Treatment-Focused Genetic Testing
~ Genetics of Breast & Ovarian Cancer

References concerning germline testing done following cancer diagnosis for the purpose of guiding treatment decisions

List was last updated on Dec 8, 2019 @ 8:12 pm.


    • Mutational Screening of BRCA1/2 Genes as a Predictive Factor for Therapeutic Response in Epithelial Ovarian Cancer: A Consensus Guide from the Spanish Society of Pathology (SEAP-IAP) and the Spanish Society of Human Genetics (AEGH).
    • Palacios J, de la Hoya M, Bellosillo B, de Juan I, Matías-Guiu X, Lázaro C, Palanca S, Osorio A, Rojo F, Rosa-Rosa JM, Cigudosa JC.
    • Virchows Arch. 2019 Dec 3. doi: 10.1007/s00428-019-02709-3. [Epub ahead of print]
    • Platinum response characteristics of patients with pancreatic ductal adenocarcinoma and a germline BRCA1, BRCA2 or PALB2 mutation.
    • Wattenberg MM, Asch D, Yu S, O'Dwyer PJ, Domchek SM, Nathanson KL, Rosen MA, Beatty GL, Siegelman ES, Reiss KA.
    • Br J Cancer. 2019 Dec 2. doi: 10.1038/s41416-019-0582-7. [Epub ahead of print]

    Editorial:

    Genotype–phenotype correlation in BRCA1/2 mutation-associated pancreatic cancer.

    • Genotype-phenotype correlation in BRCA1/2 mutation-associated pancreatic cancer.
    • Lowery MA.
    • Br J Cancer. 2019 Dec 2. doi: 10.1038/s41416-019-0645-9. [Epub ahead of print]
    • Germline and somatic mutations of homologous recombination-associated genes in Japanese ovarian cancer patients.
    • Sugino K, Tamura R, Nakaoka H, Yachida N, Yamaguchi M, Mori Y, Yamawaki K, Suda K, Ishiguro T, Adachi S, Isobe M, Yamaguchi M, Kashima K, Motoyama T, Inoue I, Yoshihara K, Enomoto T.
    • Sci Rep. 2019 Nov 28;9(1):17808. doi: 10.1038/s41598-019-54116-y.
    • Myriad Genetics Myriad Wins Japanese Approval for BRACAnalysis to Assess Breast, Ovarian Cancer Risk.
    • [No author given]
    • Clinical Omics. 2019 Nov 21.
    • Myriad Genetics BRACAnalysis Approved by Japanese Regulators.
    • [No author given]
    • GenomeWeb. 2019 Nov 21.
    • Mainstreamed genetic testing in ovarian cancer: patient experience of the testing process.
    • McLeavy L, Rahman B, Kristeleit R, Ledermann J, Lockley M, McCormack M, Mould T, Side L, Lanceley A.
    • Int J Gynecol Cancer. 2019 Nov 19. pii: ijgc-2019-000630. doi: 10.1136/ijgc-2019-000630. [Epub ahead of print]
    • Hereditary prostate cancer - Primetime for genetic testing?
    • Heidegger I, Tsaur I, Borgmann H, Surcel C, Kretschmer A, Mathieu R, Visschere P, Valerio M, van den Bergh RCN, Ost P, Tilki D, Gandaglia G, Ploussard G; EAU-YAU Prostate Cancer Working Party.
    • Cancer Treat Rev. 2019 Nov 11;81:101927. doi: 10.1016/j.ctrv.2019.101927. [Epub ahead of print]
    • Review
    • 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]

    Original research:

    Final Overall Survival of a Randomized Trial of Bevacizumab for Primary Treatment of Ovarian Cancer.

    • Cost-effectiveness of BRCA1/2 mutation profiling to target olaparib use in patients with metastatic breast cancer.
    • Saito S, Nakazawa K, Nagahashi M, Ishikawa T, Akazawa K.
    • Per Med. 2019 Nov 6. doi: 10.2217/pme-2018-0141. [Epub ahead of print]
    • FDA Approval of Myriad Genetics CDx Adds HRD to Growing List of Ovarian Cancer Predictive Markers.
    • Ray T.
    • GenomeWeb. 2019 Oct 29.
    • FDA Approves GSK's Zejula Alongside Myriad Genetics CDx for Advanced Ovarian Cancer.
    • [No author given]
    • GenomeWeb. 2019 Oct 23.
    • 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.
    • 'Landmark' Trial in Prostate Cancer With Mutations.
    • Davenport L.
    • Medscape Oncology. 2019 Oct 4.
    • Genetic testing in ovarian cancer - clinical impact and current practices.
    • Knabben L, Imboden S, Mueller MD.
    • Horm Mol Biol Clin Investig. 2019 Oct 2. pii: /j/hmbci.ahead-of-print/hmbci-2019-0025/hmbci-2019-0025.xml. doi: 10.1515/hmbci-2019-0025. [Epub ahead of print]
    • Review
    • A case report of a dramatic response to olaparib in a patient with metastatic pancreatic cancer harboring a germline BRCA2 mutation.
    • Wang H, Mao C, Li N, Sun L, Zheng Y, Xu N.
    • Medicine (Baltimore). 2019 Oct;98(40):e17443. doi: 10.1097/MD.0000000000017443.
    • 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.
    • Tumor-Based Genetic Testing and Familial Cancer Risk.
    • Forman A, Sotelo J.
    • Cold Spring Harb Perspect Med. 2019 Sep 30. pii: a036590. doi: 10.1101/cshperspect.a036590. [Epub ahead of print]
    • Review
    • Cancer Genetic Counseling—Current Practice and Future Challenges.
    • Schienda J, Stopfer J.
    • Cold Spring Harb Perspect Med. 2019 Sep 23. pii: a036541. doi: 10.1101/cshperspect.a036541. [Epub ahead of print]
    • Review
    • 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.
    • BRCA test: what is the correct timing for surgery?
    • Mirandola S, Invento A, Surci N, Pollini GP, Pellini F.
    • Eur J Cancer Prev. 2019 Sep;28(5):460-462. doi: 10.1097/CEJ.0000000000000509.
    • 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.
    • Pathogenic Germline Variants in Patients With Metastatic Breast Cancer.
    • Stuttgen K, Croessmann S, Fetting J, Stearns V, Nunes R, Connolly RM, Park BH.
    • JAMA Oncol. 2019 Aug 29. doi: 10.1001/jamaoncol.2019.3116. [Epub ahead of print]
    • Commentary

    Press: Hereditary Cancer Risk Variants Found in Significant Subset of Metastatic Breast Cancer Patients. (GenomeWeb)

    Research news: Inherited Mutations In Metastatic Breast Cancer Patients. (FORCE. XRAYS.)

