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- Double heterozygosity for TP53 and BRCA1 mutations: clinical implications in populations with founder mutations.
- Shani H, Bernstein-Molho R, Laitman Y, Netzer I, Friedman E.
- Breast Cancer Res Treat. 2021 Jan 15. doi: 10.1007/s10549-020-06084-5. Epub ahead of print.
- PMID: 33449224
- PubMed abstract
- Source abstract
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- FLABRA, frontline approach for BRCA testing in an ovarian cancer population: a Latin America epidemiologic study.
- Giornelli G, Gallardo D, Hegg R, Abuin GG, La Vega M, Lim-Law M, Caceres V, Trujillo L, Pilar Estevez-Diz MD, Pacheco C, Sganga L, Goncalves S.
- Future Oncol. 2021 Jan 8. doi: 10.2217/fon-2020-1152. Epub ahead of print.
- PMID: 33415992
- PubMed abstract
- Source abstract
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- Risk assessment and genetic counseling for hereditary breast and ovarian cancer syndromes-Practice resource of the National Society of Genetic Counselors.
- Berliner JL, Cummings SA, Boldt Burnett B, Ricker CN.
- J Genet Couns. 2021 Jan 7. doi: 10.1002/jgc4.1374. Epub ahead of print.
- PMID: 33410258
- PubMed abstract
- Source abstract
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- Generating real-world evidence from unstructured clinical notes to examine clinical utility of genetic tests: use case in BRCAness.
- Zhao Y, Weroha SJ, Goode EL, Liu H, Wang C.
- BMC Med Inform Decis Mak. 2021 Jan 6;21(1):3. doi: 10.1186/s12911-020-01364-y.
- PMID: 33407429
- PubMed abstract
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- Reliable assessment of BRCA1 and BRCA2 germline variants by next-generation sequencing: a multicenter study.
- Zhang R, Gao P, Han Y, Zhang R, Tan P, Zhou L, Zhang J, Xie J, Li J.
- Breast Cancer. 2021 Jan 5. doi: 10.1007/s12282-020-01204-x. Epub ahead of print.
- PMID: 33400207
- PubMed abstract
- Source abstract
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- Comprehensive evaluation of BRCA1/2 variant interpretation ability among laboratories in China.
- Shao K, Wang R, Qu S, Zhang W, Yu T, Cao B, Dai P, Zhu A, Zhang J, Wang J, Wang L, Zhu S, Wu K, Yang X, Chang X, Chen F, Huang J.
- J Med Genet. 2021 Jan 4:jmedgenet-2020-107360. doi: 10.1136/jmedgenet-2020-107360. Epub ahead of print.
- PMID: 33397747
- PubMed abstract
- Source abstract
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- BRCA testing and outcomes in women with breast cancer.
- Stenehjem DD, Telford C, Unni SK, Bauer H, Sainski A, Deka R, Schauerhamer MB, Ye X, Tak CR, Ma J, Dalvi TB, Gutierrez L, Kaye JA, Tyczynski JE, Brixner DI, Biskupiak JE.
- Breast Cancer Res Treat. 2021 Jan 3. doi: 10.1007/s10549-020-06038-x. Epub ahead of print.
- PMID: 33389410
- PubMed abstract
- Source abstract
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- Increased ease of access to genetic counseling for low-income women with breast cancer using a point of care screening tool.
- Rao SK, Thomas KA, Singh R, Biltibo E, Lammers PE, Wiesner GL.
- J Community Genet. 2021 Jan 3. doi: 10.1007/s12687-020-00499-9. Epub ahead of print.
- PMID: 33389527
- PubMed abstract
- Source abstract
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- Clinical Implications of Germline Testing in Newly Diagnosed Prostate Cancer.
- Loeb S, Giri VN.
- Eur Urol Oncol. 2020 Dec 31:S2588-9311(20)30207-8. doi: 10.1016/j.euo.2020.11.011. Epub ahead of print.
- PMID: 33390340
- PubMed abstract
- Review
- Free Full Text
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- My Gene Counsel and Genomet Announce Product Partnership to Transform Cancer Care Around the Globe.
- [No author given]
- My Gene Counsel. Press Releases. 2020 Dec 29.
- Press release
- Free Full Text
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- My Gene Counsel, Genomet Develop Decision Support Solution for Precision Cancer Care.
- [No author given]
- Precision Oncology News. 2020 Dec 29.
- News
- Free Full Text
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- 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.
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- Globally rare BRCA2 variants with founder haplotypes in the South African population: Implications for point-of-care testing based on a single-institution BRCA1/2 next-generation sequencing study.
- Oosthuizen J, Kotze MJ, Van Der Merwe NV, Myburgh EJ, Bester P, Van Der Merwe NC.
- Front Oncol. 2020 Dec 23;10:619469. doi: 10.3389/fonc.2020.619469.
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- Cost effectiveness of whole population BRCA genetic screening for cancer prevention in Israel.
- Michaan N, Leshno M, Safra T, Sonnenblick A, Laskov I, Grisaru D.
- Cancer Prev Res (Phila). 2020 Dec 22:canprevres.0411.2020. doi: 10.1158/1940-6207.CAPR-20-0411. Epub ahead of print.
- PMID: 33355193
- PubMed abstract
- Source abstract
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- Examining the uptake of predictive BRCA testing in the UK; findings and implications.
- Martin AP, Downing J, Collins B, Godman B, Alfirevic A, Greenhalgh KL, Pirmohamed M.
- Eur J Hum Genet. 2020 Dec 16. doi: 10.1038/s41431-020-00783-9. Epub ahead of print.
- PMID: 33328582
- PubMed abstract
- Source abstract
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- Mutational Landscape for Indian Hereditary Breast and Ovarian Cancer cohort suggests need for identifying population specific genes and biomarkers for screening.
- Shaad M, Patel K, Bhargava PA, Shah FD, Badgujar NV, Tarapara BV, Patel PS, Shaikh I, Shah K, Patel A, Pandya S, Vora H, Joshi CG, Joshi M.
- Front Oncol. 2020 Dec 2;10:568786. doi: 10.3389/fonc.2020.568786.
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- DNA damage repair gene mutation testing and genetic counseling in men with/without prostate cancer: a systematic review.
- Armstrong N, Quek RG, Ryder S, Ross J, Titas Buksnys, Forbes C, Fox KM, Castro E.
- Future Oncol. 2020 Dec 2. doi: 10.2217/fon-2020-0569. Epub ahead of print.
- PMID: 33263430
- PubMed abstract
- Source abstract
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- Women’s Intentions to Engage in Risk-Reducing Behaviours after Receiving Personal Ovarian Cancer Risk Information: An Experimental Survey Study.
- Gallagher A, Waller J, Manchanda R, Jacobs I, Sanderson S.
- Cancers (Basel). 2020 Nov 27;12(12):E3543. doi: 10.3390/cancers12123543.
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- Communication about positive BRCA1 and BRCA2 genetic test results and uptake of testing in relatives in a diverse Asian setting.
