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- Mainstream genetic testing for high-grade ovarian, tubal and peritoneal cancers: A tertiary referral centre experience.
- Srinivasa S, Bowman M, Titterton L, Harnett P, Brand A, Kirk J, Ragunathan A.
- Aust N Z J Obstet Gynaecol. 2023 Feb 13. doi: 10.1111/ajo.13650. Epub ahead of print.
- PMID: 36785489
- PubMed abstract
- Source abstract
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- Implementing digital systems to facilitate genetic testing for hereditary cancer syndromes: An observational study of four clinical workflows.
- Wang C, Lu H, Bowen DJ, Xuan Z.
- Genet Med. 2023 Feb 10:S1098-3600(23)00815-8. doi: 10.1016/j.gim.2023.100802. Epub ahead of print.
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- Testing for Inherited Susceptibility to Breast Cancer.
- Robson M.
- Hematol Oncol Clin North Am. 2023 Feb;37(1):17-31. doi: 10.1016/j.hoc.2022.08.003.
- PMID: 36435609
- PubMed abstract
- Source abstract
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- The economic value of knowing BRCA status: BRCA testing for optimizing treatment in recurrent epithelial ovarian cancer.
- Oh M, McBride A, Bhattacharjee S, Slack M, Jeter J, Abraham I.
- Expert Rev Pharmacoecon Outcomes Res. 2023 Jan 24. doi: 10.1080/14737167.2023.2169136. Epub ahead of print.
- PMID: 36691923
- PubMed abstract
- Source abstract
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- Genetic Testing for Cancer Risk and Perceived Importance of Genetic Information Among US Population by Race and Ethnicity: a Cross-sectional Study.
- Hong YR, Yadav S, Wang R, Vadaparampil S, Bian J, George TJ, Braithwaite D.
- J Racial Ethn Health Disparities. 2023 Jan 23. doi: 10.1007/s40615-023-01526-4. Epub ahead of print.
- PMID: 36689121
- PubMed abstract
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- Genetic Testing Challenges in Oncology: Patient With Pending Bill Has BRCA1 Result Withheld.
- Ray T.
- Precision Oncology News. 2023 Jan 23.
- Case report
- Free Full Text
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- The economic value of knowing BRCA status: universal BRCA testing for breast cancer prevention.
- Oh M, McBride A, Bhattacharjee S, Slack M, Jeter J, Abraham I.
- Expert Rev Pharmacoecon Outcomes Res. 2023 Jan 13. doi: 10.1080/14737167.2023.2169135. Epub ahead of print.
- PMID: 36637419
- PubMed abstract
- Source abstract
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- The expression and mutation of BRCA1/2 genes in ovarian cancer: a global systematic study.
- Chu DT, Vu Ngoc Suong M, Vu Thi H, Vu TD, Nguyen MH, Singh V.
- Expert Rev Mol Diagn. 2023 Jan 12. doi: 10.1080/14737159.2023.2168190. Epub ahead of print.
- PMID: 36634123
- PubMed abstract
- Source abstract
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- Implementation of a Telehealth Genetic Testing Station to Deliver Germline Testing for Men With Prostate Cancer.
- Kwon DH, Gordon KM, Tong B, Borno HT, Beigh M, Fattah D, Schleicher A, Aggarwal RR, Blanco AM, Small EJ, Dhawan M.
- JCO Oncol Pract. 2023 Jan 12:OP2200638. doi: 10.1200/OP.22.00638. Epub ahead of print.
- PMID: 36649492
- PubMed abstract
- Source abstract
•• Commentary:
Germline Testing in Prostate Cancer: Implementation and Disparities of Care.
- PMID: 36720077
- PubMed abstract
- Free Full Text
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- Assessing Breast and Ovarian Cancer Risk Prior to Gender-Affirming Surgery.
- Cortina CS.
- JAMA Surg. 2023 Jan 11. doi: 10.1001/jamasurg.2022.5447. Epub ahead of print.
- PMID: 36630117
- PubMed abstract
- Source abstract
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- January 2023: Awareness of genetic testing – results and analysis from the 2020 Health Information National Trends Survey.
- Mechanic L, Helzlsouer K.
- Genet Med. GenePOD. 2023 Jan 9.
- Podcast
- Free Audio
•• Original research:
Awareness and use of genetic testing: An analysis of the Health Information National Trends Survey 2020.
- PMID: 36136089
- PubMed abstract
- Free Full Texts
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- Clinical usefulness of NGS multi-gene panel testing in hereditary cancer analysis.
- Anaclerio F, PILENZI L, Dell'elice A, Ferrante R, Gildetti S, Ferlito LM, Marinelli C, Calabrese G, Stuppia L, Antonucci I.
- Front Genet. 2023 Jan 4;12:1060504. doi: 10.3389/fgene.2023.1060504.
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- Genetic, Surgical and Oncological Approach to Breast Cancer, with BRCA1, BRCA2, CDH1, PALB2, PTEN and TP53 Variants.
- Subaşıoğlu A, Güç ZG, Gür EÖ, Tekindal MA, Atahan MK.
