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Biallelic germline ...
Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition
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- Olkinuora, A. (författare)
- University of Helsinki
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- Nieminen, T. T. (författare)
- Ohio State University,University of Helsinki
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- Mårtensson, Emma (författare)
- University of Gothenburg,Gothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine,Region Skåne
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- Rohlin, Anna (författare)
- University of Gothenburg,Gothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine,Sahlgrenska University Hospital
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- Ristimaki, A. (författare)
- Helsinki University Central Hospital,University of Helsinki
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- Koskenvuo, L. (författare)
- Helsinki University Central Hospital
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- Lepisto, A. (författare)
- Helsinki University Central Hospital
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- Gebre-Medhin, Samuel (författare)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine
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- Nordling, Margareta, 1962 (författare)
- University of Gothenburg,Gothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine,Sahlgrenska University Hospital
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- Peltomaki, P. (författare)
- University of Helsinki
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(creator_code:org_t)
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- Elsevier BV, 2019
- 2019
- Engelska.
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Ingår i: Genetics in Medicine. - : Elsevier BV. - 1098-3600. ; 21:8, s. 1868-1873
- Relaterad länk:
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https://www.nature.c...
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http://dx.doi.org/10...
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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https://lup.lub.lu.s...
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- NATURVETENSKAP -- Biologi -- Genetik (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- biallelic germline variant
- MLH3
- polyposis
- DNA mismatch repair
- hereditary
- cancer
- mutations
- hmlh3
- msh3
- Genetics & Heredity
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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Olkinuora, A.
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Nieminen, T. T.
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Mårtensson, Emma
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Rohlin, Anna
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Ristimaki, A.
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Koskenvuo, L.
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Lepisto, A.
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Gebre-Medhin, Sa ...
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Nordling, Margar ...
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Peltomaki, P.
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- Om ämnet
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- NATURVETENSKAP
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NATURVETENSKAP
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och Biologi
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och Genetik
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Medicinska och f ...
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och Medicinsk geneti ...
- Artiklar i publikationen
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Genetics in Medi ...
- Av lärosätet
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Göteborgs universitet
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Lunds universitet