| 1. |
- Siltanen, Sanna, et al.
(författare)
-
ARLTS1 germline variants and the risk for breast, prostate, and colorectal cancer
- 2008
-
Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 16:8, s. 983-91
-
Tidskriftsartikel (refereegranskat)abstract
- Recently, a nonsense alteration Trp149Stop in the ARLTS1 gene was found more frequently in familial cancer cases versus sporadic cancer patients and healthy controls. Here, the role of Trp149Stop or any other ARLTS1 germline variant was evaluated on breast, prostate, and colorectal cancer risk. The whole gene was screened for germline alterations in 855 familial cancer patients. The five observed variants were further screened in 1169 non-familial cancer patients as well as in 809 healthy population controls. The Trp149Stop was found at low frequencies (0.5-1.2%) in all patient subgroups versus 1.6% in controls, and the mutant allele did not co-segregate with disease status in families with multiple affected individuals. The CC genotype in the Cys148Arg variant was slightly more common among both familial and sporadic breast (odds ratio (OR), 1.48; 95% confidence interval (CI), 1.16-1.87; P=0.001) and prostate cancer patients (OR, 1.50; 95% CI, 1.13-1.99; P=0.005) when compared to controls. A novel ARLTS1 variant Gly65Val was found at higher frequency among familial prostate cancer patients (8 of 164, 4.9%) than in controls (13 of 809, 1.6%; OR, 3.14; 95% CI, 1.28-7.70, P=0.016). However, after adjusting for multiple testing, none of these results were still significant. No association was found with any of the variants and colorectal cancer risk. Our results suggest that Trp149Stop is not a predisposition allele in breast, prostate, or colorectal cancer in the Finnish population, and, while the Gly65Val variant may increase familial prostate cancer risk and the Cys148Arg change may affect both breast and prostate cancer risk, the evidence is not strong in these data.
|
|
| 2. |
- Smolander, Olli Pekka, et al.
(författare)
-
Improved chromosome-level genome assembly of the Glanville fritillary butterfly (Melitaea cinxia) integrating Pacific Biosciences long reads and a high-density linkage map
- 2022
-
Ingår i: GigaScience. - : Oxford University Press (OUP). - 2047-217X. ; 11
-
Tidskriftsartikel (refereegranskat)abstract
- Background: The Glanville fritillary (Melitaea cinxia) butterfly is a model system for metapopulation dynamics research in fragmented landscapes. Here, we provide a chromosome-level assembly of the butterfly's genome produced from Pacific Biosciences sequencing of a pool of males, combined with a linkage map from population crosses. Results: The final assembly size of 484 Mb is an increase of 94 Mb on the previously published genome. Estimation of the completeness of the genome with BUSCO indicates that the genome contains 92-94% of the BUSCO genes in complete and single copies. We predicted 14,810 genes using the MAKER pipeline and manually curated 1,232 of these gene models. Conclusions: The genome and its annotated gene models are a valuable resource for future comparative genomics, molecular biology, transcriptome, and genetics studies on this species.
|
|
| 3. |
|
|
| 4. |
- Torniainen, Suvi, et al.
(författare)
-
Lactase persistence, dietary intake of milk, and the risk for prostate cancer in Sweden and Finland.
- 2007
-
Ingår i: Cancer Epidemiol Biomarkers Prev. - Univ Helsinki, Dept Med Genet, Helsinki 00251, Finland. Univ Helsinki, Cent Hosp, Mol Genet Lab, FIN-00014 Helsinki, Finland. Karolinska Inst, Dept Med Epidemiol & Biostat, S-10401 Stockholm, Sweden. Tampere Univ Hosp, Res Unit, FIN-33521 Tampere, Finland. Tampere Univ Hosp, Dept Clin Chem, FIN-33521 Tampere, Finland. Tampere Univ Hosp, Inst Med Technol, Canc Genet Lab, FIN-33521 Tampere, Finland. Tampere Univ Hosp, Dept Urol, FIN-33521 Tampere, Finland. Univ Tampere, Sch Med, FIN-33101 Tampere, Finland. Univ Milan, Dept Stat, I-20122 Milan, Italy. Univ Umea Hosp, Dept Surg & Perioperat Sci Urol & Androl, S-90185 Umea, Sweden. : AMER ASSOC CANCER RESEARCH. - 1055-9965 .- 1538-7755. ; 16:5, s. 956-61
-
Tidskriftsartikel (refereegranskat)
|
|