    • 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.
    • Myriad to Pursue mCRPC Approval for BRACAnalysis CDx
    • [No author given.]
    • Clinical Omics. 2019 Aug 7.
    • Myriad Genetics Seeking Additional FDA Approval for BRACAnalysis CDx.
    • [No author given]
    • GenomeWeb. 2019 Aug 7.
    • Screening for Pancreatic Cancer.
    • Lucas AL, Kastrinos F.
    • JAMA. 2019 Aug 6;322(5):407-408. doi: 10.1001/jama.2019.9690.

    Guidelines:

    Screening for Pancreatic Cancer: US Preventive Services Task Force Reaffirmation Recommendation Statement.

    Editorial:

    Screening for Pancreatic Cancer Gets a D, But the Student Is Improving.

    Editorial:

    Screening for Pancreatic Cancer-Is There Hope?

    • Paradigm Shifting of Systemic Chemotherapy for Unresectable Pancreatic Cancer in Japan.
    • Furuse J.
    • J Clin Med. 2019 Aug 4;8(8). pii: E1170. doi: 10.3390/jcm8081170.
    • 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.
    • 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]
    • Prostate-specific Membrane Antigen Heterogeneity and DNA Repair Defects in Prostate Cancer.
    • Paschalis A, Sheehan B, Riisnaes R, Rodrigues DN, Gurel B, Bertan C, Ferreira A, Lambros MBK, Seed G, Yuan W, Dolling D, Welti JC, Neeb A, Sumanasuriya S, Rescigno , Bianchini D, Tunariu N, Carreira S, Sharp A, Oyen W, de Bono JS.
    • Eur Urol. 2019 Jul 13. pii: S0302-2838(19)30520-2. doi: 10.1016/j.eururo.2019.06.030. [Epub ahead of print]
    • Platinum Salts in Patients with Breast Cancer: A Focus on Predictive Factors.
    • Garutti M, Pelizzari G, Bartoletti M, Malfatti MC, Gerratana L, Tell G, Puglisi F.
    • Int J Mol Sci. 2019 Jul 10;20(14). pii: E3390. doi: 10.3390/ijms20143390.
    • FoundationOne CDx Approved as Companion Diagnostic to Lynparza in Ovarian Cancer.
    • [No author given.]
    • Clinical Omics. 2019 Jul 3.
    • The clinical features associated with mutated BRCA1 and 2 genes in ovarian cancer patients.
    • Kubelac P, Vlad C, Berindan Neagoe I, Irimie A, Achimas Cadariu P.
    • J BUON. 2019 Jul-Aug;24(4):1538-1543.
    • Moving into the mainstream: healthcare professionals' views of implementing treatment focussed genetic testing in breast cancer care.
    • Hallowell N, Wright S, Stirling D, Gourley C, Young O, Porteous M.
    • Fam Cancer. 2019 Jul;18(3):293-301. doi: 10.1007/s10689-019-00122-y.
    • [Hereditary Breast and Ovarian Cancer Syndrome].
    • Inuzuka M, Nakamura S.
    • Gan To Kagaku Ryoho. 2019 Jul;46(7):1109-1113.
    • Review, [Article in Japanese]
    • The 34th Annual Meeting of the Korean Society of Gynecologic Oncology 2019: meeting report.
    • Yim GW, Suh DH, Kim JW, Kim SC, Kim YT.
    • J Gynecol Oncol. 2019 Jul;30(4):e91. doi: 10.3802/jgo.2019.30.e91.
    • Genetic Testing for Breast Cancer Susceptibility Should Be Offered before Unilateral Abdominally Based Free Flap Breast Reconstruction.
    • Dayan E, Chittenden A, Garber JE, Wo L, Caterson SA, Carty MJ, Erdmann-Sager J.
    • Plast Reconstr Surg. 2019 Jul;144(1):12-20. doi: 10.1097/PRS.0000000000005693.
    • High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer.
    • Bertelsen B, Tuxen IV, Yde CW, Gabrielaite M, Torp MH, Kinalis S, Oestrup O, Rohrberg K, Spangaard I, Santoni-Rugiu E, Wadt K, Mau-Sorensen M, Lassen U, Nielsen FC.
    • NPJ Genom Med. 2019 Jun 21;4:13. doi: 10.1038/s41525-019-0087-6. eCollection 2019.
    • Rate of BRCA mutation in patients tested under NCCN genetic testing criteria.
    • Beck AC, Yuan H, Liao J, Imperiale P, Shipley K, Erdahl LM, Sugg SL, Weigel RJ, Lizarraga IM.
    • Am J Surg. 2019 Jun 19. pii: S0002-9610(19)30247-8. doi: 10.1016/j.amjsurg.2019.06.012. [Epub ahead of print]
    • AstraZeneca, Merck's Lynparza, Myriad Genetics' BRCA Test Approved in Japan.
    • [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]

    Letter, Commentary:

    Bevacizumab As Maintenance Treatment in Patients With Ovarian Cancer: Wait for BRCA Testing.

    • European Commission Approves Lynparza for Advanced Ovarian Cancer With BRCA Mutations.
    • [No author given]
    • Precision Oncology News (GenomeWeb). 2019 Jun 18.
    • Prognostic factors value of germline and somatic brca in patients undergoing surgery for recurrent ovarian cancer with liver metastases.
    • Gallotta V, Conte C, D'Indinosante M, Capoluongo E, Minucci A, De Rose AM, Ardito F, Giuliante F, Di Giorgio A, Zannoni GF, Fagotti A, Margreiter C, Scambia G, Ferrandina G.
    • Eur J Surg Oncol. 2019 Jun 13. pii: S0748-7983(19)30517-7. doi: 10.1016/j.ejso.2019.06.023. [Epub ahead of print]
    • 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]
    • Uptake of testing for germline BRCA mutations in patients with non-mucinous epithelial ovarian cancers in Western Australia: a comparison of different genetic counseling methods.
    • Stearnes G, Nichols CB, Schofield L, O'Sullivan S, Pachter N, Cohen PA.
    • Int J Gynecol Cancer. 2019 May 17. pii: ijgc-2019-000389. doi: 10.1136/ijgc-2019-000389. [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]

    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]

    Letter, Comment:

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

    • Impact of BRCA1/2 gene mutations on survival of patients with pancreatic cancer: A case-series analysis.
    • Navarro EB, López EV, Quijano Y, Caruso R, Ferri V, Durand H, Cabrera IF, Reques ED, Ielpo B, Glagolieva AY, Plaza C.
    • Ann Hepatobiliary Pancreat Surg. 2019 May;23(2):200-205. doi: 10.14701/ahbps.2019.23.2.200. Epub 2019 May 31.
    • [Genetic Approach of Breast Cancer].
    • Takei J, Yamauchi H.
    • Gan To Kagaku Ryoho. 2019 May;46(5):831-837.
    • Review, [Article in Japanese]
    • 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.
    • 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.
    • Germline Genetic Testing in Advanced Prostate Cancer; Practices and Barriers: Survey Results from the Germline Genetics Working Group of the Prostate Cancer Clinical Trials Consortium.
    • Paller CJ, Antonarakis ES, Beer TM, Borno HT, Carlo MI, George DJ, Graff JN, Gupta S, Heath EI, Higano CS, McKay RR, Morgans AK, Patnaik A, Petrylak DP, Rettig MB, Ryan C, Taplin ME, Whang YE, Vinson J, Cheng HH, Giri VN; PCCTC Germline Genetics Working Group.
    • Clin Genitourin Cancer. 2019 Apr 18. pii: S1558-7673(19)30139-9. doi: 10.1016/j.clgc.2019.04.013. [Epub ahead of print]
    • Genetic counseling referral for ovarian cancer patients: a call to action.
    • Garcia C, Harrison K, Ring KL, Sullivan MW, Rauh LA, Modesitt SC.
    • Fam Cancer. 2019 Apr 16. doi: 10.1007/s10689-019-00129-5. [Epub ahead of print]
    • 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]
    • Prognostic Significance of CHEK2 Mutation in Progression of Breast Cancer.
    • Ansari N, Shahrabi S, Khosravi A, Shirzad R, Rezaeean H.
    • Lab Med. 2019 Apr 11. pii: lmz009. doi: 10.1093/labmed/lmz009. [Epub ahead of print]
    • Review
    • Comprehensive analysis of serum tumor markers and BRCA1/2 germline mutations in Chinese ovarian cancer patients.
    • Deng H, Chen M, Guo X, Heng J, Xu X, Peng L, Jiang H, Li G, Day JX, Li J, Shan D, Li Y, Zhou Y, Liu B, Dai L, Wang X, Wang J.
    • Mol Genet Genomic Med. 2019 Apr 10:e672. doi: 10.1002/mgg3.672. [Epub ahead of print]
    • Evaluation of telephone genetic counselling to facilitate germline BRCA1/2 testing in women with high-grade serous ovarian cancer.
    • Tutty E, Petelin L, McKinley J, Young MA, Meiser B, Rasmussen VM, Forbes Shepherd R, James PA, Forrest LE.
    • Eur J Hum Genet. 2019 Apr 8. doi: 10.1038/s41431-019-0390-9. [Epub ahead of print]
    • Myriad Genetics Expands CDx Collaboration with AstraZeneca, Merck & Co.
    • [No author given.]
    • Clinical Omics. 2019 Apr 4.
    • 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.
    • Germline BRCA1 Deletion as Driver Mutation for Metastatic Urachal Adenocarcinoma in Patient Who Achieved Complete Response to Rucaparib.
    • Seto T, Pujare D, Song MN, Lee J, Huber R, Sam D, Pan M.
    • J Oncol Pract. 2019 Apr 2:JOP1800708. doi: 10.1200/JOP.18.00708. [Epub ahead of print]
    • Case report
    • Evolving Role of Genomics in Genitourinary Neoplasms.
    • Devitt ME, Dreicer R.
    • Acta Med Acad. 2019 Apr;48(1):68-77. doi: 10.5644/ama2006-124.243.
    • Communication about genetic testing with breast and ovarian cancer patients: a scoping review.
    • Jacobs C, Patch C, Michie S.
    • Eur J Hum Genet. 2019 Apr;27(4):511-524. doi: 10.1038/s41431-018-0310-4. Epub 2018 Dec 20.
    • Genetic counselling of young women with breast cancer for Li-Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals.
    • Bakhuizen JJ, Velthuizen ME, Stehouwer S, Bleiker EM, Ausems MG.
    • Fam Cancer. 2019 Apr;18(2):231-239. doi: 10.1007/s10689-018-0103-5.
    • Disparities in gynecologic cancer genetics evaluation.
    • Hinchcliff EM, Bednar EM, Lu KH, Rauh-Hain JA.
    • Gynecol Oncol. 2019 Apr;153(1):184-191. doi: 10.1016/j.ygyno.2019.01.024. Epub 2019 Jan 31.
    • Review
    • 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.
    • Targeting DNA Repair Defects for Precision Medicine in Prostate Cancer.
    • Athie A, Arce-Gallego S, Gonzalez M, Morales-Barrera R, Suarez C, Casals Galobart T, Hernandez Viedma G, Carles J, Mateo J.
    • Curr Oncol Rep. 2019 Mar 27;21(5):42. doi: 10.1007/s11912-019-0790-6.
    • Review
    • 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.
    • Genomic profiling in pancreatic ductal adenocarcinoma and a pathway towards therapy individualization: A scoping review.
    • Singh RR, Goldberg J, Varghese AM, Yu KH, Park W, O'Reilly EM.
    • Cancer Treat Rev. 2019 Mar 22;75:27-38. doi: 10.1016/j.ctrv.2019.03.003. [Epub ahead of print]
    • Review
    • BRCA mutation testing for ovarian cancer in the context of available targeted therapy: Survey and consensus of Hong Kong specialists.
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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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    • Somatic mutations in BRCA1&2 in 201 unselected ovarian carcinoma samples - single institution study.
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    • Utility of Expedited Hereditary Cancer Testing in the Surgical Management of Patients with a New Breast Cancer Diagnosis.
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    • Ann Surg Oncol. 2018 Nov;25(12):3556-3562. doi: 10.1245/s10434-018-6581-8. Epub 2018 Aug 30.
    • BRCA Mutation Status to Personalize Management of Recurrent Ovarian Cancer: A Multicenter Study.
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    • Ann Surg Oncol. 2018 Nov;25(12):3701-3708. doi: 10.1245/s10434-018-6700-6. Epub 2018 Aug 20.

    Commentary:

    ASO Author Reflections: BRCA Mutation Status for Personalizing Management of Recurrent Ovarian Cancer-A Multicenter Study.