- Lee DS, Meiser B, Mariapun S, Hassan T, Yip CH, Mohd Taib NA, Teo SH, Thong MK, Yoon SY.
- J Genet Couns. 2020 Nov 27. doi: 10.1002/jgc4.1360. Epub ahead of print.
- PMID: 33245177
- PubMed abstract
- Source abstract
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- Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants.
- Leitsalu L, Palover M, Sikka TT, Reigo A, Kals M, Pärn K, Nikopensius T, Esko T, Metspalu A, Padrik P, Tõnisson N.
- Eur J Hum Genet. 2020 Nov 23. doi: 10.1038/s41431-020-00760-2. Epub ahead of print.
- PMID: 33230308
- PubMed abstract
- Source abstract
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- BRCA gene testing in women with high-grade serous ovarian carcinoma.
- Kansu B, Gardner J, Price-Tate R, Murch O, Murray A.
- J Obstet Gynaecol. 2020 Nov 23:1-4. doi: 10.1080/01443615.2020.1820466. Epub ahead of print.
- PMID: 33228436
- PubMed abstract
- Source abstract
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- Embedding a genetic counselor into oncology clinics improves testing rates and timeliness for women with ovarian cancer.
- Rana HQ, Kipnis L, Hehir K, Cronin A, Jaung T, Stokes SM, Fekrmandi F, Vatnick D, Matulonis UA, Garber JE, Wright AA.
- Gynecol Oncol. 2020 Nov 21:S0090-8258(20)34111-1. doi: 10.1016/j.ygyno.2020.11.003. Epub ahead of print.
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- Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer.
- Moreno-Cabrera JM, Valle J, Feliubadaló L, Pineda M, González S, Campos O, Cuesta R, Brunet J, Serra E, Capellàn G, Gel B, Lázaro C.
- J Med Genet. 2020 Nov 20:jmedgenet-2020-107366. doi: 10.1136/jmedgenet-2020-107366. Epub ahead of print.
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- Cancer Previvors in an Active Duty Service Women Population: An Opportunity for Prevention and Increased Force Readiness.
- Lovejoy LA, Turner CE, Shriver CD, Ellsworth RE.
- Mil Med. 2020 Nov 18:usaa485. doi: 10.1093/milmed/usaa485. Epub ahead of print.
- PMID: 33206196
- PubMed abstract
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- Population-Wide Hereditary Breast, Ovarian Cancer Screening in Younger Women is Cost-Effective.
- [No author given]
- Clinical OMICs. Molecular Dx. 2020 Nov 17.
- Research news
- Free full Text
Original research:
Cost-effectiveness of Population-Wide Genomic Screening for Hereditary Breast and Ovarian Cancer in the United States.
- PMID: 33119106
- PubMed abstract
- Free Full Text
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- Utility of a mainstreamed genetic testing pathway in breast and ovarian cancer patients during the COVID-19 pandemic.
- Benusiglio PR, Korenbaum C, Vibert R, Ezenfis J, Geoffron S, Paul C, Richard S, Byrde V, Lejeune M, Guillerm E, Basset N, Lotz JP, Chabbert-Buffet N, Gligorov J, Coulet F.
- Eur J Med Genet. 2020 Nov 10;63(12):104098. doi: 10.1016/j.ejmg.2020.104098. Epub ahead of print.
- PMID: 33186762
- PubMed abstract
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- Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome.
- Samadder NJ, Riegert-Johnson D, Boardman L, Rhodes D, Wick M, Okuno S, Kunze KL, Golafshar M, Uson PLS Jr, Mountjoy L, Ertz-Archambault N, Patel N, Rodriguez EA, Lizaola-Mayo B, Lehrer M, Thorpe CS, Yu NY, Esplin ED, Nussbaum RL, Sharp RR, Azevedo C, Klint M, Hager M, Macklin-Mantia S, Bryce AH, Bekaii-Saab TS, Sekulic A, Stewart KA.
- JAMA Oncol. 2020 Oct 30:e206252. doi: 10.1001/jamaoncol.2020.6252. Epub ahead of print.
- PMID: 33126242
- PubMed abstract
- Source abstract
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- The factors associated with distress a minimum of six months after BRCA1/2 confirmation: A systematic review.
- Butler E, Collier S, Hevey D.
- J Psychosoc Oncol. 2020 Oct 22:1-27. doi: 10.1080/07347332.2020.1836109. Epub ahead of print.
- PMID: 33089755
- PubMed abstract
- Source abstract
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- Germline testing for homologous recombination repair genes - opportunities and challenges.
- Hirsch S, Gieldon L, Sutter C, Dikow N, Schaaf CP.
- Genes Chromosomes Cancer. 2020 Oct 20. doi: 10.1002/gcc.22900. Epub ahead of print.
- PMID: 33078493
- PubMed abstract
- Source abstract
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- The role of TP53 pathogenic variants in early-onset HER2-positive breast cancer.
- Escudeiro C, Pinto C, Vieira J, Peixoto A, Pinto P, Pinheiro M, Santos C, Guerra J, Lisboa S, Santos R, Silva J, Leal C, Coimbra N, Lopes P, Ferreira M, Sousa AB, Teixeira MR.
- Fam Cancer. 2020 Oct 14. doi: 10.1007/s10689-020-00212-2. Epub ahead of print.
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- The mediating effects of public genomic knowledge in precision medicine implementation: A structural equation model approach.
- Mogaka JJO, Chimbari MJ.
- PLoS One. 2020 Oct 14;15(10):e0240585. doi: 10.1371/journal.pone.0240585.
- PMID: 33052984
- PubMed abstract
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- Should You Recommend Direct-to-Consumer Genetic Testing for This Patient? : Grand Rounds Discussion From Beth Israel Deaconess Medical Center.
- Smetana GW, Vassy JL, Hofstatter E, Libman H.
- Ann Intern Med. 2020 Oct 6;173(7):563-571. doi: 10.7326/M20-5419.
- PMID: 33017547
- PubMed abstract
- Source abstract
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- Knowledge and Attitudes About Genetic Testing Among Black and White Women with Breast Cancer.
- McCall MK, Ibikunle S, Murphy Y, Hunter K, Rosenzweig MQ.
- J Racial Ethn Health Disparities. 2020 Oct 6. doi: 10.1007/s40615-020-00878-5. Epub ahead of print.
- PMID: 33025420
- PubMed abstract
- Source abstract
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- Cost-effectiveness of Population-Wide Genomic Screening for Hereditary Breast and Ovarian Cancer in the United States.
- Guzauskas GF, Garbett S, Zhou Z, Spencer SJ, Smith HS, Hao J, Hassen D, Snyder SR, Graves JA, Peterson JF, Williams MS, Veenstra DL.
- JAMA Netw Open. 2020 Oct 1;3(10):e2022874. doi: 10.1001/jamanetworkopen.2020.22874.
