ArticleFamilial cancer2016
Rapid detection of germline mutations for hereditary gastrointestinal polyposis/cancers using HaloPlex target enrichment and high-throughput sequencing technologies.
Article in Familial cancer, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 24 citations in OpenAlex.
- Predictive modeling for the germline pathogenic variant of the APC gene in patients with adenomatous polyposis: proposing a new APC score.Surgery today · 2025Article
- Sporadic gastric juvenile polyposis with a novel SMAD4 nonsense mutation in a mosaic pattern.Clinical journal of gastroenterology · 2024Article
- Genetic Testing of Japanese Patients with Serrated Polyposis Syndrome: A Multicentric Study.Journal of the anus, rectum and colon · 2024Article
- Clinical Guidelines for Diagnosis and Management of Juvenile Polyposis Syndrome in Children and Adults-Secondary Publication.Journal of the anus, rectum and colon · 2023Review
- Clinical features of biliary tract cancer in Japanese individuals with Lynch syndrome.Journal of gastrointestinal oncology · 2022Article
- APC germline variant analysis in the adenomatous polyposis phenotype in Japanese patients.International journal of clinical oncology · 2021Article
- Identification of Lynch syndrome-associated DNA mismatch repair-deficient bladder cancer in a Japanese hospital-based population.International journal of clinical oncology · 2021Article
- Prevalence and Molecular Characterization of Defective DNA Mismatch Repair in Small-bowel Carcinoma in a Japanese Hospital-based Population.Journal of the anus, rectum and colon · 2020Article
- Characteristics of MUTYH variants in Japanese colorectal polyposis patients.International journal of clinical oncology · 2018Article
- Prevalence and clinicopathologic/molecular characteristics of mismatch repair-deficient colorectal cancer in the under-50-year-old Japanese population.Surgery today · 2017Article
- Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations.Molecular genetics & genomic medicine · 2017Article
- MSI detection and its pitfalls in CMMRD syndrome in a family with a bi-allelic MLH1 mutation.Familial cancer · 2016Article
- Promotion Effects of Smoking in Polyp Development in Monozygotic Twins with Atypical Colorectal Polyposis.Case reports in gastroenterologyArticle
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic testing for hereditary colorectal polyposis/cancers has become increasingly important. Therefore, the development of a timesaving diagnostic platform is indispensable for clinical practice. We designed and validated target enrichment sequencing for 20 genes implicated in familial gastrointestinal polyposis/cancers in 32 cases with previously confirmed mutations using the HaloPlex enrichment system and MiSeq. We demonstrated that HaloPlex captured the targeted regions with a high efficiency (99.66 % for covered target regions, and 99.998 % for breadth of coverage), and MiSeq achieved a high sequencing accuracy (98.6 % for the concordant rate with SNP arrays). Using this approach, we correctly identified 33/33 (100 %) confirmed alterations including SNV, small INDELs and large deletions, and insertions in APC, BMPR1A, EPCAM, MLH1, MSH2, MSH6, PMS2, and SKT11. Our approach yielded the sequences of 20 target genes in a single experiment, and correctly identified all previously known mutations. Our results indicate that our approach successfully detected a wide range of genetic variations in a short turnaround time and with a small sample size for the rapid screening of known causative gene mutations of inherited colon cancer, such as familial adenomatous polyposis, Lynch syndrome, Peutz-Jeghers syndrome, and Juvenile polyposis syndrome.
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