    • Identification of Incidental Germline Mutations in Patients With Advanced Solid Tumors Who Underwent Cell-Free Circulating Tumor DNA Sequencing.
    • Slavin TP, Banks KC, Chudova D, Oxnard GR, Odegaard JI, Nagy RJ, Tsang KWK, Neuhausen SL, Gray SW, Cristofanilli M, Rodriguez AA, Bardia A, Leyland-Jones B, Janicek MF, Lilly M, Sonpavde G, Lee CE, Lanman RB, Meric-Bernstam F, Kurzrock R, Weitzel JN.
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    • FDA Approves Myriad's BRACAnalysis CDx for Use with Pfizer's Talzenna.
    • [No author given]
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    • Surgeon attitude impacts rate of genetic testing after a breast cancer diagnosis.
    • [No author given]
    • FORCE. XRAYS. 2018 Oct 6.

    Association of Attending Surgeon With Variation in the Receipt of Genetic Testing After Diagnosis of Breast Cancer.

    • Association of Attending Surgeon With Variation in the Receipt of Genetic Testing After Diagnosis of Breast Cancer.
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    • JAMA Surg. 2018 Oct 1;153(10):909-916. doi: 10.1001/jamasurg.2018.2001.

    Commentary:

    Consideration of Population-Based BRCA Testing as a Strategy to Reduce Disparities in Genetic Counseling Referrals: The Importance of Stating (and Proving) the Obvious.

    Research News: Association of Attending Surgeon With Variation in the Receipt of Genetic Testing After Diagnosis of Breast Cancer. (FORCE, XRAYS)

    Research News: Surgeon Attitudes May Influence Genetic Testing for Patients With Breast Cancer. (Cancer Therapy Advisor)

    • Comprehensive Proteomic Profiling-derived Immunohistochemistry-based Prediction Models for BRCA1 and BRCA2 Germline Mutation-related Breast Carcinomas.
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    • Inherited gynaecological cancers.
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    • Review
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    • J Med Genet. 2018 Sep;55(9):571-577. doi: 10.1136/jmedgenet-2018-105472. Epub 2018 Jul 24.
    • Validation and Implementation of BRCA1/2 Variant Screening in Ovarian Tumor Tissue.
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    • Surgery for BRCA, TP53 and PALB2: a literature review.
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    • Review
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    • Hum Genomics. 2018 Aug 13;12(1):39. doi: 10.1186/s40246-018-0171-5.
    • Uptake, Results, and Outcomes of Germline Multiple-Gene Sequencing After Diagnosis of Breast Cancer.
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    • JAMA Oncol. 2018 Aug 1;4(8):1066-1072. doi: 10.1001/jamaoncol.2018.0644.

    Press: Multigene Sequencing Rapidly Replacing BRCA Tests. (Medscape Oncology)

    Letter, Comment:

    Cancer Risk Estimates for Study of Multiple-Gene Testing After Diagnosis of Breast Cancer.

    Letter, Reply:

    Cancer Risk Estimates for Study of Multiple-Gene Testing After Diagnosis of Breast Cancer-Reply.

    • Randomized trial of proactive rapid genetic counseling versus usual care for newly diagnosed breast cancer patients.
    • Schwartz MD, Peshkin BN, Isaacs C, Willey S, Valdimarsdottir HB, Nusbaum R, Hooker G, O'Neill S, Jandorf L, Kelly SP, Heinzmann J, Zidell A, Khoury K.
    • Breast Cancer Res Treat. 2018 Aug;170(3):517-524. doi: 10.1007/s10549-018-4773-3. Epub 2018 Apr 2.
    • FFPE breast tumour blocks provide reliable sources of both germline and malignant DNA for investigation of genetic determinants of individual tumour responses to treatment.
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    • Inadequate Rates of BRCA Testing with its Negative Consequences for Women with Epithelial Ovarian Cancer and their Families: an Overview of the Literature.
    • Hoskins PJ.
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    • Review
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    • BRCA1/2 testing: therapeutic implications for breast cancer management.
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    • Psychological outcomes and surgical decisions after genetic testing in women newly diagnosed with breast cancer with and without a family history.
    • Meiser B, Quinn VF, Mitchell G, Tucker K, Watts KJ, Rahman B, Peate M, Saunders C, Geelhoed E, Gleeson M, Barlow-Stewart K, Field M, Harris M, Antill YC, Susman R, Bowen MT, Mills L, Kirk J; TFGT Collaborative Group.
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    • High-resolution melting analysis coupled with next-generation sequencing as a simple tool for the identification of a novel somatic BRCA2 variant: a case report.
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    • Contralateral prophylactic mastectomy rate and predictive factors among patients with breast cancer who underwent multigene panel testing for hereditary cancer.
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    • Cancer Med. 2018 Jun;7(6):2718-2726. doi: 10.1002/cam4.1519. Epub 2018 May 7.
    • Metachronous Medulloblastoma in a Child With Successfully Treated Neuroblastoma: Case Report and Novel Findings of DNA Sequencing.
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    • Patients' Views of Treatment-Focused Genetic Testing (TFGT): Some Lessons for the Mainstreaming of BRCA1 and BRCA2 Testing.
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    • Genetic Diagnosis before Surgery has an Impact on Surgical Decision in BRCA Mutation Carriers with Breast Cancer.
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    • Main implications related to the switch to BRCA1/2 tumor testing in ovarian cancer patients: a proposal of a consensus.
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    • Review, [Article in Japanese]
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    • A population-based analysis of germline BRCA1 and BRCA2 testing among ovarian cancer patients in an era of histotype-specific approaches to ovarian cancer prevention.
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    • Review
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    • Database report
    • FDA Approval of PARP Inhibitors and the Impact on Genetic Counseling and Genetic Testing Practices.
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    • Cancer Genetic Counseling and Testing: Perspectives of Epithelial Ovarian Cancer Patients and Gynecologic Oncology Healthcare Providers.
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    • Review
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    • Khiabanian H, Hirshfield KM, Goldfinger M, Bird S, Stein M, Aisner J, Toppmeyer D, Wong S, Chan N, Dhar K, Gheeya J, Vig H, Hadigol M, Pavlick D, Ansari S, Ali S, Xia B, Rodriguez-Rodriguez L, Ganesan S.
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    • Clin Cancer Res. 2017 Dec 15;23(24):7521-7530. doi: 10.1158/1078-0432.CCR-17-1941.
    • FDA Approval Summary: Rucaparib for the Treatment of Patients with Deleterious BRCA Mutation-Associated Advanced Ovarian Cancer.
    • Balasubramaniam S, Beaver JA, Horton S, Fernandes LL, Tang S, Horne HN, Liu J, Liu C, Schrieber SJ, Yu J, Song P, Pierce W, Robertson KJ, Palmby TR, Chiu HJ, Lee EY, Philip R, Schuck R, Charlab R, Banerjee A, Chen XH, Wang X, Goldberg KB, Sridhara R, Kim G, Pazdur R.
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    • Summary
    • Tolerance and toxicity of the PARP inhibitor olaparib in older women with epithelial ovarian cancer.
    • Dockery LE, Tew WP, Ding K, Moore KN.
    • Gynecol Oncol. 2017 Dec;147(3):509-513. doi: 10.1016/j.ygyno.2017.10.007. Epub 2017 Oct 14.
    • Universal BRCA1/BRCA2 Testing for Ovarian Cancer Patients is Welcomed, but with Care: How Women and Staff Contextualize Experiences of Expanded Access.
    • Shipman H, Flynn S, MacDonald-Smith CF, Brenton J, Crawford R, Tischkowitz M; GTEOC Study Group, Hulbert-Williams NJ.
    • J Genet Couns. 2017 Dec;26(6):1280-1291. doi: 10.1007/s10897-017-0108-5. Epub 2017 May 24.
    • Rapid genetic counseling and testing in newly diagnosed breast cancer: Patients' and health professionals' attitudes, experiences, and evaluation of effects on treatment decision making.
    • Wevers MR, Aaronson NK, Bleiker EMA, Hahn DEE, Brouwer T, van Dalen T, Theunissen EB, van Ooijen B, de Roos MA, Borgstein PJ, Vrouenraets BC, Vriens E, Bouma WH, Rijna H, Vente JP, Kuenen MA, van der Sanden-Melis J, Witkamp AJ, Rutgers EJT, Verhoef S, Ausems MGEM.
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    • Non-BRCA1/2 Breast Cancer Susceptibility Genes: A New Frontier with Clinical Consequences for Plastic Surgeons.
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    • BRCA mutations in the manifestation and treatment of ovarian cancer.
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    • Detection of BRCA1/2 mutations in circulating tumor DNA from patients with ovarian cancer.
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    • Review
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    • Editorial, Review
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    • Gynecol Oncol. 2017 Oct;147(1):110-114. doi: 10.1016/j.ygyno.2017.07.141. Epub 2017 Aug 8.
    • Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing.
    • Mandelker D, Zhang L, Kemel Y, Stadler ZK, Joseph V, Zehir A, Pradhan N, Arnold A, Walsh MF, Li Y, Balakrishnan AR, Syed A, Prasad M, Nafa K, Carlo MI, Cadoo KA, Sheehan M, Fleischut MH, Salo-Mullen E, Trottier M, Lipkin SM, Lincoln A, Mukherjee S, Ravichandran V, Cambria R, Galle J, Abida W, Arcila ME, Benayed R, Shah R, Yu K, Bajorin DF, Coleman JA, Leach SD, Lowery MA, Garcia-Aguilar J, Kantoff PW, Sawyers CL, Dickler MN, Saltz L, Motzer RJ, O'Reilly EM, Scher HI, Baselga J, Klimstra DS, Solit DB, Hyman DM, Berger MF, Ladanyi M, Robson ME, Offit K.
    • JAMA. 2017 Sep 5;318(9):825-835. doi: 10.1001/jama.2017.11137.