- PMID: 33119106
- PubMed abstract
Press: Population-Wide Hereditary Breast, Ovarian Cancer Screening in Younger Women is Cost-Effective. (Clinical OMICs)
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- Was ist neu bei der Diagnostik und Therapie des Mammakarzinoms? – Aktuelle Standards in der Behandlung von Brustkrebs [Breast cancer - state of the art - Short overview of the current standard of treatment].
- Albert A, Stüber T, Bauer J, Wöckel A.
- Dtsch Med Wochenschr. 2020 Oct;145(20):1460-1463. German. doi: 10.1055/a-1026-3620. Epub 2020 Oct 6.
- PMID: 33022726
- PubMed abstract
- Source abstract
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- Genetic testing approaches for hereditary breast cancer: Perspectives from a private diagnostic laboratory.
- Smith DC, Gardiner SA, Conradie M, Gerber J, Loubser F.
- S Afr Med J. 2020 Sep 30;110(10):988-992. doi: 10.7196/SAMJ.2020.v110i10.14709.
- PMID: 33205725
- PubMed abstract
- Source abstract
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- Knowledge and practice regarding prostate cancer germline testing among urologists: Gaps to address for optimal implementation.
- Loeb S, Byrne N, Walter D, Makarov DV, Wise DR, Becker D, Giri VN.
- Cancer Treat Res Commun. 2020 Sep 28;25:100212. doi: 10.1016/j.ctarc.2020.100212. Epub ahead of print.
- PMID: 33091732
- PubMed abstract
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- Cancer Predisposition Genes in Cancer-Free Families.
- Zheng G, Catalano C, Bandapalli OR, Paramasivam N, Chattopadhyay S, Schlesner M, Sijmons R, Hemminki A, Dymerska D, Lubinski J, Hemminki K, Försti A.
- Cancers (Basel). 2020 Sep 27;12(10):E2770. doi: 10.3390/cancers12102770.
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- Bioethics and healthcare policies. The benefit of using genetic tests of BRCA 1 and BRCA 2 in elderly patients.
- Fonseca V, Caeiro J.
- Int J Health Plann Manage. 2020 Sep 25. doi: 10.1002/hpm.3072. Epub ahead of print.
- PMID: 32978840
- PubMed abstract
- Source abstract
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- Impact of Numeracy Preferences on Information Needs for Genome Sequencing Results.
- Albrechtsen RD, Goodman MS, Bathar J, Kaphingst KA.
- Patient Educ Couns. 2020 Sep 25:S0738-3991(20)305309. doi: 10.1016/j.pec.2020.09.032. Epub ahead of print.
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- "I think that a brief conversation from their provider can go a very long way": Patient and provider perspectives on barriers and facilitators of genetic testing after ovarian cancer.
- Mallen AR, Conley CC, Fuzzell L, Ketcher D, Augusto BM, McIntyre M, Barton LV, Townsend MK, Fridley BL, Tworoger SS, Wenham RM, Vadaparampil ST.
- Support Care Cancer. 2020 Sep 25. doi: 10.1007/s00520-020-05779-1. Epub ahead of print.
- PMID: 32975643
- PubMed abstract
- Source abstract
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- Discrepancies in Genetic Testing Procedures of BRCA1/2 Mutations: A National Survey Across China.
- Wu H, Xu B, Gao Q, Zhou X, Shao J, Liang Z, Ma D.
- Mol Diagn Ther. 2020 Sep 24. doi: 10.1007/s40291-020-00489-0. Epub ahead of print.
- PMID: 32970304
- PubMed abstract
- Source abstract
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- Screening of germline mutations in young Rwandan patients with breast cancers.
- Uyisenga JP, Segers K, Lumaka AZ, Mugenzi P, Fasquelle C, Boujemila B, Josse C, Mutesa L, Bours V.
- Mol Genet Genomic Med. 2020 Sep 22:e1500. doi: 10.1002/mgg3.1500. Epub ahead of print.
- PMID: 32959997
- PubMed abstract
- Source abstract
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- The Impact of the Number of Tests Presented and a Provider Recommendation on Decisions about Genetic Testing for Cancer Risk.
- Schwartz MLB, Klein WMP, Erby LAH, Smith CH, Roter DL.
- Patient Educ Couns. 2020 Sep 18:S0738-3991(20)305188. doi: 10.1016/j.pec.2020.09.020. Epub ahead of print.
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- Implementing Cancer Genomics in State Health Agencies: Mapping Activities to an Implementation Science Outcome Framework.
- Green RF, Kumerow MT, Rodriguez JL, Addie S, Beachy SH, Senier L.
- Public Health Genomics. 2020 Sep 17:1-12. doi: 10.1159/000510336. Epub ahead of print.
- PMID: 32942283
- PubMed abstract
- Source abstract
Original research:
Proposed outcomes measures for state public health genomic programs.
- PMID: 29300382
- PubMed abstract
- Free Full Text
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- Adherence to NCCN Guidelines for Genetic Testing in Breast Cancer Patients: Who Are We Missing?
- Alberty-Oller JJ, Weltz S, Santos A, Pisapati K, Ru M, Weltz C, Schmidt H, Port E.
- Ann Surg Oncol. 2020 Sep 11. doi: 10.1245/s10434-020-09123-z. Epub ahead of print.
- PMID: 32918176
- PubMed abstract
- Source abstract
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- NCCN Updates Guidelines Advising Against Using Polygenic Risk Scores Outside of Clinical Trials.
- [No author given]
- GenomeWeb. Diagnostics. 2020 Sep 10.
- News
- Free Full Text
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- BRCA1/2 Testing in Massachusetts Among Women With Private Insurance or Medicaid, 2011-2015.
- Pace LE, Baum CF, Horvath K, Raja SC, Cohen J, Hawkins SS.
- Med Care. 2020 Sep 10. doi: 10.1097/MLR.0000000000001405. Epub ahead of print.
- PMID: 32925457
- PubMed abstract
- Source abstract
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- Relaunched Canadian BRCA1/2 Screening Project Aims to ID High-Risk Carriers, Intervene Early.
- Anderson A.
- Precision Oncology News. 2020 Sep 8.
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- Ovarian cancer predisposition beyond BRCA1 and BRCA2 genes.
- Pietragalla A, Arcieri M, Marchetti C, Scambia G, Fagotti A.
- Int J Gynecol Cancer. 2020 Sep 6:ijgc-2020-001556. doi: 10.1136/ijgc-2020-001556. Epub ahead of print.
- PMID: 32895312
- PubMed abstract
- Source abstract
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- Genetic Testing and Surveillance of Young Breast Cancer Survivors and Blood Relatives: A Cluster Randomized Trial.
- Katapodi MC, Ming C, Northouse LL, Duffy SA, Duquette D, Mendelsohn-Victor KE, Milliron KJ, Merajver SD, Dinov ID, Janz NK.
- Cancers (Basel). 2020 Sep 5;12(9):E2526. doi: 10.3390/cancers12092526.
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- Invitae Launches Study to Explore Impact of Testing Guidelines on Prostate Cancer Patients' Outcomes.
- [No author given]
- Precision Oncology News. 2020 Sep 3.
