Studies with VUS carriers as study group cohort
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- Survival outcomes in patients with BRCA mutated, variant of unknown significance, and wild type ovarian cancer treated with PARP inhibitors.
- Musacchio L, Boccia S, Marchetti C, Minucci A, Camarda F, Cassani C, Ventriglia J, Salutari V, Ghizzoni V, Giudice E, Perri MT, Carbone MV, Ricci C, Pignata S, Fagotti A, Scambia G, Lorusso D.
- Int J Gynecol Cancer. 2023 Feb 9:ijgc-2022-003903. doi: 10.1136/ijgc-2022-003903. Epub ahead of print.
- PMID: 36759000
- PubMed abstract
- Source abstract
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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
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- 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
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- 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
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- 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