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 Dec 5, 2019 @ 4:08 am.


    • 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]
    • 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.
    • 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.
    • Giridhar KV, Liu MC.
    • 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.
    • Guler I, Askan G, Klostergaard J, Sahin IH.
    • 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.
    • Li W, Shao D, Li L, Wu M, Ma S, Tan X, Zhong S, Guo F, Wang Z, Ye M.
    • 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.

    • 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.

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

    Related:

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

    • BRCA mutation testing for ovarian cancer in the context of available targeted therapy: Survey and consensus of Hong Kong specialists.
    • Kwong A, Cheng KD, Hsue CV, Hui SK, Leung CR, Leung KA, Ngan KR, Soong SI.
    • Asia Pac J Clin Oncol. 2019 Mar;15 Suppl 2:20-31. doi: 10.1111/ajco.13116. Epub 2019 Mar 6.
    • [A Case of Early-Onset Breast Cancer for Which the Operative Indication for Breast Conservation Was Based on BRCA Genetic Testing].
    • Oki T, Sugimoto T, Ogawa M, Dabanaka K, Hanazaki K.
    • Gan To Kagaku Ryoho. 2019 Mar;46(3):555-557.
    • Case report, [Article in Japanese]
    • Update Breast Cancer 2019 Part 2 - Implementation of Novel Diagnostics and Therapeutics in Advanced Breast Cancer Patients in Clinical Practice.
    • Janni W, Schneeweiss A, Müller V, Wöckel A, Lux MP, Hartkopf AD, Nabieva N, Taran FA, Tesch H, Overkamp F, Lüftner D, Belleville E, Schütz F, Fasching PA, Fehm TN, Kolberg HC, Ettl J.
    • Geburtshilfe Frauenheilkd. 2019 Mar;79(3):268-280. doi: 10.1055/a-0842-6661. Epub 2019 Mar 12.
    • Combined Targeted Resequencing of Cytosine DNA Methylation and Mutations of DNA Repair Genes with Potential Use for Poly(ADP-Ribose) Polymerase 1 Inhibitor Sensitivity Testing.
    • Grimm C, Fischer A, Farrelly AM, Kalachand R, Castiglione R, Wasserburger E, Hussong M, Schultheis AM, Altmüller J, Thiele H, Reinhardt HC, Hauschulz K, Hennessy BT, Herwig R, Lienhard M, Buettner R, Schweiger MR.
    • J Mol Diagn. 2019 Mar;21(2):198-213. doi: 10.1016/j.jmoldx.2018.10.007. Epub 2018 Dec 19.
    • Concurrent isolated retroperitoneal HGSC and STIC defined by somatic mutation analysis: a case report.
    • Suda K, Nakaoka H, Hata C, Yahata N, Isobe M, Kameyama H, Wakai T, Motoyama T, Inoue I, Yoshihara K, Enomoto T.
    • Diagn Pathol. 2019 Feb 11;14(1):17. doi: 10.1186/s13000-019-0795-3.
    • Somatic aberrations of BRCA1 gene are associated with ALDH1, EGFR, and tumor progression in prostate cancer.
    • Omari A, Nastały P, Stoupiec S, Bałabas A, Dąbrowska M, Bielińska B, Huss S, Pantel K, Semjonow A, Eltze E, Brandt B, Bednarz-Knoll N.
    • Int J Cancer. 2019 Feb 1;144(3):607-614. doi: 10.1002/ijc.31905. Epub 2018 Oct 22.
    • BRCA Reversion Mutations in Circulating Tumor DNA Predict Primary and Acquired Resistance to the PARP Inhibitor Rucaparib in High-Grade Ovarian Carcinoma.
    • Lin KK, Harrell MI, Oza AM, Oaknin A, Ray-Coquard I, Tinker AV, Helman E, Radke MR, Say C, Vo LT, Mann E, Isaacson JD, Maloney L, O'Malley DM, Chambers SK, Kaufmann SH, Scott CL, Konecny GE, Coleman RL, Sun JX, Giordano H, Brenton JD, Harding TC, McNeish IA, Swisher EM.
    • Cancer Discov. 2019 Feb;9(2):210-219. doi: 10.1158/2159-8290.CD-18-0715. Epub 2018 Nov 13.
    • [Biopathology of ovarian carcinomas early and advanced-stages: Article drafted from the French guidelines in oncology entitled "Initial management of patients with epithelial ovarian cancer" developed by FRANCOGYN, CNGOF, SFOG, GINECO-ARCAGY under the aegis of CNGOF and endorsed by INCa].
    • Devouassoux-Shisheboran M, Le Frère-Belda MA, Leary A.
    • Gynecol Obstet Fertil Senol. 2019 Feb;47(2):155-167. doi: 10.1016/j.gofs.2018.12.015. Epub 2019 Jan 25.