- News
- Free Full Text
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- Prevalence of BRCA1 and BRCA2 Mutations in Patients with Primary Ovarian Cancer - Does the German Checklist for Detecting the Risk of Hereditary Breast and Ovarian Cancer Adequately Depict the Need for Consultation?
- Ataseven B, Tripon D, Rhiem K, Harter P, Schneider S, Heitz F, Baert T, Traut A, Pauly N, Ehmann S, Plett H, Schmutzler RK, du Bois A.
- Geburtshilfe Frauenheilkd. 2020 Sep;80(9):932-940. doi: 10.1055/a-1222-0042. Epub 2020 Sep 2.
- PMID: 32905297
- PubMed abstract
- Source abstract
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- Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis.
- Yoshida R.
- Breast Cancer. 2020 Aug 29. doi: 10.1007/s12282-020-01148-2. Epub ahead of print.
- PMID: 32862296
- PubMed abstract
- Review
- Free Full Text
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- Strategies to enhance identification of hereditary breast cancer gene carriers.
- Reid S, Spalluto LB, Pal T.
- Expert Rev Mol Diagn. 2020 Aug 28. doi: 10.1080/14737159.2020.1816829. Epub ahead of print.
- PMID: 32856489
- PubMed abstract
- Editorial
- Free Full Text
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- Germline mutations and prostate cancer: is it time to change treatment algorithms?
- Telvizian T, Mukherji D.
- Chin Clin Oncol. 2020 Aug 27:cco-19-207. doi: 10.21037/cco-19-207. Epub ahead of print.
- PMID: 32921062
- PubMed abstract
- Source abstract
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- Study: Among women with breast cancer, who should have genetic testing for an inherited mutation?
- [No author given]
- FORCE. XRAYS. 2020 Aug 27.
- Research news
- Free Full Text
Original research:
Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.
- PMID: 32125938
- PubMed abstract
- Free Full Text
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- Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case report.
- Deuitch N, Li ST, Courtney E, Shaw T, Dent R, Tan V, Yackowski L, Torene R, Berkofsky-Fessler W, Ngeow J.
- Hum Genome Var. 2020 Aug 25;7:24. doi: 10.1038/s41439-020-00111-z.
- PMID: 32884827
- PubMed abstract
- Case report
- Free PMC article
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- The management of BRCA1 and BRCA2 carriers in Singapore.
- Chiang J, Ngeow J.
- Chin Clin Oncol. 2020 Aug 17:cco-20-104. doi: 10.21037/cco-20-104. Epub ahead of print.
- PMID: 32819113
- PubMed abstract
- Source abstract
- Review
- Free Full Text (PDF)
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- Optimizing the management of HER2-negative metastatic breast cancer in the era of PARP inhibitors-proceedings from breast cancer expert group meeting.
- Dawood S, Konstantinova M, Perazzo F, Kim SB, Villarreal-Garza C, Franco SX, Simon SD, El-Nahas T.
- Chin Clin Oncol. 2020 Aug 17:cco-20-138. doi: 10.21037/cco-20-138. Epub ahead of print.
- PMID: 32819114
- PubMed abstract
- Source abstract
- Review
- Free Full Text (PDF)
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- Can population BRCA screening be applied in non-Ashkenazi Jewish populations? Experience in Macau population.
- Qin Z, Kuok CN, Dong H, Jiang L, Zhang L, Guo M, Leong HK, Wang L, Meng G, Wang SM.
- J Med Genet. 2020 Aug 17:jmedgenet-2020-107181. doi: 10.1136/jmedgenet-2020-107181. Epub ahead of print.
- PMID: 32817299
- PubMed abstract
- Source abstract
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- Identification of Recurrent Variants in BRCA1 and BRCA2 across Multiple Cancers in the Chinese Population.
- Jiang Y, Tian T, Yu C, Zhou W, Yang J, Wang Y, Wen Y, Chen J, Dai J, Jin G, Ma H, Shen H, Hu Z.
- Biomed Res Int. 2020 Aug 15;2020:6739823. doi: 10.1155/2020/6739823.
- PMID: 32879886
- PubMed abstract
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- 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.
- PMID: 32903564
- PubMed abstract
- Case report
- Free Full Text
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- Uptake of Family-Specific Mutation Genetic Testing Among Relatives of Patients with Ovarian Cancer with BRCA1 or BRCA2 Mutation.
- Jeong GW, Shin W, Lee DO, Seo SS, Kang S, Park SY, Lim MC.
- Cancer Res Treat. 2020 Aug 11. doi: 10.4143/crt.2020.364. Epub ahead of print.
- PMID: 32777875
- PubMed abstract
- Source abstract
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- Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer.
- Hartman TR, Demidova EV, Lesh RW, Hoang L, Richardson M, Forman A, Kessler L, Speare V, Golemis EA, Hall MJ, Daly MB, Arora S.
- Sci Rep. 2020 Aug 11;10(1):13518. doi: 10.1038/s41598-020-70449-5.
- PMID: 32782288
- PubMed abstract
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- Screening of BRCA1/2 genes mutations and copy number variations in patients with high risk for hereditary breast and ovarian cancer syndrome (HBOC).
- El Ansari FZ, Jouali F, Marchoudi N, Bennani MM, Ghailani NN, Barakat A, Fekkak J.
- BMC Cancer. 2020 Aug 10;20(1):747. doi: 10.1186/s12885-020-07250-0.
- PMID: 32778078
- PubMed abstract
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- Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?
- Nguyen-Dumont T, Karpinski P, Sasiadek MM, Akopyan H, Steen JA, Theys D, Hammet F, Tsimiklis H, Park DJ, Pope BJ, Slezak R, Stembalska A, Pesz K, Kitsera N, Siekierzynska A, Southey MC, Myszka A.
- Genet Res (Camb). 2020 Aug 10;102:e6. doi: 10.1017/S0016672320000075.
- PMID: 32772980
- PubMed abstract
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- Pinning Pink: Messages About Hereditary Breast Cancer Risk on Pinterest.
- Miller CA, Henderson AN, Guidry JPD, McGuire KP, Fuemmeler BF.
- J Cancer Educ. 2020 Aug 8. doi: 10.1007/s13187-020-01842-x. Epub ahead of print.
- PMID:32770532
- PubMed abstract
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- Genetic Testing Challenges in Oncology: Assuming All Labs Are Equal Gives False Reassurance of Risk.
- Ray T.
- Precision Oncology News. 2020 Aug 6.
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- Clinicopathological characteristics of gene-positive breast cancer in the United Arab Emirates.
- Altinoz A, Al Ameri M, Qureshi W, Boush N, Nair SC, Abdel-Aziz A.
- Breast. 2020 Jul 27;53:119-124. doi: 10.1016/j.breast.2020.07.005. Epub ahead of print.
- PMID: 32745951
- PubMed abstract
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- The contemporary landscape of genetic testing and breast cancer: Emerging issues.
- Shah PD, Domchek SM.
