Studies with VUS carriers as study group cohort
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- Use of breast surveillance between women with pathogenic variants and variants of uncertain significance in breast cancer susceptibility genes.
- Makhnoon S, Chen M, Levin B, Ensinger M, Mattie KD, Grana G, Shete S, Arun BK, Peterson SK.
- Cancer. 2022 Oct;128(20):3709-3717. doi: 10.1002/cncr.34429. Epub 2022 Aug 23.
- PMID: 35996941
- PubMed abstract
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- Influence of germline test results on surgical decision making in women with invasive breast cancer.
- Vargason AB, Turner CE, Shriver CD, Ellsworth RE.
- Cancer Genet. 2022 Aug;266-267:81-85. doi: 10.1016/j.cancergen.2022.07.003. Epub 2022 Jul 13.
- PMID:35868102
- PubMed abstract
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- Experiences of individuals with a variant of uncertain significance on genetic testing for hereditary cancer risks: a mixed method systematic review.
- Gould D, Walker R, Makari-Judson G, Seven M.
- J Community Genet. 2022 Aug;13(4):371-379. doi: 10.1007/s12687-022-00600-4. Epub 2022 Jul 12.
- PMID: 35819584
- PubMed abstract
- Source abstract
- Review
- Free PMC article
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- How does re-classification of variants of unknown significance (VUS) impact the management of patients at risk for hereditary breast cancer?
- Kwong A, Ho CYS, Shin VY, Au CH, Chan TL, Ma ESK.
- BMC Med Genomics. 2022 May 31;15(1):122. doi: 10.1186/s12920-022-01270-4.
- PMID: 35641994
- PubMed abstract
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- Genetic Counseling, Screening and Risk-Reducing Surgery in Patients with Primary Breast Cancer and Germline BRCA Mutations: Unmet Needs in Low- and Middle-Income Countries.
- Moukadem HA, Al Masry A, Atwani RW, Kreidieh F, Khalil LE, Saroufim R, Daouk S, Dalle IA, El Saghir NS.
- Eur J Breast Health. 2021 Dec 30;18(1):16-20. doi: 10.4274/ejbh.galenos.2021.2021-5-1.
- PMID: 35059587
- PubMed abstract
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- Uncertainty following an inconclusive result from the BRCA1/2 genetic test: A review about psychological outcomes.
- Bramanti SM, Trumello C, Lombardi L, Cavallo A, Stuppia L, Antonucci I, Babore A.
- World J Psychiatry. 2021 May 19;11(5):189-200. doi: 10.5498/wjp.v11.i5.189.
- PMID: 34046315
- PubMed abstract
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- Review
- Free PMC article
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- Clinical management among individuals with variant of uncertain significance in hereditary cancer: A systematic review and meta-analysis.
- Makhnoon S, Bednar EM, Krause KJ, Peterson SK, Lopez-Olivo MA.
- Clin Genet. 2021 Apr 12. doi: 10.1111/cge.13966. Epub ahead of print.
- PMID: 33843052
- PubMed abstract
- Free Full Text
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- Economic impact of multigene panel testing for hereditary breast and ovarian cancer.
- Byfield SD, Wei H, DuCharme M, Lancaster JM.
- J Comp Eff Res. 2021 Jan 25. doi: 10.2217/cer-2020-0192. Epub ahead of print.
- PMID: 33491479
- PubMed abstract
- Source abstract
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- Genome-Wide Gene Expression Analyses of BRCA1- and BRCA2-Associated Breast and Ovarian Tumours.
- Wiggins GAR, Walker LC, Pearson JF.
- Cancers (Basel). 2020 Oct 16;12(10):3015. doi: 10.3390/cancers12103015.
- PMID: 33081408
- PubMed abstract
- Source abstract
- Review
- Free PMC article
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- Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing.
- Mersch J, Brown N, Pirzadeh-Miller S, Mundt E, Cox HC, Brown K, Aston M, Esterling L, Manley S, Ross T.
- JAMA. 2018 Sep 25;320(12):1266-1274. doi: 10.1001/jama.2018.13152.
- PMID: 30264118
- PubMed abstract
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Editorial:
Making Sense of the Genome Remains a Work in Progress
- PMID: 30264098
- PubMed abstract
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Editorial:
Multitiered Questions Regarding Multigene Testing for Cancer Susceptibility.
- PMID: 30264135
- PubMed abstract
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- Contralateral prophylactic mastectomy rate and predictive factors among patients with breast cancer who underwent multigene panel testing for hereditary cancer.
- Elsayegh N, Webster RD, Gutierrez Barrera AM, Lin H, Kuerer HM, Litton JK, Bedrosian I, Arun BK.
