ArticleDigestive diseases and sciences2014
Exome sequencing revealed novel germline mutations in Chinese Peutz-Jeghers syndrome patients.
Article in Digestive diseases and sciences, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 15 citations in OpenAlex.
- The Progress of Colorectal Polyposis Syndrome in Chinese Population.Clinics in colon and rectal surgery · 2023Review
- Peutz-Jeghers Syndrome Manifested as Multiple Polyps in Jejunum With Intussusception.Journal of medical cases · 2022Article
- Implications of Splicing Alterations in the Onset and Phenotypic Variability of a Family with Subclinical Manifestation of Peutz-Jeghers Syndrome: Bioinformatic and Molecular Evidence.International journal of molecular sciences · 2020Article
- Distinct promoter methylation patterns of LKB1 in the hamartomatous polyps of Peutz-Jeghers syndrome and its potential in gastrointestinal malignancy prediction.Orphanet journal of rare diseases · 2020Article
- Clinical and Histologic Overlap and Distinction Among Various Hamartomatous Polyposis Syndromes.Clinical and translational gastroenterology · 2019Article
- Correlation between genotype and phenotype in three families with Peutz-Jeghers Syndrome.Experimental and therapeutic medicine · 2017Article
- Molecular approach to genetic and epigenetic pathogenesis of early-onset colorectal cancer.World journal of gastrointestinal oncology · 2016Review
- The ubiquitin ligase RNF43 downregulation increases membrane expression of frizzled receptor in pancreatic ductal adenocarcinoma.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2016Article
- Clinical characteristics and STK11 gene mutations in Chinese children with Peutz-Jeghers syndrome.BMC gastroenterology · 2015Article
- Novel and recurrent mutations of STK11 gene in six Chinese cases with Peutz-Jeghers syndrome.Digestive diseases and sciences · 2014Article
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
aimsPeutz-Jeghers Syndrome (PJS) is an autosomal dominant disorder which predisposes to the development of various cancers. Germline mutation in the serine/threonine kinase 11 gene (STK11) is known as one of the major causes of PJS. However, a notable proportion of PJS samples do not carry any mutation in STK11, suggesting possible genetic heterogeneity in the disease and the existence of other causative variants. METHODS AND
resultsIn order to identify other germline variants in the coding regions of the genome that are associated with PJS, we performed exome sequencing in three Chinese individuals with PJS and identified 16 common germline variants (12 protein-coding including STK11, 4 in pre-microRNAs). We further validated protein-coding variants in six PJS individuals (three with wild-type STK11) and predicted the functional impact. As result, we found that 7 coding variants are likely to have functional impacts. Especially, we identified 2 new germline variants which are represented in all six PJS samples and are independent of STK11 mutation.
conclusionsOur study provided an exomic view of PJS. The germline variants identified in our analysis may help to resolve the complex genetic background of the disease and thus lead to the discovery of novel causative variants of PJS.
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