    • [Article in French]
    • Peritoneal washing is an adequate source for somatic BRCA1/2 mutation testing in ovarian malignancies.
    • Barquín M, Maximiano C, Pérez-Barrios C, Sanchez-Herrero E, Soriano M, Colmena M, García-Espantaleón M, Tejerina González E, Gutierrez L, Sánchez Ruiz AC, Torrente M, Provencio M, Romero A.
    • Pathol Res Pract. 2019 Feb;215(2):392-394. doi: 10.1016/j.prp.2018.10.028. Epub 2018 Oct 28.
    • Current strategies for the targeted treatment of high-grade serous epithelial ovarian cancer and relevance of BRCA mutational status.
    • Gadducci A, Guarneri V, Peccatori FA, Ronzino G, Scandurra G, Zamagni C, Zola P, Salutari V.
    • J Ovarian Res. 2019 Jan 28;12(1):9. doi: 10.1186/s13048-019-0484-6.
    • Glucocorticoid receptor expression is associated with inferior overall survival independent of BRCA mutation status in ovarian cancer.
    • Veneris JT, Huang L, Churpek JE, Conzen SD, Fleming GF.
    • Int J Gynecol Cancer. 2019 Jan 25. pii: ijgc-2018-000101. doi: 10.1136/ijgc-2018-000101. [Epub ahead of print]
    • Capillary electrophoresis as alternative method to detect tumor genetic mutations: the model built on the founder BRCA1 c.4964_4982del19 variant.
    • De Bonis M, Minucci A, Scaglione GL, De Paolis E, Zannoni G, Scambia G, Capoluongo E.
    • Fam Cancer. 2019 Jan;18(1):29-35. doi: 10.1007/s10689-018-0094-2.
    • The clinical importance of BRCAness in a population-based cohort of Danish epithelial ovarian cancer.
    • Hjortkjær M, Malik Aagaard Jørgensen M, Waldstrøm M, Ørnskov D, Søgaard-Andersen E, Jakobsen A, Dahl-Steffensen K.
    • Int J Gynecol Cancer. 2019 Jan;29(1):166-173. doi: 10.1136/ijgc-2018-000017.
    • Identification and Confirmation of Potentially Actionable Germline Mutations in Tumor-Only Genomic Sequencing.
    • Clark DF, Maxwell KN, Powers J, Lieberman DB, Ebrahimzadeh J, Long JM, McKenna D, Shah P, Bradbury A, Morrissette JJD, Nathanson KL, Domchek SM.
    • JCO Precis Oncol. 2019;3. doi: 10.1200/PO.19.00076. Epub 2019 Aug 19.
    • Somatic mutations in BRCA1&2 in 201 unselected ovarian carcinoma samples - single institution study.
    • Kowalik A, Zalewski K, Kopczyński J, Siołek M, Lech M, Hińcza K, Kalisz J, Chrapek M, Zięba S, Furmańczyk J, Jedliński M, Chłopek M, Misiek M, Góźdź S.
    • Pol J Pathol. 2019;70(2):115-126. doi: 10.5114/pjp.2019.82905.
    • Functional Ex Vivo Assay Reveals Homologous Recombination Deficiency in Breast Cancer Beyond BRCA Gene Defects.
    • Meijer TG, Verkaik NS, Sieuwerts AM, van Riet J, Naipal KAT, van Deurzen CHM, den Bakker MA, Sleddens HFBM, Dubbink HJ, den Toom TD, Dinjens WNM, Lips E, Nederlof PM, Smid M, van de Werken HJG, Kanaar R, Martens JWM, Jager A, van Gent DC.
    • Clin Cancer Res. 2018 Dec 15;24(24):6277-6287. doi: 10.1158/1078-0432.CCR-18-0063. Epub 2018 Aug 23.
    • Next-Generation Service Delivery: A Scoping Review of Patient Outcomes Associated with Alternative Models of Genetic Counseling and Genetic Testing for Hereditary Cancer.
    • McCuaig JM, Armel SR, Care M, Volenik A, Kim RH, Metcalfe KA.
    • Cancers (Basel). 2018 Nov 13;10(11). pii: E435. doi: 10.3390/cancers10110435.
    • The Importance of Distinguishing Sporadic Cancers from Those Related to Cancer Predisposing Germline Mutations.
    • Sorscher S.
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    • Oncotarget. 2017 Jun 27;8(37):61538-61550. doi: 10.18632/oncotarget.18618. eCollection 2017 Sep 22.
    • Novel immunohistochemistry-based signatures to predict metastatic site of triple-negative breast cancers.
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    • Br J Cancer. 2017 Sep 5;117(6):826-834. doi: 10.1038/bjc.2017.224. Epub 2017 Jul 18.
    • Current Challenges Associated With Next-Generation Sequencing of Breast Cancer.
    • Sorscher S.
    • JAMA Oncol. 2017 Sep 1;3(9):1283-1284. doi: 10.1001/jamaoncol.2017.0659.
    • Letter, Comment

