Gong T, Corcoran N, Jaratlerdsiri W, Lyons RJ, Haynes AM, Kulidjian AA, Kalsbeek AMF, Petersen DC, Stricker PD, Jamieson CAM, Croucher PI, Hovens CM, Joshua AM, Hayes VM.
    • Cancers (Basel). 2020 May 7;12(5):E1178. doi: 10.3390/cancers12051178.
    • Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG).
    • 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.

    Related:

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

    • Positron Emission Tomography Imaging of Poly-(Adenosine Diphosphate-Ribose) Polymerase 1 Expression in Breast Cancer: A Nonrandomized Clinical Trial.
    • McDonald ES, Doot RK, Pantel AR, Farwell MD, Mach RH, Maxwell KN, Mankoff DA.
    • JAMA Oncol. 2020 Apr 16. doi: 10.1001/jamaoncol.2020.0334. [Epub ahead of print]
    • Clinical Impact of Somatic Variants in Homologous Recombination Repair-Related Genes in Ovarian High-Grade Serous Carcinoma.
    • Choi MC, Hwang S, Kim S, Jung SG, Park H, Joo WD, Song SH, Lee C, Kim TH, Kang H, An HJ.
    • Cancer Res Treat. 2020 Apr;52(2):634-644. doi: 10.4143/crt.2019.207. Epub 2020 Jan 6.
    • An immune-centric exploration of BRCA1 and BRCA2 germline mutation related breast and ovarian cancers.
    • Przybytkowski E, Davis T, Hosny A, Eismann J, Matulonis UA, Wulf GM, Nabavi S.
    • BMC Cancer. 2020 Mar 12;20(1):197. doi: 10.1186/s12885-020-6605-1.
    • Mutation landscape of germline and somatic BRCA1/2 in patients with high-grade serous ovarian cancer.
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    • BMC Cancer. 2020 Mar 12;20(1):204. doi: 10.1186/s12885-020-6693-y.
    • Germline and Somatic BRCA1/2 Mutations in 172 Chinese Women With Epithelial Ovarian Cancer.
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    • Front Oncol. 2020 Mar 10;10:295. doi: 10.3389/fonc.2020.00295. eCollection 2020.
    • Involving patients and their families in deciding to use next generation sequencing: Results from a nationally representative survey of U.S. oncologists.
    • Spees LP, Roberts MC, Freedman AN, Butler EN, Klein WMP, Prabhu Das I, de Moor JS.
    • Patient Educ Couns. 2020 Mar 3. pii: S0738-3991(20)30116-6. doi: 10.1016/j.pec.2020.03.001. [Epub ahead of print]
    • Somatic mRNA Analysis of BRCA1 Splice Variants Provides a Direct Theranostic Impact on PARP Inhibitors.
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    • Mol Diagn Ther. 2020 Mar 2. doi: 10.1007/s40291-020-00452-z. [Epub ahead of print]
    • A profile on the FoundationFocus CDxBRCA tests.
    • Ford L, Wolford JE, Brown SM, Randall LM.
    • Expert Rev Mol Diagn. 2020 Mar;20(3):285-292. doi: 10.1080/14737159.2020.1701438. Epub 2020 Feb 6.
    • Review
    • Precision Medicine Tumor Boards: Clinical Applicability of Personalized Treatment Concepts in Ovarian Cancer.
    • Aust S, Schwameis R, Gagic T, Müllauer L, Langthaler E, Prager G, Grech C, Reinthaller A, Krainer M, Pils D, Grimm C, Polterauer S.
    • Cancers (Basel). 2020 Feb 27;12(3). pii: E548. doi: 10.3390/cancers12030548.
    • Detection of molecular signatures of homologous recombination deficiency in prostate cancer with or without BRCA1/2 mutations.
    • Sztupinszki Z, Diossy M, Krzystanek M, Börcsök , Pomerantz MM, Tisza V, Spisák S, Rusz O, Csabai I, Freedman ML, Szallasi Z.
    • Clin Cancer Res. 2020 Feb 18. pii: clincanres.2135.2019. doi: 10.1158/1078-0432.CCR-19-2135. [Epub ahead of print]
    • Despite Barriers, Labs Starting to Report Suspected Cancer Risk Mutations Seen in Tumor Testing.
    • Ray T.
    • GenomeWeb. 2020 Feb 6.
    • Understanding and information needs of cancer patients regarding treatment-focused genomic testing: A systematic review.
    • Wolyniec K, Sharp J, Lazarakis S, Mileshkin L, Schofield P.
    • Psychooncology. 2020 Feb 5. doi: 10.1002/pon.5351. [Epub ahead of print]
    • Review
    • Personalized Treatment Approach to Metastatic Castration-Resistant Prostate Cancer with BRCA2 and PTEN Mutations: A Case Report.
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    • Case Rep Oncol. 2020 Feb 4;13(1):55-61. doi: 10.1159/000505182. eCollection 2020 Jan-Apr.
    • BRCA Mutation Association with Recurrence Score and Discordance in a Large Oncotype Database.
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    • Oncology. 2020 Jan 21:1-4. doi: 10.1159/000504965. [Epub ahead of print]
    • Germline and somatic mutations in prostate cancer: focus on defective DNA repair, PARP inhibitors and immunotherapy.
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    • Review, Commentary