    Editorial:

    The Potential and Challenges of Expanded Germline Testing in Clinical Oncology.

    Press: Study Shows More Cancer Mutations Detected by Universal Sequencing. (Clinical Omics)

    Press: Expanding Germline Analyses to Prevent and Treat Cancers. (Medscape)

    • BRCA mutational status, initial disease presentation, and clinical outcome in high-grade serous advanced ovarian cancer: a multicenter study.
    • Petrillo M, Marchetti C, De Leo R, Musella A, Capoluongo E, Paris I, Benedetti Panici P, Scambia G, Fagotti A.
    • Am J Obstet Gynecol. 2017 Sep;217(3):334.e1-334.e9. doi: 10.1016/j.ajog.2017.05.036. Epub 2017 May 23.
    • A universal genetic testing initiative for patients with high-grade, non-mucinous epithelial ovarian cancer and the implications for cancer treatment.
    • Bednar EM, Oakley HD, Sun CC, Burke CC, Munsell MF, Westin SN, Lu KH.
    • Gynecol Oncol. 2017 Aug;146(2):399-404. doi: 10.1016/j.ygyno.2017.05.037. Epub 2017 Jun 10.
    • BRCA mutation in ovarian cancer: testing, implications and treatment considerations.
    • Neff RT, Senter L, Salani R.
    • Ther Adv Med Oncol. 2017 Aug;9(8):519-531. doi: 10.1177/1758834017714993. Epub 2017 Jun 19.
    • Preoperative genetic testing impacts surgical decision making in BRCA mutation carriers with breast cancer: a retrospective cohort analysis.
    • Yadav S, Reeves A, Campian S, Sufka A, Zakalik D.
    • Hered Cancer Clin Pract. 2017 Jul 26;15:11. doi: 10.1186/s13053-017-0071-z. eCollection 2017.
    • Biological and clinical evidence for somatic mutations in BRCA1 and BRCA2 as predictive markers for olaparib response in high-grade serous ovarian cancers in the maintenance setting.
    • Dougherty BA, Lai Z, Hodgson DR, Orr MCM, Hawryluk M, Sun J, Yelensky R, Spencer SK, Robertson JD, Ho TW, Fielding A, Ledermann JA, Barrett JC.
    • Oncotarget. 2017 Jul 4;8(27):43653-43661. doi: 10.18632/oncotarget.17613.

    Research news:

    Olaparib and somatic BRCA mutations.

    • Interest and Attitudes of Patients With Advanced Cancer With Regard to Secondary Germline Findings From Tumor Genomic Profiling.
    • Hamilton JG, Shuk E, Genoff MC, Rodríguez VM, Hay JL, Offit K, Robson ME.
    • J Oncol Pract. 2017 Jul;13(7):e590-e601. doi: 10.1200/JOP.2016.020057. Epub 2017 Jun 19.