    Related:

    Review:

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

    Letter, Reply:

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

    • BRCA1 protein expression and subcellular localization in primary breast cancer: Automated digital microscopy analysis of tissue microarrays.
    • Mahmoud AM, Macias V, Al-Alem U, Deaton RJ, Kadjaksy-Balla A, Gann PH, Rauscher GH.
    • PLoS One. 2017 Sep 1;12(9):e0184385. doi: 10.1371/journal.pone.0184385. eCollection 2017.
    • Reversion Mutations with Clinical Use of PARP Inhibitors: Many Genes, Many Versions.
    • Domchek SM.
    • Cancer Discov. 2017 Sep;7(9):937-939. doi: 10.1158/2159-8290.CD-17-0734.
    • Review

    Related:

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

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

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

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

    Related:

    Review:

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

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

    Related:

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

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

    Related:

    Research news:

    Olaparib and somatic BRCA mutations.

    • Characterizing Molecular Variants and Clinical Utilization of Next-generation Sequencing in Advanced Breast Cancer.
    • Gurda GT, Ambros T, Nikiforova MN, Nikiforov YE, Lucas PC, Dabbs DJ, Lee AV, Brufsky AM, Puhalla SL, Bhargava R.
    • Appl Immunohistochem Mol Morphol. 2017 Jul;25(6):392-398. doi: 10.1097/PAI.0000000000000322.
    • Treatment Outcomes and Tumor Loss of Heterozygosity in Germline DNA Repair-deficient Prostate Cancer.
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    • Eur Urol. 2017 Jul;72(1):34-42. doi: 10.1016/j.eururo.2017.02.023. Epub 2017 Mar 1.
    • Germline and somatic mutations in homologous recombination genes among Chinese ovarian cancer patients detected using next-generation sequencing.
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    • 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.
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    • 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.
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    • 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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    • The Prognostic Value of BRCA1 and PARP Expression in Epithelial Ovarian Carcinoma: Immunohistochemical Detection.
    • Hjortkjær M, Waldstrøm M, Jakobsen A, Kanstrup H, Søgaard-Andersen E, Dahl Steffensen K.
    • Int J Gynecol Pathol. 2017 Mar;36(2):180-189. doi: 10.1097/PGP.0000000000000310.
    • Homologous recombination deficiency (HRD) testing in ovarian cancer clinical practice: a review of the literature.
    • Frey MK, Pothuri B.
    • Gynecol Oncol Res Pract. 2017 Feb 22;4:4. doi: 10.1186/s40661-017-0039-8. eCollection 2017.
    • The Role of Genetic Testing in the Selection of Therapy for Breast Cancer: A Review.
    • Niravath P, Cakar B, Ellis M.
    • JAMA Oncol. 2017 Feb 1;3(2):262-268. doi: 10.1001/jamaoncol.2016.2719.
    • Review