    • Simultaneous germline and somatic sequencing in ovarian carcinoma: mutation rate and impact on clinical decision-making.
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    • Gynecol Oncol. 2019 Dec 27. pii: S0090-8258(19)31802-5. doi: 10.1016/j.ygyno.2019.12.010. [Epub ahead of print]
    • Chemotherapy combined with bevacizumab for the treatment of advanced lung adenocarcinoma cancer harboring EGFR-ANXA2, EGFR-RAD51, ATR and BRCA2 mutations: A case report.
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    • Thorac Cancer. 2019 Dec 22. doi: 10.1111/1759-7714.13286. [Epub ahead of print]
    • Expression of the Immune Checkpoints LAG-3 and PD-L1 in High-grade Serous Ovarian Carcinoma: Relationship to Tumor-associated Lymphocytes and Germline BRCA Status.
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    • Int J Gynecol Pathol. 2019 Dec 16. doi: 10.1097/PGP.0000000000000657. [Epub ahead of print]
    • BRCA1 Promoter Methylation Status in 1031 Primary Breast Cancers Predicts Favorable Outcomes Following Chemotherapy.
    • Stefansson OA, Hilmarsdottir H, Olafsdottir K, Tryggvadottir L, Sverrisdottir A, Johannsson OT, Jonasson JG, Eyfjord JE, Sigurdsson S.
    • JNCI Cancer Spectr. 2019 Dec 11;4(2):pkz100. doi: 10.1093/jncics/pkz100. eCollection 2020 Apr.
    • Cancer Susceptibility Mutations in Patients With Urothelial Malignancies.
    • Carlo MI, Ravichandran V, Srinavasan P, Bandlamudi C, Kemel Y, Ceyhan-Birsoy O, Mukherjee S, Mandelker D, Chaim J, Knezevic A, Rana S, Fnu Z, Breen K, Arnold AG, Khurram A, Tkachuk K, Cipolla CK, Regazzi A, Hakimi AA, Al-Ahmadie H, Dalbagni G, Cadoo KA, Walsh MF, Teo MY, Funt SA, Coleman JA, Bochner BH, Iyer G, Solit DB, Stadler ZK, Zhang L, Rosenberg JE, Taylor BS, Robson ME, Berger MF, Vijai J, Bajorin DF, Offit K.
    • J Clin Oncol. 2019 Dec 3:JCO1901395. doi: 10.1200/JCO.19.01395. [Epub ahead of print]
    • 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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    • Virchows Arch. 2019 Dec 3. doi: 10.1007/s00428-019-02709-3. [Epub ahead of print]
    • Genomic Profile and BRCA-1 Promoter Methylation Status in BRCA Mutated Ovarian Cancer: New Insights in Predictive Biomarkers of Olaparib Response.
    • Franzese E, Centonze S, Diana A, Lombardi A, Carlino F, Guerrera LP, De Vita F, Caraglia M, Pignata S, Ciardiello F, Orditura M.
    • Front Oncol. 2019 Nov 29;9:1289. doi: 10.3389/fonc.2019.01289. eCollection 2019.
    • Bevacizumab As Maintenance Treatment in Patients With Ovarian Cancer: Wait for BRCA Testing.
    • Farolfi A, Lorusso D, Pignata S, De Giorgi U.
    • 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.
    • Capoluongo E, Verde N, Barberis M, Bella MA, Buttitta F, Carrera P, Colombo N, Cortesi L, Gion M, Guarneri V, 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, Gori S.
    • 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.
    • Conrad LB, Lin KY, Nandu T, Gibson BA, Lea JS, Kraus WL.
    • Mol Cancer Ther. 2019 Oct 8. pii: molcanther.0569.2019. doi: 10.1158/1535-7163.MCT-19-0569. [Epub ahead of print]
    • Health outcomes, utility and costs of returning incidental results from genomic sequencing in a Canadian cancer population: protocol for a mixed-methods randomised controlled trial.
    • Shickh S, Clausen M, Mighton C, Gutierrez Salazar M, Zakoor KR, Kodida R, Reble E, Elser C, Eisen A, Panchal S, Aronson M, Graham T, Armel SR, Morel CF, Fattouh R, Glogowski E, Schrader KA, Hamilton JG, Offit K, Robson M, Carroll JC, Isaranuwatchai W, Kim RH, Lerner-Ellis J, Thorpe KE, Laupacis A, Bombard Y; Incidental Genomics Study Team.
    • BMJ Open. 2019 Oct 7;9(10):e031092. doi: 10.1136/bmjopen-2019-031092.
    • 'Landmark' Trial in Prostate Cancer With Mutations.
    • Davenport L.
    • Medscape Oncology. 2019 Oct 4.
    • Integrating a Next Generation Sequencing Panel into Clinical Practice in Ovarian Cancer.
    • Lee YJ, Kim D, Kim HS, Na K, Lee JY, Nam EJ, Kim SW, Kim S, Kim YT.
    • Yonsei Med J. 2019 Oct;60(10):914-923. doi: 10.3349/ymj.2019.60.10.914.
    • Can somatic BRCA2 status solve a case of olaparib monotherapy resistance?
    • Pietragalla A, Minucci A, Marchetti C, Scambia G, Fagotti A.
    • Int J Gynecol Cancer. 2019 Sep 19. pii: ijgc-2019-000757. doi: 10.1136/ijgc-2019-000757. [Epub ahead of print]
    • Next-generation sequencing-based BRCA testing on cytological specimens from ovarian cancer ascites reveals high concordance with tumour tissue analysis.