    Medscape-style free full text: Interest and Attitudes of Patients With Advanced Cancer With Regard to Secondary Germline Findings From Tumor Genomic Profiling. (Medscape)

    • Identification of BRCA1 As a Potential Biomarker for Insulin-Like Growth Factor-1 Receptor Targeted Therapy in Breast Cancer.
    • Cohen-Sinai T, Cohen Z, Werner H, Berger R.
    • Front Endocrinol (Lausanne). 2017 Jun 29;8:148. doi: 10.3389/fendo.2017.00148. eCollection 2017.
    • Rucaparib: the past, present, and future of a newly approved PARP inhibitor for ovarian cancer.
    • Dockery LE, Gunderson CC, Moore KN.
    • Onco Targets Ther. 2017 Jun 19;10:3029-3037. doi: 10.2147/OTT.S114714. eCollection 2017.
    • Metastatic Breast Cancer with BRCA Mutation Discovered By Next-Generation Sequencing Responding to Olaparib.
    • Rizvi W, Truong P, Truong Q.
    • Cureus. 2017 Jun 11;9(6):e1337. doi: 10.7759/cureus.1337.
    • Genetic Testing in Patients With Newly Diagnosed Breast Cancer: Room for Improvement.
    • Ahn S, Port ER.
    • J Clin Oncol. 2017 Jul 10;35(20):2221-2223. doi: 10.1200/JCO.2017.72.8816. Epub 2017 Apr 14.
    • Germline and somatic mutations in homologous recombination genes among Chinese ovarian cancer patients detected using next-generation sequencing.
    • Zhao Q, Yang J, Li L, Cao D, Yu M, Shen K; BGI Group.
    • J Gynecol Oncol. 2017 Jul;28(4):e39. doi: 10.3802/jgo.2017.28.e39.
    • Systemic Treatment Strategies for Patients with Hereditary Breast Cancer Syndromes.
    • Parkes A, Arun BK, Litton JK.
    • Oncologist. 2017 Jun;22(6):655-666. doi: 10.1634/theoncologist.2016-0430. Epub 2017 May 3.
    • Review
    • Guidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer Patients.
    • Capoluongo E, Ellison G, López-Guerrero JA, Penault-Llorca F, Ligtenberg MJL, Banerjee S, Singer C, Friedman E, Markiefka B, Schirmacher P, Büttner R, van Asperen CJ, Ray-Coquard I, Endris V, Kamel-Reid S, Percival N, Bryce J, Röthlisberger B, Soong R, de Castro DG.
    • Semin Oncol. 2017 Jun;44(3):187-197. doi: 10.1053/j.seminoncol.2017.08.004. Epub 2017 Sep 15.
    • Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing.
    • Cheng DT, Prasad M, Chekaluk Y, Benayed R, Sadowska J, Zehir A, Syed A, Wang YE, Somar J, Li Y, Yelskaya Z, Wong D, Robson ME, Offit K, Berger MF, Nafa K, Ladanyi M, Zhang L.
    • BMC Med Genomics. 2017 May 19;10(1):33. doi: 10.1186/s12920-017-0271-4.
    • Next-generation sequencing of BRCA1/2 in breast cancer patients: potential effects on clinical decision-making using rapid, high-accuracy genetic results.
    • Park HS, Park SJ, Kim JY, Kim S, Ryu J, Sohn J, Park S, Kim GM, Hwang IS, Choi JR, Kim SI.
    • Ann Surg Treat Res. 2017 May;92(5):331-339. doi: 10.4174/astr.2017.92.5.331. Epub 2017 Apr 27.
    • Delivering widespread BRCA testing and PARP inhibition to patients with ovarian cancer.
    • George A, Kaye S, Banerjee S.
    • Nat Rev Clin Oncol. 2017 May;14(5):284-296. doi: 10.1038/nrclinonc.2016.191. Epub 2016 Dec 13.
    • Review
    • Myriad to Use BRACAnalysis CDx as Companion Diagnostic for Clovis' Ovarian Cancer Treatment.
    • [No author given]
    • Clinical Omics. 2017 Apr 27.
    • Streamlined genetic education is effective in preparing women newly diagnosed with breast cancer for decision making about treatment-focused genetic testing: a randomized controlled noninferiority trial.
    • Quinn VF, Meiser B, Kirk J, Tucker KM, Watts KJ, Rahman B, Peate M, Saunders C, Geelhoed E, Gleeson M, Barlow-Stewart K, Field M, Harris M, Antill YC, Cicciarelli L, Crowe K, Bowen MT, Mitchell G
    • Genet Med. 2017 Apr;19(4):448-456. doi: 10.1038/gim.2016.130. Epub 2016 Sep 29.
    • [BRCA diagnostics of ovarian cancer : Molecular tumor testing since the introduction of PARP inhibitor therapy].
    • Löser H, Heydt C, Büttner R, Markiefka B.
    • Pathologe. 2017 Mar;38(2):117-126. doi: 10.1007/s00292-017-0274-0.
    • Review, [Article in German]
    • 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.
    • Integrating genomic information and signaling dynamics for efficient cancer therapy.
    • Stewart-Ornstein J, Lahav G.
    • Curr Opin Syst Biol. 2017 Feb;1:38-43. doi: 10.1016/j.coisb.2016.12.013. Epub 2016 Dec 19.
    • Current perspectives on recommendations for BRCA genetic testing in ovarian cancer patients.
    • Vergote I, Banerjee S, Gerdes AM, van Asperen C, Marth C, Vaz F, Ray-Coquard I, Stoppa-Lyonnet D, Gonzalez-Martin A, Sehouli J, Colombo N.
    • Eur J Cancer. 2016 Dec;69:127-134. doi: 10.1016/j.ejca.2016.10.006. Epub 2016 Nov 4.
    • Review
    • Impact that Timing of Genetic Mutation Diagnosis has on Surgical Decision Making and Outcome for BRCA1/BRCA2 Mutation Carriers with Breast Cancer.
    • Chiba A, Hoskin TL, Hallberg EJ, Cogswell JA, Heins CN, Couch FJ, Boughey JC.
    • Ann Surg Oncol. 2016 Oct;23(10):3232-8. doi: 10.1245/s10434-016-5328-7. Epub 2016 Jun 23.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Impact of Timing of BRCA Testing

    • Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients.
    • Pinto C, Bella MA, Capoluongo E, Carrera P, Clemente C, Colombo N, Cortesi L, De Rosa G, Fenizia F, Genuardi M, Gori S, Guarneri V, Marchetti A, Marchetti P, Normanno N, Pasini B, Pignata S, Radice P, Ricevuto E, Russo A, Tagliaferri P, Tassone P, Truini M, Varesco L.
    • Future Oncol. 2016 Sep;12(18):2071-5. doi: 10.2217/fon-2016-0189. Epub 2016 May 31.
    • All women with ovarian cancer should be offered genetic testing – so why aren’t they?
    • Emma Smith
    • Science Blog. Cancer Research UK. 2016 Aug 17.
    • Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients.
    • George A, Riddell D, Seal S, Talukdar S, Mahamdallie S, Ruark E, Cloke V, Slade I, Kemp Z, Gore M, Strydom A, Banerjee S, Hanson H, Rahman N.
    • Sci Rep. 2016 Jul 13;6:29506. doi: 10.1038/srep29506.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Are We Just A Bunch of Health Care Money-Wasters Who Are Indirectly Responsible For People Getting Preventable Cancers?

