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 Oct 23, 2020 @ 2:18 am.


    • 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.
    • 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.
    • Breast Cancer Res Treat. 2020 Jun 3. doi: 10.1007/s10549-020-05716-0. Epub ahead of print.
    • Germline Testing In Advanced Cancer Can Lead to Targeted Tx.
    • Nelson R.
    • Medscape. Conference News. 2020 Jun 2.
    • Germline Insights from NGS Somatic Testing: Clinical Challenges and Controversies.
    • Matloff ET, Giri VN, Nowak JA, Sotelo J, Silver DP.
    • Precision Oncology News. Resources: Webinars. 2020 Jun 1.
    • Establishing a framework for the clinical translation of germline findings in precision oncology.
    • Dixon K, Young S, Shen Y, Thibodeau ML, Fok A, Pleasance E, Zhao E, Jones M, Aubert G, Armstrong L, Virani A, Regier D, Gelmon K, Renouf D, Chia S, Bosdet I, Rassekh SR, Deyell RJ, Yip S, Fisic A, Titmuss E, Abadi S, Jones SJM, Sun S, Karsan A, Marra M, Laskin J, Lim H, Schrader KA.
    • 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.
    • Eoh KJ, Kim HM, Lee JY, Kim S, Kim SW, Kim YT, Nam EJ.
    • 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.
    • You Y, Li L, Lu J, Wu H, Wang J, Gao J, Wu M, Liang Z.
    • 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.
    • Chevalier LM, Billaud A, Fronteau S, Dauvé J, Patsouris A, Verriele V, Morel A.
    • 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.
    • Julka PK, Verma A, Gupta K.
    • 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.
    • Blanter J, Zimmerman B, Tharakan S, Ru M, Cascetta K, Tiersten A.
    • 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.
    • Cimadamore A, Lopez-Beltran A, Massari F, Santoni M, Mazzucchelli R, Scarpelli M, Galosi AB, Cheng L, Montironi R.
    • Future Oncol. 2020 Jan 9. doi: 10.2217/fon-2019-0745. [Epub ahead of print]
    • Review, Commentary
    • Simultaneous germline and somatic sequencing in ovarian carcinoma: mutation rate and impact on clinical decision-making.
    • Jorge S, McFaddin AS, Doll KM, Pennington KP, Norquist BM, Bennett RL, Pritchard CC, Swisher EM.
    • 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.
    • Zhong R, Li H1, Liu Y, Zhang S, Liu J, Huang Z, Cheng Y.
    • 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.
    • Whitehair R, Peres LC, Mills AM.
    • 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).
    • Palacios J, de la Hoya M, Bellosillo B, de Juan I, Matías-Guiu X, Lázaro C, Palanca S, Osorio A, Rojo F, Rosa-Rosa JM, Cigudosa JC.
    • 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.
    • Tischler J, Crew KD, Chung WK.
    • 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.
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    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.
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    • FoundationOne CDx Approved as Companion Diagnostic to Lynparza in Ovarian Cancer.
    • [No author given.]
    • Clinical Omics. 2019 Jul 3.
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    • GenomeWeb. 2019 Jun 19.
    • Final Overall Survival of a Randomized Trial of Bevacizumab for Primary Treatment of Ovarian Cancer.
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    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.
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    • Recommendations for the implementation of BRCA testing in ovarian cancer patients and their relatives.
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    • Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.
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    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.
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    • Germline Genetic Testing: What the Breast Surgeon Needs to Know.
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    • Cytology material is equivalent to tumor tissue in determining mutations of BRCA 1/2 genes in patients with tubo-ovarian high grade serous carcinoma.
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    • U.S. Food and Drug Administration-Approved Poly (ADP-Ribose) Polymerase Inhibitor Maintenance Therapy for Recurrent Ovarian Cancer: A Cost-Effectiveness Analysis.
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    • 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.
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    • 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)

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

    Related:

    Research news:

    Olaparib and somatic BRCA mutations.