    • Fumagalli C, Rappa A, Casadio C, Betella I, Colombo N, Barberis M, Guerini-Rocco E.
    • J Clin Pathol. 2019 Sep 19. pii: jclinpath-2019-206127. doi: 10.1136/jclinpath-2019-206127. [Epub ahead of print]
    • Available and emerging molecular markers in the clinical management of breast cancer.
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    • Expert Rev Mol Diagn. 2019 Sep 9. doi: 10.1080/14737159.2019.1664901. [Epub ahead of print]
    • Review
    • Inherited cancer syndromes in 220 Italian ovarian cancer patients.
    • Carnevali I, Riva C, Chiaravalli AM, Sahnane N, Di Lauro E, Viel A, Rovera F, Formenti G, Ghezzi F, Sessa F, Tibiletti MG.
    • Cancer Genet. 2019 Sep;237:55-62. doi: 10.1016/j.cancergen.2019.06.005. Epub 2019 Jun 12.
    • Precision medicine for metastatic colorectal cancer: an evolving era.
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    • Expert Rev Gastroenterol Hepatol. 2019 Aug 31. doi: 10.1080/17474124.2019.1663174. [Epub ahead of print]
    • Review
    • Germline and somatic mutations of multi-gene panel in Chinese patients with epithelial ovarian cancer: a prospective cohort study.
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    • J Ovarian Res. 2019 Aug 31;12(1):80. doi: 10.1186/s13048-019-0560-y.
    • 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.
    • Clin Breast Cancer. 2019 Aug 21. pii: S1526-8209(19)30646-9. doi: 10.1016/j.clbc.2019.07.004. [Epub ahead of print]
    • BRCA1/2 somatic mutation detection in formalin-fixed paraffin embedded tissue by next-generation sequencing in Korean ovarian cancer patients.
    • Lee A, Kang J, Lee H, Lee YS, Choi YJ, Lee KH, Nistala GJ, Scafe CR, Choi J, Yoo J, Han M D E, Kim Y, Kim M.
    • Pathol Res Pract. 2019 Aug 16:152595. doi: 10.1016/j.prp.2019.152595. [Epub ahead of print]
    • 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.
    • Kim Y, Cho CH, Ha JS, Kim DH, Kwon SY, Oh SC, Lee KA.
    • J Gynecol Oncol. 2019 Aug 6. doi: 10.3802/jgo.2020.31.e9. [Epub ahead of print]
    • Genomics applied to the treatment of breast cancer.
    • Hamdan D, Nguyen TT, Leboeuf C, Meles S, Janin A, Bousquet G.
    • Oncotarget. 2019 Jul 30;10(46):4786-4801. doi: 10.18632/oncotarget.27102. eCollection 2019 Jul 30.
    • 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]
    • 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.

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    • J Natl Cancer Inst. 2019 May 11. pii: djz080. doi: 10.1093/jnci/djz080. [Epub ahead of print]

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    Letter, Comment:

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

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    Related:

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

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    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.
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    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.
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    • Cancer Discov. 2017 Sep;7(9):984-998. doi: 10.1158/2159-8290.CD-17-0419. Epub 2017 Jun 6.

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    • 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.
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    • NHERF1 together with PARP1 and BRCA1 expression as a new potential biomarker to stratify breast cancer patients.
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    • Characterizing Molecular Variants and Clinical Utilization of Next-generation Sequencing in Advanced Breast Cancer.
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    Related:

    Editorial / Commentary

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

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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)

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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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    • Different Array CGH profiles within hereditary breast cancer tumors associated to BRCA1 expression and overall survival.
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    • 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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    • 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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    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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