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 Jan 22, 2021 @ 7:42 pm.


    • Homologous recombination deficiency: how genomic signatures are generated.
    • Setton J, Reis-Filho JS, Powell SN.
    • Curr Opin Genet Dev. 2021 Jan 18;66:93-100. doi: 10.1016/j.gde.2021.01.002. Epub ahead of print.
    • Review
    • Homologous recombination deficiency (HRD) score in germline BRCA2- versus ATM-altered prostate cancer.
    • Lotan TL, Kaur HB, Salles DC, Murali S, Schaeffer EM, Lanchbury JS, Isaacs WB, Brown R, Richardson AL, Cussenot O, Cancel-Tassin G, Timms KM, Antonarakis ES.
    • Mod Pathol. 2021 Jan 18. doi: 10.1038/s41379-020-00731-4. Epub ahead of print.
    • Current Ovarian Cancer Maintenance Strategies and Promising New Developments.
    • Gogineni V, Morand S, Staats H, Royfman R, Devanaboyina M, Einloth K, Dever D, Stanbery L, Aaron P, Manning L, Walter A, Edelman G, Dworkin L, Nemunaitis J.
    • J Cancer. 2021 Jan 1;12(1):38-53. doi: 10.7150/jca.49406.
    • PARP inhibitor resistance and TP53 mutations in patients treated with olaparib for BRCA-mutated cancer: Four case reports.
    • Collot T, Niogret J, Carnet M, Chevrier S, Humblin E, Favier L, Bengrine-Lefevre L, Desmoulins I, Arnould L, Boidot R.
    • Mol Med Rep. 2021 Jan;23(1):75. doi: 10.3892/mmr.2020.11713. Epub 2020 Nov 25.
    • Case report
    • Concordance between Tumor and Germline BRCA Status in High-Grade Ovarian Carcinoma Patients in the Phase III PAOLA-1/ENGOT-ov25 Trial.
    • Callens C, Vaur D, Soubeyran I, Rouleau E, Just PA, Guillerm E, Golmard L, Goardon N, Sevenet N, Cabaret O, Harter P, Gonzalez-Martin A, Fujiwara K, Cecere SC, Colombo N, Marth C, Vergote I, Maenpaa J, Pujade-Lauraine E, Ray-Coquard I.
    • J Natl Cancer Inst. 2020 Dec 29:djaa193. doi: 10.1093/jnci/djaa193. Epub ahead of print.
    • Characterizing TP53 mutations in ovarian carcinomas with and without concurrent BRCA1 or BRCA2 mutations.
    • Ghezelayagh TS, Pennington KP, Norquist BM, Khasnavis N, Radke MR, Kilgore MR, Garcia RL, Lee M, Katz R, Leslie KK, Risques RA, Swisher EM.
    • Gynecol Oncol. 2020 Dec 26:S0090-8258(20)34178-0. doi: 10.1016/j.ygyno.2020.12.007. Epub ahead of print.
    • Motivations and barriers to pursue cancer genomic testing: a systematic review.
    • Smith-Uffen M, Bartley N, Davies G, Best M.
    • Patient Educ Couns. 2020 Dec 25:S0738-3991(20)306881. doi: 10.1016/j.pec.2020.12.024. Epub ahead of print.
    • Review
    • Biomarkers in Her2- Positive Disease.
    • Klocker EV, Suppan C.
    • Breast Care (Basel). 2020 Dec;15(6):586-593. doi: 10.1159/000512283. Epub 2020 Oct 28.
    • Review
    • PARP Inhibitors in Prostate Cancer: Practical Guidance for Busy Clinicians.
    • VanderWeele DJ, Hussain M.
    • Clin Adv Hematol Oncol. 2020 Dec;18(12).
    • Therapeutic Potential of PARP Inhibitors in the Treatment of Metastatic Castration-Resistant Prostate Cancer.
    • Jang A, Sartor O, Barata PC, Paller CJ.
    • Cancers (Basel). 2020 Nov 21;12(11):E3467. doi: 10.3390/cancers12113467.
    • Tumor BRCA Testing in High Grade Serous Carcinoma: Mutation Rates and Optimal Tissue Requirements.
    • Turashvili G, Lazaro C, Ying S, Charames G, Wong A, Hamilton K, Yee D, Agro E, Chang M, Pollett A, Lerner-Ellis J.
