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AXIN2 变异导致的家族性结直肠癌和牙齿缺失：我们如何检测具有罕见癌症易感性综合征的家族？

Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?

机构信息

Department of Clinical Genetics, Aalborg University Hospital, Ladegaardsgade 5,5, 9000, Aalborg, Denmark.

Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.

出版信息

Fam Cancer. 2022 Jul;21(3):325-332. doi: 10.1007/s10689-021-00280-y. Epub 2021 Oct 12.

DOI:10.1007/s10689-021-00280-y
PMID:34637023
Abstract

We present a three-generation family with an AXIN2 variant and a family history of colorectal cancer (CRC), colon polyps and tooth agenesis. A likely pathogenic variant was detected in the AXIN2 gene (c.1994dup; p.(Asn666Glnfs*41)). This variant has previously been associated with tooth agenesis and polyposis, only. In this case report we describe eight carriers with tooth agenesis and variable clinical findings, including polyps and CRC. Our case provides additional knowledge to the sparse data on genotype-phenotype association related to AXIN2 associated cancer syndrome. Further, our case highlights the importance of analysing an extended CRC and oligodontia/ectodermal dysplasia gene panel including AXIN2 but also raises awareness and discussion about appropriate surveillance program.

摘要

我们报告了一个三代家系，该家系携带 AXIN2 变异，并有结直肠癌（CRC）、结肠息肉和牙齿缺失的家族史。在 AXIN2 基因中检测到一个可能的致病性变异（c.1994dup;p.(Asn666Glnfs*41)）。该变异之前与牙齿缺失和息肉病有关，但与 CRC 无关。在本病例报告中，我们描述了 8 名携带该变异的患者，他们有牙齿缺失和不同的临床表现，包括息肉和 CRC。我们的病例为 AXIN2 相关癌症综合征的基因型-表型相关性提供了更多的稀疏数据，此外，我们的病例还强调了分析包括 AXIN2 在内的扩展 CRC 和少牙症/外胚层发育不良基因谱的重要性，但也提高了对适当监测计划的认识和讨论。

相似文献

[1]
Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?

Fam Cancer. 2022-7

[2]
Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene.

Fam Cancer. 2019-7

[3]
Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer.

Fam Cancer. 2022-10

[4]
AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature.

Mol Genet Genomic Med. 2023-6

[5]
Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer.

Am J Hum Genet. 2004-5

[6]
AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.

Genes Chromosomes Cancer. 2023-4

[7]
Tooth agenesis: A susceptible indicator for colorectal cancer?

J Cancer Res Ther. 2018

[8]
Axis inhibition protein 2 (AXIN2) polymorphisms and tooth agenesis.

Arch Oral Biol. 2009-1

[9]
Functional analysis of a novel missense mutation in AXIN2 associated with non-syndromic tooth agenesis.

Eur J Oral Sci. 2016-6

[10]
Mutations in AXIN2 gene as a risk factor for tooth agenesis and cancer: A review.

Neuro Endocrinol Lett. 2017-7

引用本文的文献

[1]
Main genetic entities associated with tooth agenesis.

Clin Oral Investig. 2024-12-11

[2]
Congenital Tooth Agenesis and Risk of Early-Onset Cancer.

JAMA Netw Open. 2024-3-4

[3]
Genomic and epigenomic basis of breast invasive lobular carcinomas lacking CDH1 genetic alterations.

NPJ Precis Oncol. 2024-2-12

[4]
A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia.

Hered Cancer Clin Pract. 2023-8-25

[5]
AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.

Genes Chromosomes Cancer. 2023-4

[6]
The Profile of Articles on Mutations, Oligodontia, and Ethical Statements in Dental Research.

J Empir Res Hum Res Ethics. 2022-10

[7]
Nonmalignant Features Associated with Inherited Colorectal Cancer Syndromes-Clues for Diagnosis.

Cancers (Basel). 2022-1-26

本文引用的文献

[1]
Case report expanding the germline AXIN2- related phenotype to include olfactory neuroblastoma and gastric adenoma.

BMC Med Genet. 2020-8-17

[2]
An American patient with polyposis carrying a Scandinavian pathogenic variant.

Hered Cancer Clin Pract. 2020-7-30

[3]
The Association Between Gene Polymorphisms and the Risk of Breast Cancer in Chinese Women.

Genet Test Mol Biomarkers. 2019-6

[4]
Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene.

Fam Cancer. 2019-7

[5]
Mutations in AXIN2 gene as a risk factor for tooth agenesis and cancer: A review.

Neuro Endocrinol Lett. 2017-7

[6]
Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome.

Clin Genet. 2017-3-22

[7]
Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.

J Mol Diagn. 2017-1

[8]
Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.

Fam Cancer. 2017-4

[9]
A Novel AXIN2 Missense Mutation Is Associated with Non-Syndromic Oligodontia.

PLoS One. 2015-9-25

[10]
Novel missense mutations in the AXIN2 gene associated with non-syndromic oligodontia.

Arch Oral Biol. 2014-3

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