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应用桑格测序和下一代测序技术筛查不明原因结直肠息肉病患者中嵌合和内含子 APC 变异。

Use of sanger and next-generation sequencing to screen for mosaic and intronic APC variants in unexplained colorectal polyposis patients.

机构信息

Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.

出版信息

Fam Cancer. 2022 Jan;21(1):79-83. doi: 10.1007/s10689-021-00236-2. Epub 2021 Mar 8.

DOI:10.1007/s10689-021-00236-2
PMID:33683519
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8799582/
Abstract

In addition to classic germline APC gene variants, APC mosaicism and deep intronic germline APC variants have also been reported to be causes of adenomatous polyposis. In this study, we investigated 80 unexplained colorectal polyposis patients without germline pathogenic variants in known polyposis predisposing genes to detect mosaic and deep intronic APC variants. All patients developed more than 50 colorectal polyps, with adenomas being predominantly observed. To detect APC mosaicism, we performed next-generation sequencing (NGS) in leukocyte DNA. Furthermore, using Sanger sequencing, the cohort was screened for the following previously reported deep intronic pathogenic germline APC variants: c.1408 + 731C > T, p.(Gly471Serfs55), c.1408 + 735A > T, p.(Gly471Serfs55), c.1408 + 729A > G, p.(Gly471Serfs55) and c.532-941G > A, p.(Phe178Argfs22). We did not detect mosaic or intronic APC variants in the screened unexplained colorectal polyposis patients. The results of this study indicate that the deep intronic APC variants investigated in this study are not a cause of colorectal polyposis in this Dutch population. In addition, NGS did not detect any further mosaic variants in our cohort.

摘要

除了经典的胚系 APC 基因突变外，APC 镶嵌性和深内含子胚系 APC 突变也被报道为腺瘤性息肉病的病因。在这项研究中，我们调查了 80 名无胚系致病性变异的不明原因结直肠息肉病患者，以检测镶嵌性和深内含子 APC 变异。所有患者均发展出超过 50 个结直肠息肉，主要观察到腺瘤。为了检测 APC 镶嵌性，我们在白细胞 DNA 中进行了下一代测序（NGS）。此外，通过 Sanger 测序，该队列被筛选了以下先前报道的深内含子致病性胚系 APC 变异：c.1408 + 731C > T，p.(Gly471Serfs55)，c.1408 + 735A > T，p.(Gly471Serfs55)，c.1408 + 729A > G，p.(Gly471Serfs55)和 c.532-941G > A，p.(Phe178Argfs22)。我们在筛查的不明原因结直肠息肉病患者中未检测到镶嵌性或内含子 APC 变异。本研究的结果表明，本研究中调查的深内含子 APC 变异不是荷兰人群结直肠息肉病的病因。此外，NGS 在我们的队列中未检测到任何其他镶嵌变体。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51ee/8799582/50423324ca01/10689_2021_236_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51ee/8799582/50423324ca01/10689_2021_236_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51ee/8799582/50423324ca01/10689_2021_236_Fig1_HTML.jpg

相似文献

[1]
Use of sanger and next-generation sequencing to screen for mosaic and intronic APC variants in unexplained colorectal polyposis patients.

Fam Cancer. 2022-1

[2]
Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer-Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis.

J Mol Diagn. 2021-11

[3]
Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases.

J Med Genet. 2016-3

[4]
Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis.

BMC Med Genomics. 2019-7-3

[5]
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients.

Eur J Hum Genet. 2018-1-24

[6]
Targeted next-generation sequencing approach for molecular genetic diagnosis of hereditary colorectal cancer: Identification of a novel single nucleotide germline insertion in adenomatous polyposis coli gene causes familial adenomatous polyposis.

Mol Genet Genomic Med. 2019-1

[7]
Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis.

Oncotarget. 2016-10-25

[8]
Distinct Patterns of Somatic Mosaicism in the APC Gene in Neoplasms From Patients With Unexplained Adenomatous Polyposis.

Gastroenterology. 2016-11-2

[9]
Detection of APC mosaicism by next-generation sequencing in an FAP patient.

J Hum Genet. 2015-5

[10]
Novel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis.

Gene. 2016-2-15

引用本文的文献

[1]
Genome sequencing-based discovery of a novel deep intronic APC pathogenic variant causing exonization.

Eur J Hum Genet. 2023-7

[2]
Nonmalignant Features Associated with Inherited Colorectal Cancer Syndromes-Clues for Diagnosis.

Cancers (Basel). 2022-1-26

本文引用的文献

[1]
Mosaicism in Patients With Colorectal Cancer or Polyposis Syndromes: A Systematic Review.

Clin Gastroenterol Hepatol. 2020-8

[2]
Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy.

Eur J Hum Genet. 2020-2

[3]
Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis.

BMC Med Genomics. 2019-7-3

[4]
Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps.

Mol Genet Genomic Med. 2019-4

[5]
Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.

Cancer Cell. 2019-2-11

[6]
Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition.

Genet Med. 2018-12-21

[7]
Two Czech patients with familial adenomatous polyposis presenting mosaicism in APC gene.

Neoplasma. 2018-12-12

[8]
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients.

Eur J Hum Genet. 2018-1-24

[9]
Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.

J Clin Oncol. 2017-4-1

[10]
Distinct Patterns of Somatic Mosaicism in the APC Gene in Neoplasms From Patients With Unexplained Adenomatous Polyposis.

Gastroenterology. 2016-11-2

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