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- Hollestelle, Antoinette, et al.
(författare)
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No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
- 2016
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Ingår i: Gynecologic Oncology. - : Elsevier BV. - 0090-8258 .- 1095-6859. ; 141:2, s. 386-401
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Tidskriftsartikel (refereegranskat)abstract
- Objective Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3′ UTR microRNA binding site, based on suggested associations with increased ovarian and breast cancer risk as well as with survival time. However, prior studies, emphasizing particular subgroups, were relatively small. Therefore, we comprehensively evaluated ovarian and breast cancer risks as well as clinical outcome associated with rs61764370. Methods Centralized genotyping and analysis were performed for 140,012 women enrolled in the Ovarian Cancer Association Consortium (15,357 ovarian cancer patients; 30,816 controls), the Breast Cancer Association Consortium (33,530 breast cancer patients; 37,640 controls), and the Consortium of Modifiers of BRCA1 and BRCA2 (14,765 BRCA1 and 7904 BRCA2 mutation carriers). Results We found no association with risk of ovarian cancer (OR = 0.99, 95% CI 0.94-1.04, p = 0.74) or breast cancer (OR = 0.98, 95% CI 0.94-1.01, p = 0.19) and results were consistent among mutation carriers (BRCA1, ovarian cancer HR = 1.09, 95% CI 0.97-1.23, p = 0.14, breast cancer HR = 1.04, 95% CI 0.97-1.12, p = 0.27; BRCA2, ovarian cancer HR = 0.89, 95% CI 0.71-1.13, p = 0.34, breast cancer HR = 1.06, 95% CI 0.94-1.19, p = 0.35). Null results were also obtained for associations with overall survival following ovarian cancer (HR = 0.94, 95% CI 0.83-1.07, p = 0.38), breast cancer (HR = 0.96, 95% CI 0.87-1.06, p = 0.38), and all other previously-reported associations. Conclusions rs61764370 is not associated with risk of ovarian or breast cancer nor with clinical outcome for patients with these cancers. Therefore, genotyping this variant has no clinical utility related to the prediction or management of these cancers.
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| 2. |
- Martin, Lene M, et al.
(författare)
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Rarebit perimetry and optic disk topography in pediatric glaucoma
- 2007
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Ingår i: Journal of pediatric ophthalmology and strabismus. - : SLACK, Inc.. - 0191-3913 .- 1938-2405. ; 44:4, s. 223-231
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: To determine the relationship between visual field and optic nerve topography findings in a cohort of children with pediatric glaucoma and an age-matched and sex-matched control SUBJECTS AND METHODS: Fifteen children, aged 6 to 15 years, with pediatric glaucoma in at least one eye and 15 age-matched and sex-matched healthy children were examined with best-corrected visual acuity and perimetry. When possible, scanning laser topography of the optic disk (ie, Heidelberg retinal tomography) was performed. RESULTS: Of 27 eyes in 15 children with pediatric glaucoma examined with Goldmann perimetry, 15 eyes (55%) had a normal visual field. Of 24 eyes examined with Rarebit perimetry, 8 eyes (33%) showed normal results and 16 eyes (67%) showed an abnormally low hit rate (ie, the fraction of seen targets vs presented targets). Nine of the 15 eyes showing normal Goldmann visual fields had a subnormal Rarebit hit rate. All children in the control group had normal Rarebit visual fields. Heidelberg retinal tomography could be performed in all healthy children and in 22 eyes of 13 children with pediatric glaucoma. The concordance between the Heidelberg retinal tomography classification (ie, normal or glaucoma) and the Rarebit results was high (Cohen's kappa = 0.79). A statistically significant correlation (r = 0.66, P = .006) between Rarebit hit rate and Heidelberg retinal tomography glaucoma index was found in the glaucoma group. CONCLUSIONS: Rarebit perimetry detected glaucomatous damage in various types of pediatric glaucoma, and can be assumed to be of value in both diagnosis and follow-up. In 13 children with glaucoma, Heidelberg retinal tomography could be performed. The results conformed well to Rarebit findings.
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