    • Cancers (Basel). 2020 Nov 21;12(11):E3468. doi: 10.3390/cancers12113468.
    • Beware Liquid Biopsies to Guide PARP Blockade.
    • [No author given]
    • Cancer Discov. 2020 Nov 18. doi: 10.1158/2159-8290.CD-NB2020-105. Epub ahead of print.
    • Research news
    • Triple-negative breast cancer: promising prognostic biomarkers currently in development.
    • Sukumar J, Gast K, Quiroga D, Lustberg M, Williams N.
    • Expert Rev Anticancer Ther. 2020 Nov 16. doi: 10.1080/14737140.2021.1840984. Epub ahead of print.
    • Review
    • Myriad Genetics Expands MyChoice CDx Access Through Partnerships in Europe, China.
    • [No author given]
    • Precision Oncology News. 2020 Nov 16.
    • Clinical Challenges in the Management of Hormone Receptor-Positive, Human Epidermal Growth Factor Receptor 2-Negative Metastatic Breast Cancer: A Literature Review.
    • Nagaraj G, Ma CX.
    • Adv Ther. 2020 Nov 15. doi: 10.1007/s12325-020-01552-2. Epub ahead of print.
    • Predictive and Prognostic Value of DNA Damage Response Associated Kinases in Solid Tumors.
    • Gachechiladze M, Skarda J, Bouchalova K, Soltermann A, Joerger M.
    • Front Oncol. 2020 Nov 3;10:581217. doi: 10.3389/fonc.2020.581217.
    • Genomic Profiling Comparison of Germline BRCA and Non-BRCA Carriers Reveals CCNE1 Amplification as a Risk Factor for Non-BRCA Carriers in Patients With Triple-Negative Breast Cancer.
    • Huang X, Shao D, Wu H, Zhu C, Guo D, Zhou Y, Chen C, Lin Y, Lu T, Zhao B, Wang C, Sun Q.
    • Front Oncol. 2020 Oct 30;10:583314. doi: 10.3389/fonc.2020.583314. PMID: 33194720; PMCID: PMC7662137.
    • Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants.
    • Inagaki-Kawata Y, Yoshida K, Kawaguchi-Sakita N, Kawashima M, Nishimura T, Senda N, Shiozawa Y, Takeuchi Y, Inoue Y, Sato-Otsubo A, Fujii Y, Nannya Y, Suzuki E, Takada M, Tanaka H, Shiraishi Y, Chiba K, Kataoka Y, Torii M, Yoshibayashi H, Yamagami K, Okamura R, Moriguchi Y, Kato H, Tsuyuki S, Yamauchi A, Suwa H, Inamoto T, Miyano S, Ogawa S, Toi M.
    • Commun Biol. 2020 Oct 16;3(1):578. doi: 10.1038/s42003-020-01301-9.
    • Pulmonary metastasis secondary to abiraterone-resistant prostate cancer with homozygous deletions of BRCA2: First Japanese case.
    • Izawa M, Kosaka T, Nakamura K, Oba J, Hishida T, Hongo H, Mikami S, Nishihara H, Oya M.
    • IJU Case Rep. 2020 Oct 15;4(1):14-17. doi: 10.1002/iju5.12224.
    • ESMO recommendations on predictive biomarker testing for homologous recombination deficiency and PARP inhibitor benefit in ovarian cancer.
    • Miller RE, Leary A, Scott CL, Serra V, Lord CJ, Bowtell D, Chang DK, Garsed DW, Jonkers J, Ledermann JA, Nik-Zainal S, Ray-Coquard I, Shah SP, Matias-Guiu X, Swisher EM, Yates LR.
    • Ann Oncol. 2020 Sep 28:S0923-7534(20)42164-7. doi: 10.1016/j.annonc.2020.08.2102. Epub ahead of print.
    • First-in-Human Trial of the Oral Ataxia Telangiectasia and Rad3-Related Inhibitor BAY 1895344 in Patients with Advanced Solid Tumors.
    • Yap TA, Tan DSP, Terbuch A, Caldwell R, Guo C, Goh BC, Heong V, Haris NR, Bashir S, Drew Y, Hong DS, Meric-Bernstam F, Wilkinson G, Hreiki J, Wengner AM, Bladt F, Schlicker A, Ludwig M, Zhou Y, Liu L, Bordia S, Plummer R, Lagkadinou E, de Bono JS.
    • Cancer Discov. 2020 Sep 28. doi: 10.1158/2159-8290.CD-20-0868. Epub ahead of print.