- Eur J Breast Health. 2023 Jan 1;19(1):55-69. doi: 10.4274/ejbh.galenos.2022.2022-7-2.
- PMID: 36605468
- PubMed abstract
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- Development of a comprehensive approach to adult hereditary cancer testing in Ontario.
- Bell KA, Kim R, Aronson M, Gillies B, Ali Awan A, Chun K, Hart J, Healey R, Kim L, Klaric G, Panabaker K, Sabatini PJB, Sadikovic B, Selvarajah S, Smith AC, Stockley TL, Vaags AK, Eisen A, Pollett A, Feilotter H.
- J Med Genet. 2022 Dec 23:jmg-2022-108945. doi: 10.1136/jmg-2022-108945. Epub ahead of print.
- PMID: 36564171
- PubMed abstract
- Source abstract
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- Oncogenetica [Oncogenetics].
- Suerink M, Bleiker EMA, Nielsen M, Houwink EJF, Baas JM, Ausems MGEM.
- Ned Tijdschr Geneeskd. 2022 Dec 22;167:D6958. Dutch.
- PMID: 36633037
- PubMed abstract
- Source abstract
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- Parent-of-origin detection and chromosome-scale haplotyping using long-read DNA methylation sequencing and Strand-seq.
- Akbari V, Hanlon VCT, O’Neill K, Lefebvre L, Schrader KA, Lansdorp PM, Jones SJM.
- Cell Genom. 2022 Dec 21. doi: 10.1016/j.xgen.2022.100233. Epub ahead of print.
•• Research news: Genetic Test Identifies Parental Source of Cancer Variant. (Medscape Oncology)
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- Informational needs of individuals from BRCA-harboring families: a systematic review and content analysis.
- Park SY, Kim Y, Kim S, Katapodi MC.
- Genet Med. 2022 Dec 18:S1098-3600(22)01068-1. doi: 10.1016/j.gim.2022.100001. Epub ahead of print.
- Review
- Free Full Text
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- Real World Cost-Effectiveness Analysis of Population Screening for BRCA Variants among Ashkenazi Jews Compared with Family History-Based Strategies.
- Michaelson-Cohen R, Cohen MJ, Cohen C, Greenberg D, Shmueli A, Lieberman S, Tomer A, Levy-Lahad E, Lahad A.
- Cancers (Basel). 2022 Dec 12;14(24):6113. doi: 10.3390/cancers14246113.
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- Evaluation of out-of-pocket pay genetic testing in a publicly funded healthcare system.
- Grant P, Cook CB, Langlois S, Nuk J, Mung S, Zhang Q; GenCOUNSEL Study, Lynd LD, Austin J, Elliott AM.
- Clin Genet. 2022 Dec 11. doi: 10.1111/cge.14276. Epub ahead of print.
- PMID: 36504324
- PubMed abstract
- Source abstract
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- RE: Heterozygous BRCA1/BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.
- Evans DG, Woodward ER.
- J Natl Cancer Inst. 2022 Dec 10:djac223. doi: 10.1093/jnci/djac223. Epub ahead of print.
- PMID: 36495190
- PubMed abstract
- Source abstract
- Letter, Commentary
- Free Full Text (PDF)
•• Letter, Reply:
Reply to Evans and Woodward.
- PMID: 36495208
- PubMed abstract
- Source abstract
•• Original research:
Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.
- PMID: 35980168
- PubMed abstract
- Free Full Text
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- Patient uptake of updated genetic testing following uninformative BRCA1 and BRCA2 results.
- Macklin-Mantia SK, Clift KE, Maimone S, Hodge DO, Riegert-Johnson D, Hines SL.
- J Genet Couns. 2022 Dec 7. doi: 10.1002/jgc4.1665. Epub ahead of print.
- PMID: 36478495
- PubMed abstract
- Source abstract
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- Sociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Neiva, Huila, Colombia.
- Olaya J, Sanjuan J, Torres-Lopez D, Olaya L, Gutierrez-Vargas M, Olaya G, Olaya JD.
- Cureus. 2022 Dec 6;14(12):e32257. doi: 10.7759/cureus.32257.
- PMID: 36620844
- PubMed abstract
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- Hereditary breast cancer: syndromes, tumour pathology and molecular testing.
- Sokolova A, Johnstone KJ, McCart Reed AE, Simpson PT, Lakhani SR.
- Histopathology. 2022 Dec 5. doi: 10.1111/his.14808. Epub ahead of print.
- PMID: 36468211
- PubMed abstract
- Source abstract
- Review
- Free Full Text
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- Awareness and use of genetic testing: An analysis of the Health Information National Trends Survey 2020.
- Tiner JC, Mechanic LE, Gallicchio L, Gillanders EM, Helzlsouer KJ.
- Genet Med. 2022 Dec;24(12):2526-2534. doi: 10.1016/j.gim.2022.08.023. Epub 2022 Sep 22.
- PMID: 36136089
- PubMed abstract
•• Podcast: January 2023: Awareness of genetic testing – results and analysis from the 2020 Health Information National Trends Survey. (Genetics in Medicine GenePOD)
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- Referral, Genetic Counselling, and BRCA Testing in the Manitoba High-Grade Serous Ovarian Cancer Population, 2004–2019.