    News:

    Streamlined genetic testing pathway is developed for women with ovarian cancer.

    Press: Simplified the Process. (GenomeWeb)

    Press: All women with ovarian cancer should be offered genetic testing – so why aren’t they? (Science Blog)

    • The integration of BRCA testing into oncology clinics.
    • Percival N, George A, Gyertson J, Hamill M, Fernandes A, Davies E, Rahman N, Banerjee S.
    • Br J Nurs. 2016 Jun 23;25(12):690-4. doi: 10.12968/bjon.2016.25.12.690.
    • BRCA1 and BRCA2 Mutation Testing in Young Women With Breast Cancer.
    • Rosenberg SM, Ruddy KJ, Tamimi RM, Gelber S, Schapira L, Come S, Borges VF, Larsen B, Garber JE, Partridge AH.
    • JAMA Oncol. 2016 Jun 1;2(6):730-6. doi: 10.1001/jamaoncol.2015.5941.

    Editorial

    Increased Reach of Genetic Cancer Risk Assessment as a Tool for Precision Management of Hereditary Breast Cancer.

    Press: BRCA Mutation Testing Increasing in Younger Women (Medscape Oncology)

    Press: More than 'Angelina Jolie Effect': BRCA tests spike among breast cancer patients. (Fred Hutch News Service)

    Press: More Young Women With Breast Cancer Are Undergoing Genetic Testing, Study Finds. (GenomeWeb)

    • Does rapid genetic counseling and testing in newly diagnosed breast cancer patients cause additional psychosocial distress? results from a randomized clinical trial.
    • Wevers MR, Ausems MG, Verhoef S, Bleiker EM, Hahn DE, Brouwer T, Hogervorst FB, van der Luijt RB, van Dalen T, Theunissen EB, van Ooijen B, de Roos MA, Borgstein PJ, Vrouenraets BC, Vriens E, Bouma WH, Rijna H, Vente JP, Kieffer JM, Valdimarsdottir HB, Rutgers EJ, Witkamp AJ, Aaronson NK.
    • Genet Med. 2016 Feb;18(2):137-144. doi: 10.1038/gim.2015.50. Epub 2015 Apr 23.
    • BRCA somatic and germline mutation detection in paraffin embedded ovarian cancers by next-generation sequencing.
    • Mafficini A, Simbolo M, Parisi A, Rusev B, Luchini C, Cataldo I, Piazzola E, Sperandio N, Turri G, Franchi M, Tortora G, Bovo C, Lawlor RT, Scarpa A.
    • Oncotarget. 2016 Jan 12;7(2):1076-83. doi: 10.18632/oncotarget.6834.
    • 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
    • Treatment Decision Making and Genetic Testing for Breast Cancer: Mainstreaming Mutations.
    • Katz SJ, Kurian AW, Morrow M.
    • JAMA. 2015 Sep 8;314(10):997-998. doi: 10.1001/jama.2015.8088.
    • Editorial / Commentary
    • Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.
    • Ellingson MS, Hart SN, Kalari KR, Suman V, Schahl KA, Dockter TJ, Felten SJ, Sinnwell JP, Thompson KJ, Tang X, Vedell PT, Barman P, Sicotte H, Eckel-Passow JE, Northfelt DW, Gray RJ, McLaughlin SA, Moreno-Aspitia A, Ingle JN, Moyer AM, Visscher DW, Jones K, Conners A, McDonough M, Wieben ED, Wang L, Weinshilboum R, Boughey JC, Goetz MP.
    • Breast Cancer Res Treat. 2015 Sep;153(2):435-43. doi: 10.1007/s10549-015-3545-6. Epub 2015 Aug 22.
    • BRACAnalysis CDx as a companion diagnostic tool for Lynparza.
    • Gunderson CC, Moore KN.
    • Expert Rev Mol Diagn. 2015 Sep;15(9):1111-6. doi: 10.1586/14737159.2015.1078238. Epub 2015 Aug 13.
    • Review
    • Clinical Sequencing Contributes to a BRCA-Associated Cancer Rediagnosis That Guides an Effective Therapeutic Course.
    • Chapman JS, Asthana S, Cade L, Chang MT, Wang Z, Zaloudek CJ, Ueda S, Collisson EA, Taylor BS.
    • J Natl Compr Canc Netw. 2015 Jul;13(7):835-45.
    • FDA Approval — How Does it Relate to Germline Genetic Testing?
    • Laura Panos, Sara Gilvary
    • Coding Corner, Perspectives in Genetic Counseling, Volume 37, Number 2, p. 19. 2015 Qtr 2.
    • Health professionals' evaluation of delivering treatment-focused genetic testing to women newly diagnosed with breast cancer.
    • Douma KF, Meiser B, Kirk J, Mitchell G, Saunders C, Rahman B, Sousa MS, Barlow-Stewart K, Gleeson M, Tucker K.
    • Fam Cancer. 2015 Jun;14(2):265-72. doi: 10.1007/s10689-014-9770-z.
    • The sooner the better: Genetic testing following ovarian cancer diagnosis.
    • Fox E, McCuaig J, Demsky R, Shuman C, Chitayat D, Maganti M, Murphy J, Rosen B, Ferguson S, Randall Armel S.
    • Gynecol Oncol. 2015 Jun;137(3):423-9. doi: 10.1016/j.ygyno.2015.03.057. Epub 2015 Apr 11.
    • A reliable method for the detection of BRCA1 and BRCA2 mutations in fixed tumour tissue utilising multiplex PCR-based targeted next generation sequencing.
    • Ellison G, Huang S, Carr H, Wallace A, Ahdesmaki M, Bhaskar S, Mills J.
    • BMC Clin Pathol. 2015 Mar 24;15:5. doi: 10.1186/s12907-015-0004-6. eCollection 2015.
    • Preoperative genetic testing affects surgical decision making in breast cancer patients
    • Elizabeth Lokich, Ashley Stuckey, Christina Raker, Jennifer Scalia Wilber, Jessica Laprise, Jennifer Gass
    • Gynecologic Oncology, 2015 Feb;136(2):410. 2014 NEAGO Abstracts. doi: 10.1016/j.ygyno.2014.11.067.
    • Conference abstract
    • Preoperative genetic testing affects surgical decision making in breast cancer patients.
    • Lokich E, Stuckey A, Raker C, Wilbur JS, Laprise J, Gass J.
    • Gynecol Oncol. 2014 Aug;134(2):326-30. doi: 10.1016/j.ygyno.2014.05.028. Epub 2014 Jun 5.
    • Opportunities and challenges of next-generation DNA sequencing for breast units.
    • Pilgrim SM, Pain SJ, Tischkowitz MD.
    • Br J Surg. 2014 Jul;101(8):889-98. doi: 10.1002/bjs.9458. Epub 2014 Mar 27.