    Related:

    Letter, Comment:

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

    Related:

    Letter, Reply:

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

    • Novel BRCA1 and BRCA2 Tumour Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.
    • Weren RD, Mensenkamp AR, Simons M, Eijkelenboom A, Sie AS, Ouchene H, van Asseldonk M, Gomez-Garcia EB, Blok MJ, de Hullu JA, Nelen MR, Hoischen A, Bulten J, Tops BB, Hoogerbrugge N, Ligtenberg EM.
    • Hum Mutat. 2017 Feb;38(2):226-235. doi: 10.1002/humu.23137. Epub 2016 Nov 9.
    • Molecularly confirmed Li-Fraumeni-like syndrome in a patient with breast cancer and a low pre-test probability for harboring a germline CHEK2 truncation
    • Sorscher S
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    • Molecular determination of the clonal relationships between multiple tumors in BRCA1/2-associated breast and/or ovarian cancer patients is clinically relevant.
    • Geurts-Giele WR, van Verschuer VM, van Deurzen CH, van Diest PJ, Pedrosa RM, Collée JM, Koppert LB, Seynaeve C, Dinjens WN.
    • 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.
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    • Rom J Morphol Embryol. 2017;58(2):445-455.
    • Predictors of Chemosensitivity in Triple Negative Breast Cancer: An Integrated Genomic Analysis.
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    • Therapeutic potential of taxanes in the treatment of metastatic pancreatic cancer.
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    • 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.
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    • [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.
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    • Genomic testing and precision medicine - What does this mean for gynecologic oncology?
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    • How Far Do We Go With Genetic Evaluation? Gene, Panel, and Tumor Testing.
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    • 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.