- Winchar K, Lambert P, McManus KJ, Chodirker B, Kean S, Serfas K, Decker K, Nachtigal MW, Altman AD.
- Curr Oncol. 2022 Nov 30;29(12):9365-9376. doi: 10.3390/curroncol29120735.
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- Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders.
- Carrasco E, López-Fernández A, Codina-Sola M, Valenzuela I, Cueto-González AM, Villacampa G, Navarro V, Torres-Esquius S, Palau D, Cruellas M, Torres M, Perez-Dueñas B, Abulí A, Diez O, Sábado-Álvarez C, García-Arumí E, Tizzano EF, Moreno L, Balmaña J.
- J Med Genet. 2022 Nov 29:jmg-2022-108929. doi: 10.1136/jmg-2022-108929. Epub ahead of print.
- PMID: 36446584
- PubMed abstract
- Source abstract
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- Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers.
- Evans DG, Sithambaram S, van Veen EM, Burghel GJ, Schlecht H, Harkness EF, Byers H, Ellingford JM, Gandhi A, Howell SJ, Howell A, Forde C, Lalloo F, Newman WG, Smith MJ, Woodward ER.
- J Med Genet. 2022 Nov 28:jmg-2022-108790. doi: 10.1136/jmg-2022-108790. Epub ahead of print.
- PMID: 36442995
- PubMed abstract
- Source abstract
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- Halo Diagnostics, Ikonopedia Partner to Provide Genetic Testing for Breast Cancer.
- [No author given]
- Precision Oncology News. 2022 Nov 28.
- News
- Free Full Text
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- UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
- Hanson H, Kulkarni A, Loong L, Kavanaugh G, Torr B, Allen S, Ahmed M, Antoniou AC, Cleaver R, Dabir T, Evans DG, Golightly E, Jewell R, Kohut K, Manchanda R, Murray A, Murray J, Ong KR, Rosenthal AN, Woodward ER, Eccles DM, Turnbull C, Tischkowitz M; Consensus meeting attendees, Lalloo F.
- J Med Genet. 2022 Nov 21:jmg-2022-108898. doi: 10.1136/jmg-2022-108898. Epub ahead of print.
- PMID: 36411032
- PubMed abstract
- Guideline
- Free Full Text
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- Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.
- Kratz CP, Smirnov D, Autry R, Jäger N, Waszak SM, Großhennig A, Berutti R, Wendorff M, Hainaut P, Pfister SM, Prokisch H, Ripperger T, Malkin D.
- J Natl Cancer Inst. 2022 Nov 14;114(11):1523-1532. doi: 10.1093/jnci/djac151.
- PMID: 35980168
- PubMed abstract
- Meta-Analysis
- Free Full Text
•• Letter, Commentary:
RE: Heterozygous BRCA1/BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.
- PMID: 36495190
- PubMed abstract
- Source abstract
•• Letter, Reply:
Reply to Evans and Woodward.
- PMID: 36495208
- PubMed abstract
- Source abstract
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- Systematic mapping review of guidelines for BRCA1/2 genetic testing globally: investigating geographic and regional disparities in health equity for women and families at risk for hereditary ovarian cancer.
- Hughes BN, Jorgensen KA, Cummings S, Morah D, Krause K, Rauh-Hain JA, Herzog TJ.
- Int J Gynecol Cancer. 2022 Nov 11:ijgc-2022-003913. doi: 10.1136/ijgc-2022-003913. Epub ahead of print.
- PMID: 36368709
- PubMed abstract
- Source abstract
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- Genetic Testing Proves Significant in Identifying Somatic and Germline Mutations in Prostate Cancer.
- Hollasch M, Antonarakis ES.
- OncLive. 2022 Nov 11.
- Review
- Free Full Text
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- Prostate Cancer Has High Rate of Actionable Mutations, Underscoring Need for Testing.
- Rosa K, Antonarakis ES.
- OncLive. 2022 Nov 11.
- Review
- Free Full Text
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- Dr. Shore on the Importance of Genetic Testing in Prostate Cancer.
- Shore N.
- OncLive. OncLive TV. 2022 Nov 11.
- Video
- Free video
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- Implementation of multigene panel testing for breast and ovarian cancer in South Africa: a step towards excellence in Oncology for the public sector.
- Van Der Merwe NC, Ntaita KS, Stofberg H, Combrink HM, Oosthuizen J, Kotze MJ.
- Front Oncol. 2022 Nov 8;12:938561. doi: 10.3389/fonc.2022.938561.
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- Testing a deliberative democracy method with citizens of African ancestry to weigh pros and cons of targeted screening for hereditary breast and ovarian cancer risk.
- Guan Y, Pathak S, Ballard D, Veluswamy JK, McCullough LE, McBride CM, Gornick MC.
- Front Public Health. 2022 Nov 8;10:984926. doi: 10.3389/fpubh.2022.984926.