- Breast J. 2020 Jul 20. doi: 10.1111/tbj.13968. Epub ahead of print.
- PMID: 32691458
- PubMed abstract
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- Economic Evaluation of Population-Based BRCA1/BRCA2 Mutation Testing across Multiple Countries and Health Systems.
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- Genetic Counseling, Testing, and Management of HBOC in India: An Expert Consensus Document from Indian Society of Medical and Pediatric Oncology.
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- Economic Modelling of Screen-and-Treat Strategies for Brazilian Women at Risk of Hereditary Breast and Ovarian Cancer.
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- Web-based return of BRCA2 research results: one-year genetic counselling experience in Iceland.
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- Executive Summary of the Early-Onset Breast Cancer Evidence Review Conference.
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- Lynch Syndrome Germline Mutations in Breast Cancer: Next Generation Sequencing Case-Control Study of 1,263 Participants.
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- Genetic Testing and Screening Recommendations for Patients with Hereditary Breast Cancer.
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- Changing practice: moving to a specialist nurse-led service for BRCA gene testing.
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- BRCA immunohistochemistry for screening of BRCA mutation in epithelial ovarian cancer patients.
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- Updates in hereditary breast cancer genetic testing and practical high risk breast management in gene carriers.
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- The development and evaluation of a nationwide training program for oncology health professionals in the provision of genetic testing for ovarian cancer patients.
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- Gynecol Oncol. 2020 May 22:S0090-8258(20)31028-3. doi: 10.1016/j.ygyno.2020.05.001. Epub ahead of print.
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- Identifying Ashkenazi Jewish BRCA1/2 founder variants in individuals who do not self-report Jewish ancestry.
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- Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.
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- Genetic screening results of individuals with high risk BRCA-related breast/ovarian cancer in Trakya region of Turkey.
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- A road map for the future: An exploration of attitudes, perceptions, and beliefs among African Americans to tailor health promotion of cancer-related genetic counseling and testing.
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- Canadian cost-effectiveness model of BRCA-driven surgical prevention of breast/ovarian cancers compared to treatment if cancer develops.
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- NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020.
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- J Natl Compr Canc Netw. 2020 Apr;18(4):380-391. doi: 10.6004/jnccn.2020.0017.
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- Public perception of predictive cancer genetic testing and research in Oregon.
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- Updated Guideline Moves Genetic Testing Beyond BRCA.
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- Prevalence of Pathogenic Variants in Cancer Susceptibility Genes Among Women With Postmenopausal Breast Cancer.
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- Pioneering Informed Consent for Return of Research Results to Breast Cancer Patients Facing Barriers to Implementation of Genomic Medicine: The Kenyan BRCA1/2 Testing Experience Using Whole Exome Sequencing.
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- Should all breast cancer patients get germline genetic testing?
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Guidelines:
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Commentary:
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- Recommendations for Advancing the Diagnosis and Management of Hereditary Breast and Ovarian Cancer in Brazil.
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- Exceptional Response to Olaparib in a Patient With Recurrent Ovarian Cancer and an Entire BRCA1 Germline Gene Deletion.
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- Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.
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- Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes.
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- The Need to Improve the Clinical Utility of Direct-to-Consumer Genetic Tests: Either Too Narrow or Too Broad.
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CME Audio, Interview: The Need to Improve the Clinical Utility of Direct-to-Consumer Genetic Tests: Either Too Narrow or Too Broad. (JAMA Network: JN Learning)
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- Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field.
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- Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: Recommendation Statement.
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- Am Fam Physician. 2020 Feb 15;101(4):233-238.
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CME Activity:
Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer.
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- Experts say more women should be tested for BRCA1 and BRCA2 genetic mutations.
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Guidelines:
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- Testing for Breast Cancer Susceptibility Genes.
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- Genetic Predisposition to Breast and Ovarian Cancers: How Many and Which Genes to Test?
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- Transmission of X-linked Ovarian Cancer: Characterization and Implications.
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- Diagnostics (Basel). 2020 Feb 7;10(2). pii: E90. doi: 10.3390/diagnostics10020090.
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- Despite Barriers, Labs Starting to Report Suspected Cancer Risk Mutations Seen in Tumor Testing.
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- GenomeWeb. 2020 Feb 6.
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- BRCA1 & BRCA2 germline testing in Cretan isolates reveals novel and strong founder effects.
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- The narrative paradox of the BRCA gene: an ethnographic study in the clinical encounters of ovarian cancer patients.
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- Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population.
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- Health Care Provider Perceptions of Caring for Individuals with Inherited Pancreatic Cancer Risk.
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- J Cancer Educ. 2020 Feb;35(1):194-203. doi: 10.1007/s13187-019-01623-1.
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- Italian Men Tested for BRCA1/2 Mutation: Psychological Distress during 6-Month Follow-Up.
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- J Oncol. 2020 Jan 31;2020:3987935. doi: 10.1155/2020/3987935. eCollection 2020.
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- Mainstreamed genetic testing of breast cancer patients in two hospitals in South Eastern Norway.
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- Medicare to Cover Gene Tests in Inherited Breast and Ovarian Cancer.
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Decision Memo: Decision Memo for Next Generation Sequencing (NGS) for Medicare Beneficiaries with Advanced Cancer (CAG-00450R) (Centers for Medicare & Medicaid Services)
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- Decision Memo for Next Generation Sequencing (NGS) for Medicare Beneficiaries with Advanced Cancer (CAG-00450R)
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- Decision Memo
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- CMS to Cover FDA-Approved, -Cleared NGS Germline Tests for Breast, Ovarian Cancer Patients.
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Decision Memo: Decision Memo for Next Generation Sequencing (NGS) for Medicare Beneficiaries with Advanced Cancer (CAG-00450R) (Centers for Medicare & Medicaid Services)
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- Genetic Testing in Prostate Cancer.
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- Characteristics predicting recommendation for familial breast cancer referral in a cohort of women from primary care.
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- Organizational readiness to implement population-based screening and genetic service delivery for hereditary cancer prevention and control.
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- Referencing BRCA in hereditary cancer risk discussions: In search of an anchor in a sea of uncertainty.
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- Prospective Evaluation of Universal BRCA Testing for Women With Triple-Negative Breast Cancer.
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- Should Genetic Testing for Cancer Predisposition Be Standard-of-Care for Women with Invasive Breast Cancer? The Murtha Cancer Center Experience.
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- Cancers (Basel). 2020 Jan 17;12(1). pii: E234. doi: 10.3390/cancers12010234.
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- Genetic testing for epithelial ovarian cancer.
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- Best Pract Res Clin Obstet Gynaecol. 2020 Jan 16. pii: S1521-6934(20)30017-1. doi: 10.1016/j.bpobgyn.2020.01.005. [Epub ahead of print]
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- Applications of Next Generation Sequencing to the Analysis of Familial Breast/Ovarian Cancer.
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- High Throughput. 2020 Jan 10;9(1). pii: E1. doi: 10.3390/ht9010001.
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- Cascading After Peridiagnostic Cancer Genetic Testing: An Alternative to Population-Based Screening.