    Related:

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

    • A novel signature of two long non-coding RNAs in BRCA mutant ovarian cancer to predict prognosis and efficiency of chemotherapy.
    • Pan Y, Jia LP, Liu Y, Han Y, Li Q, Zou Q, Zhang Z, Huang J, Deng Q.
    • J Ovarian Res. 2020 Sep 19;13(1):112. doi: 10.1186/s13048-020-00712-w.
    • Predicted chemotherapy benefit for breast cancer patients with germline pathogenic variants in cancer susceptibility genes.
    • Kurian AW, Ward KC, Abrahamse P, Hamilton AS, Katz SJ.
    • JNCI Cancer Spectr. 2020 Sep 18; pkaa083. doi: 10.1093/jncics/pkaa083. eCollection 2020 Sep.
    • What is the role of PARP inhibitors in pancreatic cancer?
    • Halder R, T Shroff R.
    • Expert Rev Anticancer Ther. 2020 Sep 11:1-6. doi: 10.1080/14737140.2020.1816174. Epub ahead of print.
    • Implementing NGS-based BRCA tumour tissue testing in FFPE ovarian carcinoma specimens: hints from a real-life experience within the framework of expert recommendations.
    • Rivera D, Paudice M, Gismondi V, Anselmi G, Vellone VG, Varesco L; Ligurian BRCA Working Group.
    • J Clin Pathol. 2020 Sep 7:jclinpath-2020-206840. doi: 10.1136/jclinpath-2020-206840. Epub ahead of print.
    • FoundationOne® CDx gene profiling in Japanese pancreatic ductal adenocarcinoma patients: a single-institution experience.
    • Kimura R, Ohtsuka T, Kubo M, Kajihara A, Fujii A, Watanabe Y, Mori Y, Ikenaga N, Nakata K, Shindo K, Ohuchida K, Nakamura M.
    • Surg Today. 2020 Sep 4. doi: 10.1007/s00595-020-02123-2. Epub ahead of print.
    • Molecular Biomarkers for Early Detection and Prevention of Ovarian Cancer-A Gateway for Good Prognosis: A Narrative Review.
    • Yadav G, Vashisht M, Yadav V, Shyam R.
    • Int J Prev Med. 2020 Sep 3;11:135. doi: 10.4103/ijpvm.IJPVM_75_19.
    • Biomarkers in Breast Cancer: An Integrated Analysis of Comprehensive Genomic Profiling and PD-L1 Immunohistochemistry Biomarkers in 312 Patients with Breast Cancer.
    • Huang RSP, Li X, Haberberger J, Sokol E, Severson E, Duncan DL, Hemmerich A, Edgerly C, Ferguson NL, Williams E, Elvin J, Vergilio JA, Killian JK, Lin D, Hiemenz M, Xiao J, McEwan D, Holmes O, Danziger N, Erlich R, Frampton G, Cohen MB, McGregor K, Reddy P, Cardeiro D, Anhorn R, Venstrom PJ, Alexander B, Brown C, Pusztai L, Ross JS, Ramkissoon SH.
    • Oncologist. 2020 Sep 1. doi: 10.1634/theoncologist.2020-0449. Epub ahead of print.
    • Moving Beyond BRCA - Incorporating Molecular Assays into Ovarian Cancer trials.
    • McMullen M, Karakasis K, Oza AM.
    • Clin Cancer Res. 2020 Aug 14. doi: 10.1158/1078-0432.CCR-20-2429. Epub ahead of print.
    • News
    • Somatic BRCA Mutation in a Cholangiocarcinoma Patient for HBOC Syndrome Detection.
    • Paradiso AV, Patruno M, Digennaro M, Tommasi S, Pilato B, Argentiero A, Brunetti O, Silvestris N.
    • Front Oncol. 2020 Aug 12;10:1292. doi: 10.3389/fonc.2020.01292.
    • BRCA sequencing of tumors: understanding its implications in the oncology community.
    • Wong RSJ, Lee SC.
    • Chin Clin Oncol. 2020 Aug 10:cco-19-198. doi: 10.21037/cco-19-198. Epub ahead of print.
    • Patient-derived ovarian cancer organoids capture the genomic profiles of primary tumours applicable for drug sensitivity and resistance testing.
    • Nanki Y, Chiyoda T, Hirasawa A, Ookubo A, Itoh M, Ueno M, Akahane T, Kameyama K, Yamagami W, Kataoka F, Aoki D.
    • Sci Rep. 2020 Jul 28;10(1):12581. doi: 10.1038/s41598-020-69488-9.