- PMID: 36424974
- PubMed abstract
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- Clinical application of artificial neural network (ANN) modeling to predict BRCA1/2 germline deleterious variants in Chinese bilateral primary breast cancer patients.
- Li Y, Chen L, Lv J, Chen X, Zeng B, Chen M, Guo W, Lin Y, Yu L, Hou J, Li J, Zhou P, Zhang W, Li S, Jin X, Cai W, Zhang K, Huang Y, Wang C, Fu F.
- BMC Cancer. 2022 Nov 2;22(1):1125. doi: 10.1186/s12885-022-10160-y.
- PMID: 36324133
- PubMed abstract
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- Interdisciplinary risk counseling for hereditary breast and ovarian cancer: real-world data from a specialized center.
- Zang B, Helms M, Besch L, Kalmbach N, Stegen S, Blohmer JU, Speiser D.
- Arch Gynecol Obstet. 2022 Oct 28. doi: 10.1007/s00404-022-06819-3. Epub ahead of print.
- PMID: 36307613
- PubMed abstract
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- From the patient to the population: Use of genomics for population screening.
- Mighton C, Shickh S, Aguda V, Krishnapillai S, Adi-Wauran E, Bombard Y.
- Front Genet. 2022 Oct 24;13:893832. doi: 10.3389/fgene.2022.893832.
- PMID: 36353115
- PubMed abstract
- Review
- Free PMC article
- Free Full Text
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- Overview on population screening for carriers with germline BRCA mutation in China.
- Lei H, Zhang M, Zhang L, Hemminki K, Wang X, Chen T.
- Front Oncol. 2022 Oct 24;12:1002360. doi: 10.3389/fonc.2022.1002360.
- Review
- Free Full Text
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- An Accessible Communication System for Population-Based Genetic Testing: Development and Usability Study.
- Coffin T, Bowen D, Swisher E, Lu K, Rayes N, Norquist B, Blank S, Levine D, Bakkum-Gamez J, Fleming G, Olopade O, D'Andrea A, Nebgen D, Peterson C, Munsell M, Gavin K, Lechner R, Crase J, Polinsky D, Romero I.
- JMIR Form Res. 2022 Oct 17;6(10):e34055. doi: 10.2196/34055.
- PMID: 36251350
- PubMed abstract
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- Hereditary Breast and Ovarian Cancer Service in Sparsely Populated Western Pomerania.
- Felbor U, Bülow R, Schmutzler RK, Rath M.
- Healthcare (Basel). 2022 Oct 13;10(10):2021. doi: 10.3390/healthcare10102021.
- PMID: 36292468
- PubMed abstract
- Source abstract
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- Genetic Testing Challenges in Oncology: Missed Variant Update Delays Li-Fraumeni Diagnosis.
- Ray T.
- Precision Oncology News. 2022 Oct 12.
- Case report
- Free Full Text
Special article:
Is there a duty to reinterpret genetic data? The ethical dimensions.
- PMID: 31616070
- PubMed abstract
- Free Full Text
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- Provider discussion of genetic counseling among high-risk Spanish-preferring Latina breast cancer survivors.
- Conley CC, Rivera Rivera JN, Castro-Figueroa EM, Moreno L, Dutil J, García JD, Ricker C, Quinn GP, Soliman H, Vadaparampil ST.
- Transl Behav Med. 2022 Oct 7;12(9):900-908. doi: 10.1093/tbm/ibac031.
- PMID: 36205471
- PubMed abstract
- Source abstract
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- Population genomic screening: Ethical considerations to guide age at implementation.
- Spencer SJ, Fullerton SM.
- Front Genet. 2022 Oct 4;13:899648. doi: 10.3389/fgene.2022.899648.
- PMID: 36267415
- PubMed abstract
- Review
- Free Full Text
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- Genetic testing for patients at risk of hereditary breast and ovarian cancer.
- DeTroye A, Gabbett K, Yi C, Judice M, Luu V, Nelson B, Gregory T.
- JAAPA. 2022 Oct 1;35(10):48-52. doi: 10.1097/01.JAA.0000873796.81961.da.
- PMID: 36165549
- PubMed abstract
- Source abstract
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- Evaluation of a mainstream genetic testing program for women with ovarian or breast cancer.
- Ip E, Young AL, Scheinberg T, Harrison M, Beale P, Goodwin A.
- Asia Pac J Clin Oncol. 2022 Oct;18(5):e414-e419. doi: 10.1111/ajco.13741. Epub 2022 Jan 30.
- PMID: 35098668
- PubMed abstract
- Source abstract
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- Integrating hereditary breast and ovarian cancer genetic counselling and testing into mainstream clinical practice: Legal and ethical challenges.
- Charron M, Kaiser B, Dauge A, Gallois H, Lapointe J, Dorval M, Nabi H, Joly Y.
- Crit Rev Oncol Hematol. 2022 Oct;178:103797. doi: 10.1016/j.critrevonc.2022.103797. Epub 2022 Aug 27.
- PMID: 36031172
- PubMed abstract
- Source abstract
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- BRCA1/2 Variants Identified Through Tumor Genomic Profiling: Assessing Genetic Counseling Outcomes.
