11. |
- Jiao, Xiang, et al.
(författare)
-
PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1
- 2017
-
Ingår i: Oncotarget. - : IMPACT JOURNALS LLC. - 1949-2553. ; 8:61, s. 102769-102782
-
Tidskriftsartikel (refereegranskat)abstract
- Most non-BRCA1/2 breast cancer families have no identified genetic cause. We used linkage and haplotype analyses in familial and sporadic breast cancer cases to identify a susceptibility locus on chromosome 6q. Two independent genome-wide linkage analysis studies suggested a 3 Mb locus on chromosome 6q and two unrelated Swedish families with a LOD > 2 together seemed to share a haplotype in 6q14.1. We hypothesized that this region harbored a rare high-risk founder allele contributing to breast cancer in these two families. Sequencing of DNA and RNA from the two families did not detect any pathogenic mutations. Finally, 29 SNPs in the region were analyzed in 44,214 cases and 43,532 controls from BCAC, and the original haplotypes in the two families were suggested as low-risk alleles for European and Swedish women specifically. There was also some support for one additional independent moderate-risk allele in Swedish familial samples. The results were consistent with our previous findings in familial breast cancer and supported a breast cancer susceptibility locus at 6q14.1 around the PHIP gene.
|
|
12. |
- Nilsson, M, et al.
(författare)
-
Early detection of macular changes in patients with diabetes using Rarebit Fovea Test and optical coherence tomography
- 2007
-
Ingår i: British Journal of Ophthalmology. - : BMJ. - 0007-1161 .- 1468-2079. ; 91:12, s. 1596-1598
-
Tidskriftsartikel (refereegranskat)abstract
- AIM: To evaluate central retinal thickness and foveal function using optical coherence tomography (OCT) and the Rarebit Fovea Test (RFT) in patients with diabetes without previously known retinopathy or maculopathy. METHOD: Forty-two patients with diabetes mellitus (DM) were selected from the screening records at St Erik Eye Hospital. Inclusion criteria were absence of macular or other retinal changes at previous screening examination and best corrected visual acuity >/=1.0. These patients and 42 healthy controls were examined with the recently developed RFT, and retinal thickness was measured using OCT. Lens thickness and light scatter were evaluated by Scheimpflug photography. RESULTS: Significantly more DM subjects (12/42) had a subnormal RFT result compared with the controls (2/42) (p = 0.007). None of the 12 DM subjects had maculopathy, one had mild non proliferative diabetic retinopathy, and five had minimal non-proliferative diabetic retinopathy. The retinal thickness in the pericentral zone was significantly (p<0.05) thinner in DM patients with subnormal RFT compared with the controls. CONCLUSION: Decreased RT and subnormal RFT results were found in a subgroup of diabetes patients, despite normal screening results. Prospective studies are under way to evaluate the prognostic implications.
|
|
13. |
|
|
14. |
|
|
15. |
|
|
16. |
|
|