    • Homologous repair deficiency score for identifying breast cancers with defective DNA damage response.
    • Min A, Kim K, Jeong K, Choi S, Kim S, Suh KJ, Lee KH, Kim S, Im SA.
    • Sci Rep. 2020 Jul 27;10(1):12506. doi: 10.1038/s41598-020-68176-y.
    • BRCAness digitalMLPA profiling predicts benefit of intensified platinum-based chemotherapy in triple-negative and luminal-type breast cancer.
    • Lips EH, Benard-Slagter A, Opdam M, Scheerman CE, Wesseling J, Hogervorst FBL, Linn SC, Savola S, Nederlof PM.
    • Breast Cancer Res. 2020 Jul 25;22(1):79. doi: 10.1186/s13058-020-01313-7.
    • PARP Inhibitor Resistance Mechanisms and Implications for Post-Progression Combination Therapies.
    • Lee EK, Matulonis UA.
    • Cancers (Basel). 2020 Jul 25;12(8):E2054. doi: 10.3390/cancers12082054.
    • Disclosure of secondary findings in exome sequencing of 2480 Japanese cancer patients.
    • Horiuchi Y, Matsubayashi H, Kiyozumi Y, Nishimura S, Higashigawa S, Kado N, Nagashima T, Mizuguchi M, Ohnami S, Arai M, Urakami K, Kusuhara M, Yamaguchi K.
    • Hum Genet. 2020 Jul 24. doi: 10.1007/s00439-020-02207-6. Epub ahead of print.
    • Clinical implications of breast cancer tumor genomic testing.
    • Damodaran S, Sember QC, Arun BK.
    • Breast J. 2020 Jul 22. doi: 10.1111/tbj.13966. Epub ahead of print.
    • Clinical BRCA1/2 reversion analysis identifies hotspot mutations and predicted neoantigens associated with therapy resistance.
    • Pettitt SJ, Frankum JR, Punta M, Lise S, Alexander J, Chen Y, Yap TA, Haider S, Tutt ANJ, Lord CJ.
    • Cancer Discov. 2020 Jul 22:CD-19-1485. doi: 10.1158/2159-8290.CD-19-1485. Epub ahead of print.
    • Clinical characteristics and exploratory genomic analyses of germline BRCA1 or BRCA2 mutations in breast cancer.
    • Park S, Lee E, Park S, Lee S, Nam SJ, Kim SW, Lee JE, Yu JH, Kim JY, Ahn JS, Im YH, Park WY, Park K, Park YH.
    • Mol Cancer Res. 2020 Jun 17:molcanres.1108.2019. doi: 10.1158/1541-7786.MCR-19-1108. Epub ahead of print.
    • Feasibility of tumor testing for BRCA status in high-grade serous ovarian cancer using fresh-frozen tissue based approach.
    • Marchetti C, Minucci A, D'Indinosante M, Ergasti R, Arcieri M, Capoluongo ED, Pietragalla A, Caricato C, Scambia G, Fagotti A.
    • Gynecol Oncol. 2020 Jun 15:S0090-8258(20)32294-0. doi: 10.1016/j.ygyno.2020.06.479. Epub ahead of print.
    • Simple prediction model for homologous recombination deficiency in breast cancers in adolescents and young adults.
    • Watanabe T, Honda T, Totsuka H, Yoshida M, Tanioka M, Shiraishi K, Shimada Y, Arai E, Ushiama M, Tamura K, Yoshida T, Kanai Y, Kohno T.
    • 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.
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    • Cancer Susceptibility Mutations in Patients With Urothelial Malignancies.
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    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.
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    • Review
    • Clinical significance of TP53 variants as possible secondary findings in tumor-only next-generation sequencing.
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    • Relationship Between Hereditary Cancer Syndromes and Oncotype DX Recurrence Score.
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    • An optimized BRCA1/2 next-generation sequencing for different clinical sample types.
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    • From Targeting Somatic Mutations to Finding Inherited Cancer Predispositions: The Other Side of the Coin.