- Harriman JW, Espinel WF, Vagher J, Gammon A.
- JCO Precis Oncol. 2022 Oct;6:e2100375. doi: 10.1200/PO.21.00375.
- PMID: 36201716
- PubMed abstract
- Source abstract
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- Attitudes and training needs of oncologists and surgeons in mainstreaming breast cancer genetic counseling in a low-to-middle income Asian country.
- Lee YQ, Yoon SY, Hassan T, Padmanabhan H, Yip CH, Keng WT, Thong MK, Ahmad Annuar MA, Mohd Taib NA, Teo SH.
- J Genet Couns. 2022 Oct;31(5):1080-1089. doi: 10.1002/jgc4.1579. Epub 2022 Apr 28.
- PMID: 35481858
- PubMed abstract
- Source abstract
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- Cross-sectional clinical cancer genomics community of practice survey analysis of provider attitudes and beliefs regarding the use of deceased family member tissue to guide living family member genetic cancer risk assessment.
- Nehoray B, Slavin TP, Sun CL, Hurley K, King E, Tsang KK, Cervantes A, Mokhnatkin JV, Sand S, Mejia R, Reb A, Samimi G, Gray S, Blazer KR, Weitzel JN.
- J Genet Couns. 2022 Oct;31(5):1164-1172. doi: 10.1002/jgc4.1587. Epub 2022 May 26.
- PMID: 35617031
- PubMed abstract
- Source abstract
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- Validation of the Knowledge of Genome Sequencing (KOGS) scale in cancer patients.
- Butow P, Napier C, Campbell R, Bartley N, Best M, Ballinger ML.
- Patient Educ Couns. 2022 Oct;105(10):3110-3115. doi: 10.1016/j.pec.2022.06.009. Epub 2022 Jun 16.
- PMID: 35738962
- PubMed abstract
- Source abstract
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- Mutation Patterns in Portuguese Families with Hereditary Breast and Ovarian Cancer Syndrome.
- Vicente R, Alpuim Costa D, Vitorino M, Mendes AD, Santos C, Fontes-Sousa M.
- Cancers (Basel). 2022 Sep 28;14(19):4717. doi: 10.3390/cancers14194717.
- PMID: 36230639
- PubMed abstract
- Source abstract
- Review
- Free PMC article
- Free Full Text
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- Returning individual genomic results to population-based cohort study participants with BRCA1/2 pathogenic variants.
- Ohneda K, Hamanaka Y, Kawame H, Fuse N, Nagami F, Suzuki Y, Yamaguchi-Kabata Y, Shimada M, Masamune A, Aoki Y, Ishida T, Yamamoto M.
- Breast Cancer. 2022 Sep 26. doi: 10.1007/s12282-022-01404-7. Epub ahead of print.
- PMID: 36161580
- PubMed abstract
- Source abstract
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- Using Social Media to Facilitate Communication About Women's Testing: Tool Validation Study.
- Coffin T, Bowen D, Lu K, Swisher EM, Rayes N, Norquist B, Blank SV, Levine DA, Bakkum-Gamez JN, Fleming GF, I Olopade O, Romero I, D'Andrea A, Nebgen DR, Peterson C, Munsell MF, Gavin K, Crase J, Polinsky D, Lechner R.
- JMIR Form Res. 2022 Sep 26;6(9):e35035. doi: 10.2196/35035.
- PMID: 36155347
- PubMed abstract
Identifier: NCT02993068: Stand up to Cancer: MAGENTA (Making Genetic Testing Accessible). (ClinicalTrials.gov)
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- Genetic Tests Create Treatment Opportunities and Confusion for Breast Cancer Patients.
- Andrews M.
- KHN [Kaiser Health News]. 2022 Sep 21.
- Press
- Free Full Text
Press: Genetic Tests Create Treatment Opportunities and Confusion for Breast Cancer Patients. (Medscape)
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- Implementation and outcome evaluations of a multi-site improvement program in cancer genetics.
- Bednar EM, Harper B, Walsh MT Jr, Rechis R, Bilbao M, Carr RL, Eppolito AL, Goedde T, Levin B, Mattie K, Morman NA, Rath K, Russ P, Siettmann JM, Warshal D, Wise E, Yobbi C, Lu KH.
- J Genet Couns. 2022 Sep 19. doi: 10.1002/jgc4.1633. Epub ahead of print.
- PMID: 36117454
- PubMed abstract
- Source abstract
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- Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients With Solid Tumor Cancer.
- Esplin ED, Nielsen SM, Bristow SL, Garber JE, Hampel H, Rana HQ, Samadder NJ, Shore ND, Nussbaum RL.
- JCO Precis Oncol. 2022 Sep [2022 Sep 15];6:e2100516. doi: 10.1200/PO.21.00516.
- PMID: 36108258
- PubMed abstract
- Source abstract
- Commentary
- Free Full Text
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- Somatic tumor mutations in moderate risk cancer genes: Targets for germline confirmatory testing.
- Llorin H, Graf M, Chun N, Ford J.