- Offit K, Tkachuk KA, Stadler ZK, Walsh MF, Diaz-Zabala H, Levin JD, Steinsnyder Z, Ravichandran V, Sharaf RN, Frey MK, Lipkin SM, Robson ME, Hamilton JG, Vijai J, Mukherjee S.
- J Clin Oncol. 2020 Jan 10:JCO1902010. doi: 10.1200/JCO.19.02010. [Epub ahead of print]
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- Mental Illness and BRCA1/2 Genetic Testing Intention Among Multiethnic Women Undergoing Screening Mammography.
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- Oncol Nurs Forum. 2020 Jan 1;47(1):E13-E24. doi: 10.1188/20.ONF.E13-E24.
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- BRCA2 gene mutation and prostate cancer risk. Comprehensive review and update.
- Saudi Med J. 2020 Jan;41(1):9-17. doi: 10.15537/smj.2020.1.24759.
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- [Learning from My Experience: Outpatient Care for Cancer Multigene Genomic Testing].
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- Yakugaku Zasshi. 2020;140(5):667-668. doi: 10.1248/yakushi.19-00217-4.
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- [Our Treatment Strategy for Patients with Hereditary Breast Cancer Syndrome in Hamamatsu Medical Center].
- Miyamoto Y, Tochikubo J, Hosokawa Y, Amano K.
- Yakugaku Zasshi. 2020;140(5):669-671. doi: 10.1248/yakushi.19-00217-5.
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- SEOM clinical guidelines in hereditary breast and ovarian cancer (2019).
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- Clin Transl Oncol. 2019 Dec 30. doi: 10.1007/s12094-019-02262-0. [Epub ahead of print]
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- Myriad Data Supports Polygenic Score Value Even in Canonical Mutation Carriers.
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- Simultaneous germline and somatic sequencing in ovarian carcinoma: mutation rate and impact on clinical decision-making.
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- Online BRCA1/2 screening in the Australian Jewish community: a qualitative study.
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- J Community Genet. 2019 Dec 26. doi: 10.1007/s12687-019-00450-7. [Epub ahead of print]
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- Ambry Genetics Gains NYS Approval for Paired RNA, DNA Genetic Test.
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- GenomeWeb. 2019 Dec 16.
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Press: Ambry Genetics Study Finds RNA Testing Can Clarify Role of Variants in Hereditary Cancer Genes. (GenomeWeb)
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- Black Women's Confidence in the Genetic Information Nondiscrimination Act.
- Sutton AL, Henderson A, Hurtado-de-Mendoza A, Tanner E, Khan M, Quillin J, Sheppard VB.
- Int J Environ Res Public Health. 2019 Dec 14;16(24). pii: E5112. doi: 10.3390/ijerph16245112.
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- Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? A statement of the American College of Medical Genetics and Genomics (ACMG).
- Pal T, Agnese D, Daly M, La Spada A, Litton J, Wick M, Klugman S, Esplin ED, Jarvik GP; Professional Practice and Guidelines Committee.
- Genet Med. 2019 Dec 13. doi: 10.1038/s41436-019-0712-x. [Epub ahead of print]
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Press: Universal Genetic Testing in Breast Cancer May Result in More Harm Than Good, Experts Worry. (GenomeWeb)
Press: ACMG Suggests Docs Evaluate All Breast Cancer Patients for Genetic Risk Test Suitability. (GenomeWeb)
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- How to facilitate psychosocial adjustment in women tested for hereditary breast or ovarian cancer susceptibility? Insights from network analysis.
- Brédart A, Dick J, Cano A, Robieux L, De Pauw A, Schmutzler R, Stoppa-Lyonnet D, Dolbeault S, Kop JL.
- Psychooncology. 2019 Dec 11. doi: 10.1002/pon.5302. [Epub ahead of print]
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- Genetic Testing Challenges in Oncology: False Positive After Testing at Pop-Up Booth.
- Ray T.
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- Hereditary Cancer Syndromes and Risk Assessment: ACOG COMMITTEE OPINION, Number 793.
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- Obstet Gynecol. 2019 Dec;134(6):e143-e149. doi: 10.1097/AOG.0000000000003562.
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Summary:
Hereditary Cancer Syndromes and Risk Assessment: ACOG COMMITTEE OPINION SUMMARY, Number 793.
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- Retesting of women who are negative for a BRCA1 and BRCA2 mutation using a 20-gene panel.
- Lerner-Ellis J, Sopik V, Wong A, Lázaro C, Narod SA, Charames GS.
- J Med Genet. 2019 Nov 29. pii: jmedgenet-2019-106403. doi: 10.1136/jmedgenet-2019-106403. [Epub ahead of print]
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- Update: Genetic causes of hereditary pancreatic cancer: BRCA and beyond
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- FORCE. XRAYS. 2019 Nov 26.
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- Myriad Genetics Myriad Wins Japanese Approval for BRACAnalysis to Assess Breast, Ovarian Cancer Risk.
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- Clinical Omics. 2019 Nov 21.
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- Myriad Genetics BRACAnalysis Approved by Japanese Regulators.
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- GenomeWeb. 2019 Nov 21.
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- As Genetic Testing Access Grows, Travel Time Remains Barrier to In-Person Counseling.
- Ray T.
- GenomeWeb. 2019 Nov 20.
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- 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]
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- Employee Benefits Programs Share Early Experiences Implementing Genetic Testing.
- Ray T.
- GenomeWeb. 2019 Nov 15.
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- Identification of novel BRCA1 large genomic rearrangements by a computational algorithm of amplicon-based Next-Generation Sequencing data.
- Nicolussi A, Belardinilli F, Silvestri V, Mahdavian Y, Valentini V, D'Inzeo S, Petroni M, Zani M, Ferraro S, Di Giulio S, Fabretti F, Fratini B, Gradilone A, Ottini L, Giannini G, Coppa A, Capalbo C.
- PeerJ. 2019 Nov 15;7:e7972. doi: 10.7717/peerj.7972. eCollection 2019.
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- Ethical Issues in Newborn Sequencing Research: The Case Study of BabySeq.
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- Pediatrics. 2019 Nov 12. pii: e20191031. doi: 10.1542/peds.2019-1031. [Epub ahead of print]
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Press: Genome Sequencing in Newborns Raises Ethical Issues (NY Times/Reuters)
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- 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]
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- NSGC Panel Divided on Whether Newly Diagnosed Breast Cancer Patients Should Undergo Panel Testing.
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- GenomeWeb. 2019 Nov 7.
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- Geisinger MyCode® detects BRCA2 mutation prior to abdominal panniculectomy allowing for DIEP flap breast reconstruction.
- Kauffman CA.
- Case Reports Plast Surg Hand Surg. 2019 Nov 6;6(1):145-147. doi: 10.1080/23320885.2019.1684824. eCollection 2019.
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- [What attitude to women at high risk of breast cancer?]