    News

    Transforming Breast Cancer Care with NGS

    • Active approach for breast cancer genetic counseling during radiotherapy: long-term psychosocial and medical impact.
    • Baars JE, Bleiker EM, van Riel E, Rodenhuis CC, Velthuizen ME, Schlich KJ, Ausems MG.
    • Clin Genet. 2014 Jun;85(6):524-31. doi: 10.1111/cge.12335. Epub 2014 Feb 4.
    • Breast cancer in women at high risk: the role of rapid genetic testing for BRCA1 and -2 mutations and the consequences for treatment strategies.
    • Francken AB, Schouten PC, Bleiker EM, Linn SC, Rutgers EJ.
    • Breast. 2013 Oct;22(5):561-8. doi: 10.1016/j.breast.2013.07.045. Epub 2013 Aug 21.
    • Review
    • Charity calls for routine BRCA testing of ovarian cancer patients.
    • Wise J.
    • BMJ. 2013 Sep 17;347:f5664. doi: 10.1136/bmj.f5664.
    • News
    • Occult cancer: suspected breast and BRCA gene mutations.
    • Mollie L. Hutton, Nicoleta C. Voian, Carolyn D. Farrell.
    • Community Oncology. 10(7):202-8. 2013 Jul.
    • Oncology health professionals' attitudes toward treatment-focused genetic testing for women newly diagnosed with breast cancer.
    • Burcher S, Meiser B, Mitchell G, Saunders C, Rahman B, Tucker K, Barlow-Stewart K, Watts K, Gleeson M, Kirk J.
    • Per Med. 2013 Jul;10(5):431-440. doi: 10.2217/pme.13.45.
    • Cost-effectiveness of BRCA1 and BRCA2 mutation testing to target PARP inhibitor use in platinum-sensitive recurrent ovarian cancer.
    • Secord AA, Barnett JC, Ledermann JA, Peterson BL, Myers ER, Havrilesky LJ.
    • Int J Gynecol Cancer. 2013 Jun;23(5):846-52. doi: 10.1097/IGC.0b013e31829527bd.
    • Genetic predisposition syndromes and their management.
    • Euhus DM, Robinson L.
    • Surg Clin North Am. 2013 Apr;93(2):341-62. doi: 10.1016/j.suc.2013.01.005. Epub 2013 Feb 11.
    • Review
    • NICE launches consultation on familial breast cancer guidelines.
    • Simon Leese.
    • PHG Foundation. 2013 Jan 15.
    • PARP Inhibitors: Targeting the Right Patients.
    • Azvolinsky A.
    • J Natl Cancer Inst. 2012 Dec 19;104(24):1851-2. doi: 10.1093/jnci/djs514. Epub 2012 Dec 10.
    • Are we being overly cautious? A qualitative inquiry into the experiences and perceptions of treatment-focused germline BRCA genetic testing amongst women recently diagnosed with breast cancer.
    • Zilliacus E, Meiser B, Gleeson M, Watts K, Tucker K, Lobb EA, Mitchell G.
    • Support Care Cancer. 2012 Nov;20(11):2949-58. doi: 10.1007/s00520-012-1427-6. Epub 2012 Mar 24.
    • Genetic risk assessments in individuals at high risk for inherited breast cancer in the breast oncology care setting.
    • Pal T, Vadaparampil ST.
    • Cancer Control. 2012 Oct;19(4):255-66.
    • Breast cancer genetic counseling after diagnosis but before treatment: A pilot study on treatment consequences and psychological impact.
    • Wevers MR, Hahn DE, Verhoef S, Bolhaar MD, Ausems MG, Aaronson NK, Bleiker EM.
    • Patient Educ Couns. 2012 Oct;89(1):89-95. doi: 10.1016/j.pec.2012.03.019. Epub 2012 Apr 28.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Article requests

    • How should we discuss genetic testing with women newly diagnosed with breast cancer? Design and implementation of a randomized controlled trial of two models of delivering education about treatment-focused genetic testing to younger women newly diagnosed with breast cancer.
    • Watts KJ, Meiser B, Mitchell G, Kirk J, Saunders C, Peate M, Duffy J, Kelly PJ, Gleeson M, Barlow-Stewart K, Rahman B, Friedlander M, Tucker K; TFGT Collaborative Group.
    • BMC Cancer. 2012 Jul 28;12:320. doi: 10.1186/1471-2407-12-320.
    • Getting to the point: what women newly diagnosed with breast cancer want to know about treatment-focused genetic testing.
    • Meiser B, Gleeson M, Watts K, Peate M, Zilliacus E, Barlow-Stewart K, Saunders C, Mitchell G, Kirk J.
    • Oncol Nurs Forum. 2012 Mar;39(2):E101-11. doi: 10.1188/12.ONF.E101-E111.
    • Using tumour pathology to identify people at high genetic risk of breast and colorectal cancers.
    • Hopper JL, Jenkins MA, Dowty JG, Dite GS, Apicella C, Keogh L, Win AK, Young JP, Buchanan D, Walsh MD, Rosty C, Baglietto L, Severi G, Phillips KA, Wong EM, Dobrovic A, Waring P, Winship I, Ramus SJ, Giles GG, Southey MC.
    • Pathology. 2012 Feb;44(2):89-98. doi: 10.1097/PAT.0b013e32834e8e5b.
    • Review
    • Will Chinese ovarian cancer patients benefit from knowing the BRCA2 mutation status?
    • Liu GY, Zhang W.
    • Chin J Cancer. 2012 Jan;31(1):1-4. doi: 10.5732/cjc.011.10432. Epub 2011 Dec 16.
    • There is no decision to make: experiences and attitudes toward treatment-focused genetic testing among women diagnosed with ovarian cancer.
    • Meiser B, Gleeson M, Kasparian N, Barlow-Stewart K, Ryan M, Watts K, Menon D, Mitchell G, Tucker K.
    • Gynecol Oncol. 2012 Jan;124(1):153-7. doi: 10.1016/j.ygyno.2011.09.040. Epub 2011 Oct 26.