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    • 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.
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    • 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.
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    • Cancer Res. 2019 Jun 18. pii: canres.3835.2018. doi: 10.1158/0008-5472.CAN-18-3835. [Epub ahead of print]
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    • Clin Genet. 2019 Jun;95(6):643-660. doi: 10.1111/cge.13514. Epub 2019 Jan 22.
    • Recommendations for the implementation of BRCA testing in ovarian cancer patients and their relatives.
    • Gori S, Barberis M, Bella MA, Buttitta F, Capoluongo E, Carrera P, Colombo N, Cortesi L, Genuardi M, Gion M, Guarneri V, Incorvaia L, La Verde N, Lorusso D, Marchetti A, Marchetti P, Normanno N, Pasini B, Pensabene M, Pignata S, Radice P, Ricevuto E, Sapino A, Tagliaferri P, Tassone P, Trevisiol C, Truini M, Varesco L, Russo A; AIOM-SIGU-SIBIOC-SIAPEC-IAP Working Group.
    • Crit Rev Oncol Hematol. 2019 May 25;140:67-72. doi: 10.1016/j.critrevonc.2019.05.012. [Epub ahead of print]
    • Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.
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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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    • Conference abstract
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    • Identifying disparities in germline and somatic testing for ovarian cancer.
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    • ERCC1-XPF deficiency is a predictor of olaparib induced synthetic lethality and platinum sensitivity in epithelial ovarian cancers.
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    • DNA damage repair alterations are frequent in prostatic adenocarcinomas with focal pleomorphic giant-cell features.
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    • 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.
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    • 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.
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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.
    • 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.
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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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    • Concurrent isolated retroperitoneal HGSC and STIC defined by somatic mutation analysis: a case report.
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    • BRCA Reversion Mutations in Circulating Tumor DNA Predict Primary and Acquired Resistance to the PARP Inhibitor Rucaparib in High-Grade Ovarian Carcinoma.
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    • Current strategies for the targeted treatment of high-grade serous epithelial ovarian cancer and relevance of BRCA mutational status.
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    • Identification and Confirmation of Potentially Actionable Germline Mutations in Tumor-Only Genomic Sequencing.
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    • Combining Enzalutamide with PARP inhibitors: Pharmaceutically induced BRCAness.
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    • Novel immunohistochemistry-based signatures to predict metastatic site of triple-negative breast cancers.
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    • Letter, Comment

