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- Svensson, Sara, et al.
(författare)
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Merged testing for colorectal cancer syndromes and re-evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort
- 2022
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Ingår i: Genes Chromosomes & Cancer. - : Wiley. - 1045-2257 .- 1098-2264. ; 61:10, s. 585-591
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Tidskriftsartikel (refereegranskat)abstract
- Approximately 5% of patients with colorectal cancer (CRC) have a Mendelian predisposition for the disease. Identification of the disease-causing genetic variant enables carrier testing and tailored cancer prevention within affected families. To determine the panorama and genetic variation of Mendelian CRC syndromes among referrals at the cancer genetics clinics in Sweden, 850 patients clinically selected for CRC genetic investigation were included in a prospective study that tested for all major hereditary polyposis and nonpolyposis CRC conditions. Genetically defined syndromes were diagnosed in 11% of the patients. Lynch syndrome was predominant (n = 73) followed by familial adenomatous polyposis (n = 12) and MUTYH-associated polyposis (n = 8); the latter of which two patients presented with CRC before polyposis was evident. One patient with a history of adolescent-onset CRC and polyposis had biallelic disease-causing variants diagnostic for constitutional mismatch repair deficiency syndrome. Post-study review of detected variants of unknown clinical significance (n = 129) resulted in the reclassification of variants as likely benign (n = 59) or as diagnostic for Lynch syndrome (n = 2). Our results reveal the panorama of Mendelian CRC syndromes at the cancer genetics clinics in Sweden and show that unified testing for polyposis and nonpolyposis CRC conditions as well as regular reexamination of sequence data improve the diagnostic yield.
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- Faithfull, C. L., et al.
(författare)
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Restoring charophytes is still a challenge: A call for developing successful methods
- 2024
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Ingår i: AQUATIC BOTANY. - 0304-3770 .- 1879-1522. ; 193
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Tidskriftsartikel (refereegranskat)abstract
- Submerged aquatic vegetation, and especially charophytes, which are an important habitat for many species, have declined in the Baltic Sea due to changes in light climate, eutrophication and physical disturbance. Physical disturbance in the form of small-scale dredging activities is commonplace in Sweden due to land uplift, but causes fragmentation of coastal habitats. Here we test three planting methods for restoration of the charophyte Chara aspera on an area of deposited sediment, and a single method for restoration of C. tomentosa in a dredged area. We found that none of the planting methods tested was more successful than natural recolonization of C. aspera on the deposited sediment. C. tomentosa planting was unsuccessful in the dredged area and was likely outcompeted for light by taller species. The C. aspera meadow was resilient to smaller disturbances, as experimental removal of up to 2.5% of C. aspera and sediment from the donor area did not reduce C. aspera coverage a month after removal. Even after an uncontrolled event that removed up to 50% of C. aspera in the experimental plots, C. aspera coverage had returned to pre-removal levels a year after the disturbance. We suggest future restoration experiments test transplanting sediment rich in oocytes and bulbils into areas with suitable light climates and low competition with other species. Restoration efforts are costly and highly uncertain of success, therefore we recommend discontinuing dredging activities in charophyte meadows to protect this important habitat.
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