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- Presse Med. 2019 Nov 6. pii: S0755-4982(19)30302-1. doi: 10.1016/j.lpm.2019.07.014. [Epub ahead of print]
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- Clinical utility of hereditary cancer panel testing: Impact of PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D results on patient management and adherence to provider recommendations.
- Vysotskaia V, Kaseniit KE, Bucheit L, Ready K, Price K, Johansen Taber K.
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- Multigene Cancer Panels: Implications for Pre- and Post-test Genetic Counseling.
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- Impact of Genetic Testing on Risk-Management Behavior of Black Breast Cancer Survivors: A Longitudinal, Observational Study.
- Conley CC, Kasting ML, Augusto BM, Garcia JD, Cragun D, Gonzalez BD, Kim J, Ashing KT, Knott CL, Hughes-Halbert C, Pal T, Vadaparampil ST.
- Ann Surg Oncol. 2019 Nov 1. doi: 10.1245/s10434-019-07982-9. [Epub ahead of print]
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- Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer.
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- Determination of Pathogenicity of Breast Cancer 1 Gene Variants using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines.
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- FDA Approval of Myriad Genetics CDx Adds HRD to Growing List of Ovarian Cancer Predictive Markers.
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- NSGC blog, 2019 Oct 29.
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- Genetic and Genomic Advances in Breast Cancer Diagnosis and Treatment.
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- Genetic counselling and personalised risk assessment in the Australian pancreatic cancer screening program.
- Dwarte T, McKay S, Johns A, Tucker K, Spigelman AD, Williams D, Stoita A.
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- Impact of Implementing B-RSTTM to Screen for Hereditary Breast and Ovarian Cancer on Risk Perception and Genetic Counseling Uptake Among Women in an Academic Safety Net Hospital.
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- Genetic Service Delivery Models: Exploring Approaches to Care for Families With Hereditary Cancer Risk.
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- Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS).
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- Overestimation of the Benefit-to-Harm Ratio of Risk-Based Mammography Screening in the United Kingdom.
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- Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.
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- European Breast Cancer Council manifesto 2018: Genetic risk prediction testing in breast cancer.
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- World J Surg. 2018 May;42(5):1384-1390. doi: 10.1007/s00268-017-4342-7.
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- Trends in utilization and costs of BRCA testing among women aged 18-64 years in the United States, 2003-2014.
- Chen Z, Kolor K, Grosse SD, Rodriguez JL, Lynch JA, Green RF, Dotson WD, Bowen MS, Khoury MJ.
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- Disparities in genetics assessment for women with ovarian cancer: Can we do better?
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- Gynecol Oncol. 2018 Apr;149(1):84-88. doi: 10.1016/j.ygyno.2017.10.034.
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- False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.
- Tandy-Connor S, Guiltinan J, Krempely K, LaDuca H, Reineke P, Gutierrez S, Gray P, Tippin Davis B.
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Attention: Direct-To-Consumer patrons: Proceed with caution.
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Research news: Evaluation of some direct-to-consumer genetic testing reveals inaccuracies and misinterpretations (FORCE. XRAYS.)
Press: Wrangle Over DTC Results—Ambry Study Highlights 40% False Positives, 23andMe Defends Tests, and Experts Weigh In. (Clinical OMICs)
Press: Ambry and My Gene Counsel Team Up on Tests to Confirm DTC Results, Counseling. (Clinical OMICs)
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- The Right Not to Know: When Ignorance Is Bliss but Deadly.
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Commentary: The right not to know when not knowing is dangerous. (FORCE. XRAYS.)
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- FDA approves breast cancer test kits: how useful are they?
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FDA News Release: FDA authorizes, with special controls, direct-to-consumer test that reports three mutations in the BRCA breast cancer genes (U.S. Food & Drug Administration)
Press: Oncology Community Sees Potential for Patient Harm in FDA OK of 23andMe BRCA Test (GenomeWeb)
Press: FDA Authorizes 23andMe DTC Test Report for Three BRCA Mutations (GenomeWeb)
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- Medical Strategy or Marketing Strategy?
- Resta R.
- The DNA Exchange. 2018 Mar 18.
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- Factors Influencing Clinical Follow-Up for Individuals with a Personal History of Breast and/or Ovarian Cancer and Previous Uninformative BRCA1 and BRCA2 Testing.
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- First DTC Test for Some BRCA Mutations Authorized by FDA.
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- NSGC Responds to U.S. Food and Drug Administration Approval of Direct-to-Consumer Cancer Test that Reports Three BRCA Mutations.
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FDA News Release: FDA authorizes, with special controls, direct-to-consumer test that reports three mutations in the BRCA breast cancer genes (U.S. Food & Drug Administration)
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- FDA authorizes, with special controls, direct-to-consumer test that reports three mutations in the BRCA breast cancer genes.
- [No author given]
- U.S. Food & Drug Administration. FDA News Release. 2018 Mar 6.
Blog post, News: NSGC Responds to U.S. Food and Drug Administration Approval of Direct-to-Consumer Cancer Test that Reports Three BRCA Mutations (NSGC Blog)
News: FDA approves breast cancer test kits: how useful are they? (FORCE. XRAYS)
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- Genetic assessment wait time indicators in the High Risk Ontario Breast Screening Program.
- Eisen A, Blackmore KM, Meschino WS, Muradali D, Carroll JC, Majpruz V, Warner E, Rabeneck L, Chiarelli AM.
- Mol Genet Genomic Med. 2018 Mar;6(2):213-223. doi: 10.1002/mgg3.359. Epub 2018 Jan 25.
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- The changing landscape of hereditary cancer genetic testing.
- Webster RD, Ross JL, Arun BK
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- Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices.
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- Genetic Testing: Multiple Problems to Solve.
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- Letter, Comment
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Editorial:
Genetic Testing: What Problem Are We Trying to Solve?
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Letter, Reply:
Reply to E. Ramos et al.
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- BRCAsearch: written pre-test information and BRCA1/2 germline mutation testing in unselected patients with newly diagnosed breast cancer.
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- Examination of the Patient-Focused Impact of Cancer Telegenetics Among a Rural Population: Comparison with Traditional In-Person Services.
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- The risk of unjustified BRCA testing after the "Angelina Jolie effect": how can we save (laboratory) medicine from the Internet?
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- Clin Chem Lab Med. 2018 Jan 26;56(2):e33-e35. doi: 10.1515/cclm-2017-0551.
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- Genetic Testing for Hereditary Breast Cancer: The Decision to Decline.
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- Surveillance report 2018 – Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer (2013) NICE guideline CG164 [Internet].
- NICE Surveillance programme project team: Nolan K, Allaby M, McFarlane E, Murray A.
- London: National Institute for Health and Care Excellence (UK); 2018 Jan.
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- Guidelines, Book
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- Considerations in Testing for Inherited Breast Cancer Predisposition in the Era of Personalized Medicine.
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- Rapid screening test of most frequent BRCA1/BRCA2 pathogenic variants in the NGS era.
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- Neoplasma. 2018;65(2):309-315. doi: 10.4149/neo_2018_170507N328.