    Related:

    Review:

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

    Letter, Reply:

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

    • BRCA1 protein expression and subcellular localization in primary breast cancer: Automated digital microscopy analysis of tissue microarrays.
    • Mahmoud AM, Macias V, Al-Alem U, Deaton RJ, Kadjaksy-Balla A, Gann PH, Rauscher GH.
    • 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.
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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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    • 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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    Related:

    Research news:

    Olaparib and somatic BRCA mutations.

    • Characterizing Molecular Variants and Clinical Utilization of Next-generation Sequencing in Advanced Breast Cancer.
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    • 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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    • 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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    • BRCA1 reversion mutation acquired after treatment identified by liquid biopsy.
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    • Metastatic Breast Cancer with BRCA Mutation Discovered By Next-Generation Sequencing Responding to Olaparib.
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    • DNA repair genes PAXIP1 and TP53BP1 expression is associated with breast cancer prognosis.
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    • Guidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer Patients.
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    • BRCA promoter methylation in sporadic versus BRCA germline mutation-related breast cancers.
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    • Vitamin D receptor, Retinoid X receptor and peroxisome proliferator-activated receptor γ are overexpressed in BRCA1 mutated breast cancer and predict prognosis.
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    • 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.
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    • 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.
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    • Homologous recombination deficiency (HRD) testing in ovarian cancer clinical practice: a review of the literature.
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    • 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.
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    • Review

    Related:

    Letter, Comment:

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

    Related:

    Letter, Reply:

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

    • Novel BRCA1 and BRCA2 Tumour Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.
    • Weren RD, Mensenkamp AR, Simons M, Eijkelenboom A, Sie AS, Ouchene H, van Asseldonk M, Gomez-Garcia EB, Blok MJ, de Hullu JA, Nelen MR, Hoischen A, Bulten J, Tops BB, Hoogerbrugge N, Ligtenberg EM.
    • Hum Mutat. 2017 Feb;38(2):226-235. doi: 10.1002/humu.23137. Epub 2016 Nov 9.
    • Molecularly confirmed Li-Fraumeni-like syndrome in a patient with breast cancer and a low pre-test probability for harboring a germline CHEK2 truncation
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    • Molecular determination of the clonal relationships between multiple tumors in BRCA1/2-associated breast and/or ovarian cancer patients is clinically relevant.
    • Geurts-Giele WR, van Verschuer VM, van Deurzen CH, van Diest PJ, Pedrosa RM, Collée JM, Koppert LB, Seynaeve C, Dinjens WN.
    • 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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    • Review
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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.
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    • Beside P53 and PTEN: Identification of molecular alterations of the RAS/MAPK and PI3K/AKT signaling pathways in high-grade serous ovarian carcinomas to determine potential novel therapeutic targets.
    • Chen S, Cavazza E, Barlier C, Salleron J, Filhine-Tresarrieu P, Gavoilles C, Merlin JL, Harlé A.
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    • Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.
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    • 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.
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    • 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.
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    • Cancer. 2016 Apr 15;122(8):1178-1184. doi: 10.1002/cncr.29903. Epub 2016 Feb 9.
    • Different Array CGH profiles within hereditary breast cancer tumors associated to BRCA1 expression and overall survival.
    • 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.
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    • Genomic testing and precision medicine - What does this mean for gynecologic oncology?
    • Liu J, Konstantinopoulos PA, Matulonis UA.
    • Gynecol Oncol. 2016 Jan;140(1):3-5. doi: 10.1016/j.ygyno.2015.12.001. Epub 2015 Dec 4.
    • The cancer genetics and pathology of male breast cancer.
    • Deb S, Lakhani SR, Ottini L, Fox SB.
    • Histopathology. 2016 Jan;68(1):110-8. doi: 10.1111/his.12862.
    • How Far Do We Go With Genetic Evaluation? Gene, Panel, and Tumor Testing.
    • Lynce F, Isaacs C.
    • Am Soc Clin Oncol Educ Book. 2016;35:e72-e78. doi: 10.14694/EDBK_160391.
    • UK BRCA mutation testing in patients with ovarian cancer.
    • George A.
    • Br J Cancer. 2015 Dec 15;113(S1):S17-S21. doi: 10.1038/bjc.2015.396.
    • Review
    • Copy number profiling by array comparative genomic hybridization identifies frequently occurring BRCA2-like male breast cancer.
    • Biesma HD, Schouten PC, Lacle MM, Sanders J, Brugman W, Kerkhoven R, Mandjes I, van der Groep P, van Diest PJ, Linn SC.
    • Genes Chromosomes Cancer. 2015 Dec;54(12):734-44. doi: 10.1002/gcc.22284. Epub 2015 Sep 10.
    • Prospective Validation of a 21-Gene Expression Assay in Breast Cancer.
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    • N Engl J Med. 2015 Nov 19;373(21):2005-14. doi: 10.1056/NEJMoa1510764. Epub 2015 Sep 27.