- Cancer Genet. 2022 Sep 6;268-269:22-27. doi: 10.1016/j.cancergen.2022.09.001. Epub ahead of print.
- PMID: 36116289
- PubMed abstract
- Source abstract
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- What can we learn from more than 1000 Brazilian patients at risk of hereditary cancer?
- Leite ACR, Suzuki DA, Pereira AAL, Machado NP, Barroso-Sousa R, Correa TS, Moura FC, Morbeck IAP, Gumz BP, Faria LDBB, Fernandes GDS, Sandoval RL.
- Front Oncol. 2022 Sep 5;12:963910. doi: 10.3389/fonc.2022.963910.
- PMID: 36132150
- PubMed abstract
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- Screening for Individuals at Risk for Hereditary Breast and Ovarian Cancer: A Statewide Initiative, Georgia, 2012-2020.
- Veitinger JK, Kerber AS, Gabram-Mendola SGA, Liu Y, Durham LM, Durrence D, Berzen AK, Shin JY, Snyder C, Bellcross CA, Guan Y.
- Am J Public Health. 2022 Sep;112(9):1249-1252. doi: 10.2105/AJPH.2022.306932. Epub 2022 Jul 21.
- PMID: 35862880
- PubMed abstract
- Source abstract
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- Primary care physician referral practices regarding BRCA1/2 genetic counseling in a major health system.
- Linfield DT, Rothberg MB, Pfoh ER, Noss R, Cassard L, Powers JC, Lipold L, Martinez KA.
- Breast Cancer Res Treat. 2022 Sep;195(2):153-160. doi: 10.1007/s10549-022-06523-5. Epub 2022 Jul 16.
- PMID: 35842521
- PubMed abstract
- Source abstract
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- Uptake of genetic counseling and testing in a clinic-based population of women with breast cancer.
- Wehbe A, Manning M, Assad H, Purrington KS, Simon MS.
- Cancer Med. 2022 Sep;11(17):3304-3311. doi: 10.1002/cam4.4684. Epub 2022 Mar 23.
- PMID: 35322585
- PubMed abstract
- Source abstract
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- Implementing universal upfront multi-gene panel testing in endometrial cancer: From cost to practical considerations.
- Levine MD, Barrington DA, Hampel H, Goodfellow PJ, Cohn DE.
- Gynecol Oncol. 2022 Sep;166(3):538-542. doi: 10.1016/j.ygyno.2022.07.016. Epub 2022 Jul 21.
- PMID: 35871048
- PubMed abstract
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- Leveraging an Informatics Approach to Identify an Unmet Clinical Need for BRCA1/2 Testing Among Patients With Ovarian Cancer.
- Gray SW, Ottesen RA, Currey M, Cristea M, Nikowitz J, Shehayeb S, Lozano V, Hom J, Kilburn J, Lopez LN, Wing S, Sosa E, Shen J, Morris M, Dilsizian B, Joseph T, Shen J, Adeimy C, Phillips T, Bahadini B, Niland JC.
- JCO Clin Cancer Inform. 2022 Sep;6:e2200034. doi: 10.1200/CCI.22.00034.
- PMID: 36049148
- PubMed abstract
- Source abstract
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- Call for action: expanding global access to hereditary cancer genetic testing.
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- Public Interest in Population Genetic Screening for Cancer Risk.
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- Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting.
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- Genetic Testing and Its Clinical Application in Prostate Cancer Management: Consensus Statements from the Hong Kong Urological Association and Hong Kong Society of Uro-Oncology.
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- Identification of women at risk of hereditary breast-ovarian cancer among participants in a population-based breast cancer screening.
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- Clinical OMICs. 2020 Jun 2.
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- Managing a woman with BRCA mutations? Shared decision-making is key.
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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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- Identifying Ashkenazi Jewish BRCA1/2 founder variants in individuals who do not self-report Jewish ancestry.
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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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- Population Screening for Inherited Predisposition to Breast and Ovarian Cancer.
- Manchanda R, Lieberman S, Gaba F, Lahad A, Levy-Lahad E.
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- Unanswered Questions: Hereditary breast and gynecological cancer risk assessment in transgender adolescents and young adults.
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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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- Optimal age for genetic cancer predisposition testing in hereditary SMARCA4 Ovarian Cancer Families: How young is too young?
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- Myriad Genetics BRCA Test to be Reimbursed in Japan.
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- Young Women With Breast Cancer: Treatment, Care, and Nursing Implications.
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- Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History.
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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.
- Alvord TW, Marriott LK, Nguyen PT, Shafer A, Brown K, Stoller W, Volpi JL, Vandehey-Guerrero J, Ferrara LK, Blakesley S, Solomon E, Kuehl H, Palma AJ, Farris PE, Hamman KJ, Cotter M, Shannon J.
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- Genetic Testing for Cancer Predisposition Syndromes in Adolescents and Young Adults (AYAs)
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- Prevalence and Spectrum of Pathogenic Germline Variants in Japanese Patients With Early-Onset Colorectal, Breast, and Prostate Cancer.
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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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- Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field.