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- National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer.
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- J Clin Oncol. 2017 Dec 1;35(34):3800-3806. doi: 10.1200/JCO.2017.73.6314. Epub 2017 Aug 18.
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Editorial:
Genetic Testing: What Problem Are We Trying to Solve?
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Letter:
Population-Based Genetic Testing for BRCA1 and BRCA2.
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Press: Huge Underuse of Genetic Testing Among Cancer Survivors. (Medscape Oncology)
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- Cancer Genetic Counseling and Testing in an Era of Rapid Change.
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- Identification and management of familial breast cancer in Austria.
- Singer CF, Tan YY, Rappaport C.
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- Testing for BRCA1/2 Mutations.
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- Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report.
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- Germline BRCA2 mutations detected in pediatric sequencing studies impact parents' evaluation and care.
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- Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). pii: a001925. doi: 10.1101/mcs.a001925. Print 2017 Nov.
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- What?s Happening to Your DNA Data?: Genetic Testing Services Abound, but Consumers Opting to Use Them Should Be Aware of the Pitfalls.
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- IEEE Pulse. 2017 Nov-Dec;8(6):10-14. doi: 10.1109/MPUL.2017.2751121.
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- Screening for familial cancer risk: Focus on breast cancer.
- Rousset-Jablonski C, Gompel A.
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- Key messages for communicating information about BRCA1 and BRCA2 to women with breast or ovarian cancer: consensus across health professionals and service users.
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- Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1).
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- To Have Or Not To Have Genetic Testing?
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- My Gene Counsel. 2017 Oct 17.
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- Recent Patterns in Genetic Testing for Breast and Ovarian Cancer Risk in the U.S.
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- Identification of pathogenic retrotransposon insertions in cancer predisposition genes.
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- Impact of germline and somatic BRCA1/2 mutations: Tumor spectrum and detection platforms.
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- Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome.
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- Referral to cancer genetic counseling: do migrant status and patients’ educational background matter?
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- Spectrum of BRCA1/2 variants in 940 patients from Argentina including novel, deleterious and recurrent germline mutations: impact on healthcare and clinical practice.
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- A comparative study of germline BRCA1 and BRCA2 mutation screening methods in use in 20 European clinical diagnostic laboratories.
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- [The progress and prospect of application of genetic testing technology-based gene detection technology in the diagnosis and treatment of hereditary cancer].
- He JX, Jiang YF.
- Zhonghua Yu Fang Yi Xue Za Zhi. 2017 Aug 6;51(8):772-776. doi: 10.3760/cma.j.issn.0253-9624.2017.08.022.
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- Breast Cancer Genetic Testing Among African Patients With Breast Cancer: Deoxyribonucleic Acid Extraction From Tumor Tissue and International Multidisciplinary Partnerships.
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- Recurrent large genomic rearrangements in BRCA1 and BRCA2 in an Irish case series.
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- Multi-disciplinary summit on genetics services for women with gynecologic cancers: A Society of Gynecologic Oncology White Paper.
- Randall LM, Pothuri B, Swisher EM, Diaz JP, Buchanan A, Witkop CT, Bethan Powell C, Smith EB, Robson ME, Boyd J, Coleman RL, Lu K.
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- Development of a Streamlined Work Flow for Handling Patients’ Genetic Testing Insurance Authorizations.
- Uhlmann WR, Schwalm K, Raymond VM
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- BRCA population screening for predicting breast cancer: for or against?
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- Ann Transl Med. 2017 Jul;5(13):275. doi: 10.21037/atm.2017.06.71.
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- Genetic testing and counseling of a recipient after bone marrow transplant from a sibling harboring a germline BRCA1 pathogenic mutation.
- Škerl P, Krajc M, Blatnik A, Novaković S.
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- 4 Years Post-Gene Patents: How Has Life Changed In The Genomics World?
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- My Gene Counsel. 2017 Jun 13.
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- The Role of Genetic Testing in Patients With Breast Cancer: A Review.
- Valencia OM, Samuel SE, Viscusi RK, Riall TS, Neumayer LA, Aziz H
- JAMA Surg. 2017 Jun 1;152(6):589-594. doi: 10.1001/jamasurg.2017.0552.
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- Validation of a scale for assessing attitudes towards outcomes of genetic cancer testing among primary care providers and breast specialists.
- Bouhnik AD, N'Diaye K, Evans DG, Harris H, Tibben A, van Asperen C, Schmidtke J, Nippert I, Mancini J, Julian-Reynier C.
- PLoS One. 2017 Jun 1;12(6):e0178447. doi: 10.1371/journal.pone.0178447. eCollection 2017.
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- Use of BRCA Mutation Test in the U.S., 2004-2014.
- Guo F, Hirth JM, Lin YL, Richardson G, Levine L, Berenson AB, Kuo YF.
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Press: BRCA Testing Has Skyrocketed, but Misses High-Risk Women. (Medscape)
Letter, Comment:
Increased Use of BRCA Mutation Test in Unaffected Women Over the Period 2004-2014 in the U.S.: Further Evidence of the "Angelina Jolie Effect"?
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Letter, Reply:
Authors' Response: "Angelina Jolie Effect" on the Shifting Role of BRCA Testing in the U.S.
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- Genomic Testing and Precision Medicine in Cancer Care.
- West HJ, Miller G.
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- Optimization of quality assurance to increase clinical utility and cost effectiveness of hereditary cancer testing.
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- Efficacy versus effectiveness of clinical genetic testing criteria for BRCA1 and BRCA2 hereditary mutations in incident breast cancer.
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- Orthodox Jewish Thought Leaders' Insights Regarding BRCA Mutations: A Descriptive Study.
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- Genetic Cancer Risk Assessment for Breast Cancer in Latin America.
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- Rev Invest Clin. 2017 Mar-Apr;69(2):94-102.
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- BRCA mutation genetic testing implications in the United States.
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- Breast. 2017 Feb;31:224-232. doi: 10.1016/j.breast.2016.11.021. Epub 2016 Dec 6.
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- Retesting BRCA1/BRCA2 mutation negative male breast cancer patients using next generation sequencing technologies.
- Rizzolo P, Silvestri V, Ottini L.
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- Breast cancer risk prediction using a polygenic risk score in the familial setting: a prospective study from the Breast Cancer Family Registry and kConFab.
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- Impact of Payer Constraints on Access to Genetic Testing.
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- [Making better use of the clinical geneticist's expertise; treating physician could request a DNA test for most cancer patients].
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- Breast Cancer Epidemiology, Prevention, and Screening.
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- Genetic Testing After Previous BRCA Testing: A Case Study.
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- The Impact of Angelina Jolie (AJ)'s Story on Genetic Referral and Testing at an Academic Cancer Centre in Canada.
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- The effect of referral for genetic counseling on genetic testing and surgical prevention in women at high risk for ovarian cancer: Results from a randomized controlled trial.
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- Utilizing fluorescent life time imaging microscopy technology for identify carriers of BRCA2 mutation.
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