Susa Enholm
University of Helsinki
6 Papers
195 Citations
Susa Enholm is an academic researcher from University of Helsinki. The author has contributed to research in topics: MUTYH & Population. The author has an hindex of 5, co-authored 6 publications.
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Papers
Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients.
Susa Enholm,Tuija Hienonen,Anu Suomalainen,Lara Lipton,Ian Tomlinson,Vesa Kärjä,Matti Eskelinen,Jukka-Pekka Mecklin,Auli Karhu,Heikki Järvinen,Lauri A. Aaltonen +10 more
TL;DR: Y165C and G382D variants were not present in 424 Finnish cancer-free controls showing that MYH mutations are not enriched in the population, and MYH-associated colorectal cancer appears to be as common as coloreCTal cancer associated with familial adenomatous polyposis.
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A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants
Evropi Theodoratou,Harry Campbell,Albert Tenesa,Richard S. Houlston,Emily L. Webb,Steven J. Lubbe,Peter Broderick,S. Gallinger,E. M. Croitoru,Mark A. Jenkins,Aung Ko Win,Sean P. Cleary,Thibaud Koessler,Paul D.P. Pharoah,Sébastien Küry,Stéphane Bézieau,Bruno Buecher,Nathan A. Ellis,Paolo Peterlongo,Kenneth Offit,Lauri A. Aaltonen,Susa Enholm,Annika Lindblom,Xiaoying Zhou,Ian Tomlinson,Victor Moreno,Ignacio Blanco,Gabriel Capellá,Rebecca A. Barnetson,Mary Porteous,Malcolm G. Dunlop,Susan M. Farrington +31 more
TL;DR: A large collaborative meta-analysis of published and unpublished datasets submitted refines estimates of disease risk associated with mono-allelic and bi-alle Alic MUTYH carriers and investigates age and sex influence on risk.
The C/C −13910 genotype of adult-type hypolactasia is associated with an increased risk of colorectal cancer in the Finnish population
Heli Rasinperä,Carol Forsblom,Nabil Enattah,P. Halonen,K. Salo,M. Victorzon,Mecklin Jp,Heikki Järvinen,Susa Enholm,Gabrielle S. Sellick,Hafid Alazzouzi,Richard S. Houlston,James P. Robinson,Per-Henrik Groop,Ian Tomlinson,Simó Schwartz,Lauri A. Aaltonen,Irma Järvelä +17 more
TL;DR: Low lactase enzyme activity, defined by genotyping of the C/T−13910 variant, may increase the risk of colorectal cancer.
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A Novel Functionally Deficient MYH Variant in Individuals With Colorectal Adenomatous Polyposis
Pia Alhopuro,Antony R. Parker,Rainer Lehtonen,Susa Enholm,Heikki Järvinen,Jukka-Pekka Mecklin,Auli Karhu,James R. Eshleman,Lauri A. Aaltonen +8 more
TL;DR: Screening of mutations in MYH exon 14 should be added to the molecular analysis at‐risk individuals, supporting a key role for the codon 459 in MyH function.
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Mutations in Two Short Noncoding Mononucleotide Repeats in Most Microsatellite-Unstable Colorectal Cancers
Tuija Hienonen,Heli Sammalkorpi,Susa Enholm,Pia Alhopuro,Thomas D. Barber,Rainer Lehtonen,Nina N. Nupponen,Heli J. Lehtonen,Reijo Salovaara,Jukka-Pekka Mecklin,Heikki Järvinen,Riitta Koistinen,Diego Arango,Virpi Launonen,Bert Vogelstein,Auli Karhu,Lauri A. Aaltonen +16 more
TL;DR: It is indicated that high mutation frequencies, similar or higher than those observed in proposed and approved target genes, can be detected in repeat tracts of MSI tumors without any apparent selection pressure.
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