- Cancer Med. 2018 Jun;7(6):2718-2726. doi: 10.1002/cam4.1519. Epub 2018 May 7.
- PMID: 29733510
- PubMed abstract
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- Risk management decisions in women with BRCA1 and BRCA2 mutations.
- Morgan R, Brown A, Hamman KJ, Sampson J, Naik A, Massimino K.
- Am J Surg. 2018 May;215(5):899-903. doi: 10.1016/j.amjsurg.2018.02.010. Epub 2018 Feb 13.
- PMID: 29499861
- PubMed abstract
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- Surgical Findings and Outcomes in Premenopausal Breast Cancer Patients Undergoing Oophorectomy: A Multicenter Review From the Society of Gynecologic Surgeons Fellows Pelvic Research Network.
- Harvey LFB, Abramson VG, Alvarez J, DeStephano C, Hur HC, Lee K, Mattingly P, Park B, Piszczek C, Seifi F, Stuparich M, Yunker A.
- J Minim Invasive Gynecol. 2018 Jan;25(1):111-115. doi: 10.1016/j.jmig.2017.08.643. Epub 2017 Aug 15.
- PMID: 28821472
- PubMed abstract
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- Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing.
- Balmaña J, Digiovanni L, Gaddam P, Walsh MF, Joseph V, Stadler ZK, Nathanson KL, Garber JE, Couch FJ, Offit K, Robson ME, Domchek SM.
- J Clin Oncol. 2016 Dec;34(34):4071-4078. Epub 2016 Sep 30.
- PMID: 27621404
- PubMed abstract
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Letter:
Clinical Genetics Testing Laboratories Have a Remarkably Low Rate of Clinically Significant Discordance When Interpreting Variants in Hereditary Cancer Syndrome Genes.
- PMID: 28135136
- PubMed abstract
- Free Full Text
Letter:
Reply to R. Nussbaum et al and J. Dolinsky et al.
- PMID: 28135137
- PubMed abstract
- Free Full Text
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- Conservative mastectomies for breast cancer and risk-reducing surgery: the Memorial Sloan Kettering Cancer Center experience.
- Manning AT, Sacchini VS.
- Gland Surg. 2016 Feb;5(1):55-62. doi: 10.3978/j.issn.2227-684X.2015.10.02.
- PMID: 26855909
- PubMed abstract
- Source abstract
- Review
- Free PMC article
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- Association of polymorphisms with a family history of cancer and the presence of germline mutations in the BRCA1/BRCA2 genes.
- Fernandes GC, Michelli RA, Scapulatempo-Neto C, Palmero EI.
- Hered Cancer Clin Pract. 2016 Jan 13;14:2. doi: 10.1186/s13053-015-0042-1. eCollection 2016.
- PMID: 26770289
- PubMed abstract
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- Nipple-sparing mastectomy in patients with BRCA1/2 mutations and variants of uncertain significance.
- Manning AT, Wood C, Eaton A, Stempel M, Capko D, Pusic A, Morrow M, Sacchini V.
- Br J Surg. 2015 Oct;102(11):1354-9. doi: 10.1002/bjs.9884. Epub 2015 Aug 27.
- PMID: 26313374
- PubMed abstract
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- MSH2 role in BRCA1-driven tumorigenesis: A preliminary study in yeast and in human tumors from BRCA1-VUS carriers.
- Maresca L, Spugnesi L, Lodovichi S, Cozzani C, Naccarato AG, Tancredi M, Collavoli A, Falaschi E, Rossetti E, Aretini P, Cervelli T, Galli A, Caligo MA.
- Eur J Med Genet. 2015 Oct;58(10):531-9. doi: 10.1016/j.ejmg.2015.09.005. Epub 2015 Sep 14.
- PMID: 26381082
- PubMed abstract
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- Second primary breast cancer in BRCA1 and BRCA2 mutation carriers: 10-year cumulative incidence in the Breast Cancer Family Registry.
- Menes TS, Terry MB, Goldgar D, Andrulis IL, Knight JA, John EM, Liao Y, Southey M, Miron A, Chung W, Buys SS.
- Breast Cancer Res Treat. 2015 Jun;151(3):653-60. doi: 10.1007/s10549-015-3419-y. Epub 2015 May 15.
- PMID: 25975955
- PubMed abstract
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- Comparison of risk management strategies between women testing positive for a BRCA variant of unknown significance and women with known BRCA deleterious mutations.
- Garcia C, Lyon L, Littell RD, Powell CB.
- Genet Med. 2014 Dec;16(12):896-902. doi: 10.1038/gim.2014.48. Epub 2014 May 22.
- PMID: 24854227
- PubMed abstract
- Source abstract