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Sökning: WFRF:(Lepisto A) > Lunds universitet

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1.
  • Olkinuora, A., et al. (författare)
  • Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition
  • 2019
  • Ingår i: Genetics in Medicine. - : Elsevier BV. - 1098-3600. ; 21:8, s. 1868-1873
  • Tidskriftsartikel (refereegranskat)abstract
    • Purpose: Some 10% of familial adenomatous polyposis (FAP) and 80% of attenuated polyposis (AFAP) cases remain molecularly unexplained. We scrutinized such cases by exome-wide and targeted methods to search for novel susceptibility genes. Methods: Exome sequencing was conducted on 40 unexplained (mainly sporadic) cases with FAP or AFAP from Finland. The DNA mismatch repair (MMR) gene MLH3 (MutL Homolog 3) was pinpointed and prompted a subsequent screen of similar to 1000 Swedish patients referred to clinical panel sequencing for colon tumor susceptibility. Results: Three homozygous carriers of a truncating variant in MLH3, c.3563C>G, p.Ser1188Ter, were identified among the index cases from the Finnish series. An additional biallelic carrier of the same variant was present in the Swedish series. All four patients shared a 0.8-Mb core haplotype around MLH3, suggesting a founder variant. Colorectal polyps from variant carriers showed no instability at mono-, di-, tri-, or tetranucleotide repeats, in agreement with previous findings of a minor role of MLH3 in MMR. Multiple loci were affected by loss of heterozygosity, suggesting chromosomal instability. Conclusion: Our results show that a biallelic nonsense variant of MLH3 underlies a novel syndrome with susceptibility to classical or attenuated adenomatous polyposis and possibly extracolonic tumors, including breast cancer.
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3.
  • Bengtsson, Lars, et al. (författare)
  • Particle movement of melt water in a subdrained agricultural basin
  • 1992
  • Ingår i: Journal of Hydrology. - 0022-1694. ; 135:1-4, s. 383-398
  • Tidskriftsartikel (refereegranskat)abstract
    • The pathways of melt water from a subdrained agricultural basin in southern Finland were investigated using oxygen-18 as tracer and measuring subdrainage water and total basin runoff. The flow paths for the melt water to reach the subdrains were through cracks in the ploughed layer and through regular spaced vertical sand-gravel drains. As long as the top soil was frozen a major part of the water that reached the agricultural basin outlet was snowmelt water. The basin runoff during the melt period 27 March- 1 3 April totalled 86 mm of which 20% was overland flow.
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