    • Characterizing Molecular Variants and Clinical Utilization of Next-generation Sequencing in Advanced Breast Cancer.
    • Gurda GT, Ambros T, Nikiforova MN, Nikiforov YE, Lucas PC, Dabbs DJ, Lee AV, Brufsky AM, Puhalla SL, Bhargava R.
    • Appl Immunohistochem Mol Morphol. 2017 Jul;25(6):392-398. doi: 10.1097/PAI.0000000000000322.
    • Treatment Outcomes and Tumor Loss of Heterozygosity in Germline DNA Repair-deficient Prostate Cancer.
    • 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.
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    • J Neurooncol. 2017 Jul;133(3):469-476. doi: 10.1007/s11060-017-2459-z. Epub 2017 May 11.
    • Analysis of BRCA1/2 mutation spectrum and prevalence in unselected Chinese breast cancer patients by next-generation sequencing.
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    • J Cancer Res Clin Oncol. 2017 Jun 29. doi: 10.1007/s00432-017-2465-8. [Epub ahead of print]
    • BRCA1 reversion mutation acquired after treatment identified by liquid biopsy.
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    • Gynecol Oncol Rep. 2017 Jun 21;21:57-60. doi: 10.1016/j.gore.2017.06.010. eCollection 2017 Aug.
    • Metastatic Breast Cancer with BRCA Mutation Discovered By Next-Generation Sequencing Responding to Olaparib.
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    • Cureus. 2017 Jun 11;9(6):e1337. doi: 10.7759/cureus.1337.
    • DNA repair genes PAXIP1 and TP53BP1 expression is associated with breast cancer prognosis.
    • De Gregoriis G, Ramos JA, Fernandes PV, Vignal GM, Brianese RC, Carraro DM, Monteiro AN, Struchiner C, Suarez-Kurtz G, Vianna-Jorge R, de Carvalho MA.
    • Cancer Biol Ther. 2017 Jun 3;18(6):439-449. doi: 10.1080/15384047.2017.1323590. Epub 2017 May 5.
    • Guidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer Patients.
    • Capoluongo E, Ellison G, López-Guerrero JA, Penault-Llorca F, Ligtenberg MJL, Banerjee S, Singer C, Friedman E, Markiefka B, Schirmacher P, Büttner R, van Asperen CJ, Ray-Coquard I, Endris V, Kamel-Reid S, Percival N, Bryce J, Röthlisberger B, Soong R, de Castro DG.
    • Semin Oncol. 2017 Jun;44(3):187-197. doi: 10.1053/j.seminoncol.2017.08.004. Epub 2017 Sep 15.
    • BRCA promoter methylation in sporadic versus BRCA germline mutation-related breast cancers.
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    • Genomic Testing and Precision Medicine in Cancer Care.
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    • Oncotype Dx recurrence score among BRCA1/2 germline mutation carriers with hormone receptors positive breast cancer.
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    • 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.
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    • 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

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    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.
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    • Cancer Chemother Pharmacol. 2016 Dec;78(6):1101-1111. Epub 2016 Jun 1.
    • Review
    • BRCA1 expression in benign and malignant breast lesions.
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    • Population Frequency of Germline BRCA1/2 Mutations.
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    • 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].
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    • Cesk Patol. 2016 Fall;52(4):193-196.
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    • 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.
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    • 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.
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    • 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.
    • Zografos E, Gazouli M, Tsangaris G, Marinos E.
    • Cancer Genomics Proteomics. 2016 05-06 [2016 May-Jun;]13(3):183-190.
    • How Far Do We Go With Genetic Evaluation? Gene, Panel, and Tumor Testing.
    • Lynce F, Isaacs C.
    • Am Soc Clin Oncol Educ Book. 2016 May;(36):e72-e78. doi: 10.1200/EDBK_160391.
    • Twenty-one-gene recurrence score assay in BRCA-associated versus sporadic breast cancers: Differences based on germline mutation status.
    • Shah PD, Patil S, Dickler MN, Offit K, Hudis CA, Robson ME.
    • Cancer. 2016 Apr 15;122(8):1178-1184. doi: 10.1002/cncr.29903. Epub 2016 Feb 9.
    • Different Array CGH profiles within hereditary breast cancer tumors associated to BRCA1 expression and overall survival.
    • Alvarez C, Aravena A, Tapia T, Rozenblum E, Solís L, Corvalán A, Camus M, Alvarez M, Munroe D, Maass A, Carvallo P.
    • 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.
    • Villalona-Calero MA, Duan W, Zhao W, Shilo K, Schaaf LJ, Thurmond J, Westman JA, Marshall J, Xiaobai L, Ji J, Rose J, Lustberg M, Bekaii-Saab T, Chen A, Timmers C.
    • 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.
    • Mafficini A, Simbolo M, Parisi A, Rusev B, Luchini C, Cataldo I, Piazzola E, Sperandio N, Turri G, Franchi M, Tortora G, Bovo C, Lawlor RT, Scarpa A.
    • 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.
    • Lambrechts S, Smeets D, Moisse M, Braicu EI, Vanderstichele A, Zhao H, Van Nieuwenhuysen E, Berns E, Sehouli J, Zeillinger R, Darb-Esfahani S, Cacsire Castillo-Tong D, Lambrechts D, Vergote I.
    • Eur J Cancer. 2016 Jan;53:51-64. doi: 10.1016/j.ejca.2015.11.001. Epub 2015 Dec 13.
    • 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.
    • Konstantinopoulos PA, Ceccaldi R, Shapiro GI, D'Andrea AD.
    • Cancer Discov. 2015 Nov;5(11):1137-54. doi: 10.1158/2159-8290.CD-15-0714. Epub 2015 Oct 13.
    • 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.
    • Breast Cancer Res Treat. 2015 Sep;153(2):435-43. doi: 10.1007/s10549-015-3545-6. Epub 2015 Aug 22.
    • 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]
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    Related:

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

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    Related:

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

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