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

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    • Breast Cancer Experience of the Molecular Tumor Board at the University of California, San Diego Moores Cancer Center.
    • Parker BA, Schwaederlé M, Scur MD, Boles SG, Helsten T, Subramanian R, Schwab RB, Kurzrock R.
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    • Next generation sequencing of triple negative breast cancer to find predictors for chemotherapy response.
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    • 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.
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    • Development of a Comprehensive NGS Workflow for the Analysis of Tumor BRCA1 and BRCA2 Mutations and Large Rearrangements.
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    • Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.
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    • A 2015 update on predictive molecular pathology and its role in targeted cancer therapy: a review focussing on clinical relevance.
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    • 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.
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    • Clinical Sequencing Contributes to a BRCA-Associated Cancer Rediagnosis That Guides an Effective Therapeutic Course.
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    • Whole-genome characterization of chemoresistant ovarian cancer.
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    • Breast cancer under age 40: a different approach.
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    • Review
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    • Therogenetics: transferring GWAS technology to the clinic.
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    • Mutational profiling of familial male breast cancers reveals similarities with luminal A female breast cancer with rare TP53 mutations.
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    • Association of BRCA1/2 defects with genomic scores predictive of DNA damage repair deficiency among breast cancer subtypes.
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    • Establishing the origin of metastatic deposits in the setting of multiple primary malignancies: the role of massively parallel sequencing.
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    • Tumor mutation burden forecasts outcome in ovarian cancer with BRCA1 or BRCA2 mutations.
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    • Calls for genetic screening of ovarian cancer patients.
    • Philippa Brice.
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    • Short telomeres are frequent in hereditary breast tumors and are associated with high tumor grade.
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    • Poly(adenosine diphosphate-ribose) polymerase expression in BRCA-proficient ovarian high-grade serous carcinoma; association with patient survival.
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    • Multiplex DNA sensor for BRAF and BRCA detection.
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    • Tumour diploidy and survival in breast cancer patients with BRCA2 mutations.
    • Tryggvadottir L, Olafsdottir EJ, Olafsdottir GH, Sigurdsson H, Johannsson OT, Bjorgvinsson E, Alexiusdottir K, Stefansson OA, Agnarsson BA, Narod SA, Eyfjord JE, Jonasson JG.
    • Breast Cancer Res Treat. 2013 Jul;140(2):375-84. doi: 10.1007/s10549-013-2637-4. Epub 2013 Jul 16.
    • Clinical-pathologic significance of cancer stem cell marker expression in familial breast cancers.
    • Bane A, Viloria-Petit A, Pinnaduwage D, Mulligan AM, O'Malley FP, Andrulis IL.
    • Breast Cancer Res Treat. 2013 Jul;140(1):195-205. doi: 10.1007/s10549-013-2591-1. Epub 2013 Jun 28.
    • Classifications within molecular subtypes enables identification of BRCA1/BRCA2 mutation carriers by RNA tumor profiling.
    • Larsen MJ, Kruse TA, Tan Q, Lænkholm AV, Bak M, Lykkesfeldt AE, Sørensen KP, Hansen TV, Ejlertsen B, Gerdes AM, Thomassen M.
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    • BRCA1 expression and improved survival in ovarian cancer patients treated with intraperitoneal cisplatin and paclitaxel: a Gynecologic Oncology Group Study.
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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.
    • BMC Cancer. 2013 Mar 22;13:146. doi: 10.1186/1471-2407-13-146.
    • Phenotypic characterization of hereditary epithelial ovarian cancer based on a tissue microarray study.
    • Muñoz-Repeto I, García MJ, Kamieniak M, Ramón Y Cajal T, Domingo S, Cazorla A, García Donas J, Hernando Polo S, García Sagredo JM, Hernández E, Lacambra C, Saez R, Robles L, Borrego S, Prat J, Palacios J, Benítez J.
    • Histol Histopathol. 2013 Jan;28(1):133-44.
    • PIK3CA mutations are frequently observed in BRCAX but not BRCA2-associated male breast cancer.
    • Deb S, Do H, Byrne D, Jene N; kConFab Investigators, Dobrovic A, Fox SB.
    • Breast Cancer Res. 2013;15(4):R69.
    • High grade prostatic intraepithelial neoplasia does not display loss of heterozygosity at the mutation locus in BRCA2 mutation carriers with aggressive prostate cancer.
    • Willems-Jones A, Kavanagh L, Clouston D, Bolton D; kConFab Investigators, Fox S, Thorne H.
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    Press: Tiny genetic variation can predict ovarian cancer outcome. (EurekAlert!)

    • BRCA1/2 mutations and expression: response to platinum chemotherapy in patients with advanced stage epithelial ovarian cancer.
    • Dann RB, DeLoia JA, Timms KM, Zorn KK, Potter J, Flake DD 2nd, Lanchbury JS, Krivak TC.
    • Gynecol Oncol. 2012 Jun;125(3):677-82. doi: 10.1016/j.ygyno.2012.03.006. Epub 2012 Mar 8.
    • Somatic mutations in the BRCA1 gene in Chinese women with sporadic breast cancer.
    • Zhang M, Xu Y, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • Breast Cancer Res Treat. 2012 Feb;132(1):335-40. doi: 10.1007/s10549-011-1887-2. Epub 2011 Nov 25.