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CME Activity:
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- Experts say more women should be tested for BRCA1 and BRCA2 genetic mutations.
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- Transmission of X-linked Ovarian Cancer: Characterization and Implications.
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- Despite Barriers, Labs Starting to Report Suspected Cancer Risk Mutations Seen in Tumor Testing.
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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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- Italian Men Tested for BRCA1/2 Mutation: Psychological Distress during 6-Month Follow-Up.
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- Mainstreamed genetic testing of breast cancer patients in two hospitals in South Eastern Norway.
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- Decision Memo for Next Generation Sequencing (NGS) for Medicare Beneficiaries with Advanced Cancer (CAG-00450R)
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- CMS to Cover FDA-Approved, -Cleared NGS Germline Tests for Breast, Ovarian Cancer Patients.
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- Genetic Testing in Prostate Cancer.
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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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- Genetic testing for epithelial ovarian cancer.
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- Applications of Next Generation Sequencing to the Analysis of Familial Breast/Ovarian Cancer.
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- Cascading After Peridiagnostic Cancer Genetic Testing: An Alternative to Population-Based Screening.
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- Mental Illness and BRCA1/2 Genetic Testing Intention Among Multiethnic Women Undergoing Screening Mammography.
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- SEOM clinical guidelines in hereditary breast and ovarian cancer (2019).
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- Myriad Data Supports Polygenic Score Value Even in Canonical Mutation Carriers.
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- Online BRCA1/2 screening in the Australian Jewish community: a qualitative study.
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- Ambry Genetics Gains NYS Approval for Paired RNA, DNA Genetic Test.
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- Black Women's Confidence in the Genetic Information Nondiscrimination Act.
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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).
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- Genetic Testing Challenges in Oncology: False Positive After Testing at Pop-Up Booth.
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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:
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- Study on the differences of opinions and choices of high-risk breast cancer populations in China before and after genetic testing.
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- Transl Cancer Res. 2019 Dec;8(8):2893-2905. doi: 10.21037/tcr.2019.11.43.
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- Retesting of women who are negative for a BRCA1 and BRCA2 mutation using a 20-gene panel.
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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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- Identification of novel BRCA1 large genomic rearrangements by a computational algorithm of amplicon-based Next-Generation Sequencing data.
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- Ethical Issues in Newborn Sequencing Research: The Case Study of BabySeq.
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- Hereditary prostate cancer - Primetime for genetic testing?
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- Geisinger MyCode® detects BRCA2 mutation prior to abdominal panniculectomy allowing for DIEP flap breast reconstruction.
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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.
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- Impact of Genetic Testing on Risk-Management Behavior of Black Breast Cancer Survivors: A Longitudinal, Observational Study.
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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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- Epigenetic Risk Assessment of Female Cancers: Women's Information Needs and Attitudes.
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- A cost-effectiveness analysis of universal genetic testing for common hereditary cancer mutations in women compared with family-history based testing.
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- Exploring genetic counselors' perceptions of usefulness and intentions to use refined risk models in clinical care based on the Technology Acceptance Model (TAM).
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- Identifying disparities in germline and somatic testing for ovarian cancer.
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- Non-BRCA1/2 Variants Detected in a High-Risk Chilean Cohort With a History of Breast and/or Ovarian Cancer.
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- Women's perceptions of personalized risk-based breast cancer screening and prevention: An international focus group study.
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- Cases in Precision Medicine: When Patients Present With Direct-to-Consumer Genetic Test Results.
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- Quantifying risk stratification provided by diagnostic tests and risk predictions: Comparison to AUC and decision curve analysis.
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- Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples.
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- Scientific supremacy as an obstacle to establishing and sustaining interdisciplinary dialogue across knowledge paradigms in health medicine.
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Commentary:
Our genes, our selves: hereditary breast cancer and biological citizenship in Norway.
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Our genes, our selves: hereditary breast cancer and biological citizenship in Norway.
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- Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs).
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- "A natural progression" - Australian women's attitudes about an individualised breast screening model.
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- Family communication and patient distress after germline genetic testing in individuals with pancreatic ductal adenocarcinoma.
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- Contribution of BRCA1 5382insC mutation in triple negative breast cancer in Tunisia.
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- Genetic Testing and Results in a Population-Based Cohort of Breast Cancer Patients and Ovarian Cancer Patients.
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- 23andMe DTC Breast and Ovarian Cancer Risk Test Misses Almost 90 Percent of BRCA Mutation Carriers.
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- Germline Genetic Testing: What the Breast Surgeon Needs to Know.
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- Cytology material is equivalent to tumor tissue in determining mutations of BRCA 1/2 genes in patients with tubo-ovarian high grade serous carcinoma.
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- Genetic counselling of young women with breast cancer for Li-Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals.
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- Disparities in gynecologic cancer genetics evaluation.
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- Current Approaches to Cancer Genetic Counseling Services for Spanish-Speaking Patients.
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- Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels.
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- A systematic review of international guidelines and recommendations for the genetic screening, diagnosis, genetic counseling, and treatment of BRCA-mutated breast cancer.
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- Ambry and My Gene Counsel Team Up on Tests to Confirm DTC Results, Counseling.