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

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    A 21-Gene Expression Assay in Breast Cancer.

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    A 21-Gene Expression Assay in Breast Cancer.

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    A 21-Gene Expression Assay in Breast Cancer.

    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.
    • 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.
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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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    • 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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    • Mutational profiling of familial male breast cancers reveals similarities with luminal A female breast cancer with rare TP53 mutations.
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    • Tumor mutation burden forecasts outcome in ovarian cancer with BRCA1 or BRCA2 mutations.
    • Birkbak NJ, Kochupurakkal B, Izarzugaza JM, Eklund AC, Li Y, Liu J, Szallasi Z, Matulonis UA, Richardson AL, Iglehart JD, Wang ZC.
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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.
    • Martinez-Delgado B, Gallardo M, Tanic M, Yanowsky K, Inglada-Perez L, Barroso A, Rodriguez-Pinilla M, Cañamero M, Blasco MA, Benitez J.
    • Breast Cancer Res Treat. 2013 Sep;141(2):231-42. doi: 10.1007/s10549-013-2696-6. Epub 2013 Sep 15.
    • Poly(adenosine diphosphate-ribose) polymerase expression in BRCA-proficient ovarian high-grade serous carcinoma; association with patient survival.
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    • Multiplex DNA sensor for BRAF and BRCA detection.
    • Ai X, Ma Q, Su X.
    • Anal Biochem. 2013 Jul 1;438(1):22-8. doi: 10.1016/j.ab.2013.02.029. Epub 2013 Mar 13.
    • Tumour diploidy and survival in breast cancer patients with BRCA2 mutations.
    • Tryggvadottir L, Olafsdottir EJ, Olafsdottir GH, Sigurdsson H, Johannsson OT, Bjorgvinsson E, Alexiusdottir K, Stefansson OA, Agnarsson BA, Narod SA, Eyfjord JE, Jonasson JG.
    • Breast Cancer Res Treat. 2013 Jul;140(2):375-84. doi: 10.1007/s10549-013-2637-4. Epub 2013 Jul 16.
    • Clinical-pathologic significance of cancer stem cell marker expression in familial breast cancers.
    • Bane A, Viloria-Petit A, Pinnaduwage D, Mulligan AM, O'Malley FP, Andrulis IL.
    • Breast Cancer Res Treat. 2013 Jul;140(1):195-205. doi: 10.1007/s10549-013-2591-1. Epub 2013 Jun 28.
    • Classifications within molecular subtypes enables identification of BRCA1/BRCA2 mutation carriers by RNA tumor profiling.
    • Larsen MJ, Kruse TA, Tan Q, Lænkholm AV, Bak M, Lykkesfeldt AE, Sørensen KP, Hansen TV, Ejlertsen B, Gerdes AM, Thomassen M.
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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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    • Pathologe. 2012 Nov;33 Suppl 2:282-90. doi: 10.1007/s00292-012-1645-1.
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    Related:

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

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