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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.
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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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- RE: Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.
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Letter, reply:
Response to Peshkin, Isaacs, and Schwartz.
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- Prevalence of BRCA1 and BRCA2 pathogenic variants in a large, unselected breast cancer cohort.
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- BRCA mutation testing for ovarian cancer in the context of available targeted therapy: Survey and consensus of Hong Kong specialists.
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- Genetic testing and insurance in Australia.
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- Author response to "a response to 'personalised medicine and population health: breast and ovarian cancer'".
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A response to "Personalised medicine and population health: breast and ovarian cancer".
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Personalised medicine and population health: breast and ovarian cancer.
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- Economic modeling of risk-adapted screen-and-treat strategies in women at high risk for breast or ovarian cancer.
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- Psychosocial, attitudinal, and demographic correlates of cancer-related germline genetic testing in the 2017 Health Information National Trends Survey.
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- Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis.
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- Trends in BRCA Test Utilization in an Integrated Health System, 2005-2015.
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Editorial:
Persistent underutilization of BRCA1/2 testing suggest the need for new approaches to genetic testing delivery.
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- Genetic Service Delivery Models: Exploring Approaches to Care for Families With Hereditary Cancer Risk.
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- The impact of variant classification on the clinical management of hereditary cancer syndromes.
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- [Hereditary predisposition to breast cancer (1): genetics].
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- Guidelines-Based Cancer Risk Assessment.
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- Genomic Features and Clinical Management of Patients with Hereditary Pancreatic Cancer Syndromes and Familial Pancreatic Cancer.
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- A Pragmatic Testing-Eligibility Framework for Population Mutation Screening: The Example of BRCA1/2.
- Best AF, Tucker MA, Frone MN, Greene MH, Peters JA, Katki HA.
- Cancer Epidemiol Biomarkers Prev. 2019 Feb;28(2):293-302. doi: 10.1158/1055-9965.EPI-18-0584. Epub 2019 Jan 28.
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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).
- Ramírez-Calvo M, García-Casado Z, Fernández-Serra A, de Juan I, Palanca S, Oltra S, Soto JL, Castillejo A, Barbera VM, Juan-Fita MJ, Segura Á, Chirivella I, Sánchez AB, Tena I, Chaparro C, Salas D, López-Guerrero JA.
- Hered Cancer Clin Pract. 2019 Jan 18;17:3. doi: 10.1186/s13053-019-0104-x. eCollection 2019.
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- Overestimation of the Benefit-to-Harm Ratio of Risk-Based Mammography Screening in the United Kingdom.
- Autier P.
- JAMA Oncol. 2019 Jan 17. doi: 10.1001/jamaoncol.2018.6501. [Epub ahead of print]
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Letter, Reply:
Overestimation of the Benefit-to-Harm Ratio of Risk-Based Mammography Screening in the United Kingdom-Reply.
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Original research:
Cost-effectiveness and Benefit-to-Harm Ratio of Risk-Stratified Screening for Breast Cancer: A Life-Table Model.
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- Food and drug administration's regulatory shift on direct-to-consumer genetic tests for cancer risk.
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- Cancer. 2019 Jan 1;125(1):12-14. doi: 10.1002/cncr.31773. Epub 2018 Nov 2.
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- Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.
- Caswell-Jin JL, Zimmer AD, Stedden W, Kingham KE, Zhou AY, Kurian AW.
- J Natl Cancer Inst. 2019 Jan 1;111(1):95-98. doi: 10.1093/jnci/djy147.
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Letter, comment:
RE: Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.
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Letter, reply:
Response to Peshkin, Isaacs, and Schwartz.
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- Molecular Testing in Breast Cancer.
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- Am Soc Clin Oncol Educ Book. 2019 Jan;(39):e1-e7. doi: 10.1200/EDBK_237715.
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- High patient satisfaction with a simplified BRCA1/2 testing procedure: long-term results of a prospective study.
- Nilsson MP, Nilsson ED, Borg Å, Brandberg Y, Silfverberg B, Loman N.
- Breast Cancer Res Treat. 2019 Jan;173(2):313-318. doi: 10.1007/s10549-018-5000-y. Epub 2018 Oct 11.
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- BRCA mutations: is everything said?
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- European Breast Cancer Council manifesto 2018: Genetic risk prediction testing in breast cancer.
- Rutgers E, Balmana J, Beishon M, Benn K, Evans DG, Mansel R, Pharoah P, Perry Skinner V, Stoppa-Lyonnet D, Travado L, Wyld L.
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- Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer-an European consensus statement and expert recommendations.
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- Psychosocial and behavioral outcomes of genomic testing in cancer: a systematic review.
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- Capillary electrophoresis as alternative method to detect tumor genetic mutations: the model built on the founder BRCA1 c.4964_4982del19 variant.
- De Bonis M, Minucci A, Scaglione GL, De Paolis E, Zannoni G, Scambia G, Capoluongo E.
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- Development of Breast Cancer Choices: a decision support tool for young women with breast cancer deciding whether to have genetic testing for BRCA1/2 mutations.
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