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

被引:0
|
作者
Janni M. Jensen
Anne Skakkebæk
Mette Gaustadness
Mette Sommerlund
Hans Gjørup
Ken Ljungmann
Charlotte K. Lautrup
Lone Sunde
机构
[1] Aalborg University Hospital,Department of Clinical Genetics
[2] Aarhus University Hospital,Department of Clinical Genetics
[3] Aarhus University Hospital,Department of Molecular Medicine
[4] Aarhus University Hospital,Department of Dermatology
[5] Resource Centre for Oral Health in Rare Medical Conditions,Department of Oral and Maxillofacial Surgery
[6] Aarhus University Hospital,Department of Surgery
[7] Aarhus University Hospital,undefined
[8] Institute of Biomedicine,undefined
[9] Aarhus University,undefined
来源
Familial Cancer | 2022年 / 21卷
关键词
Colorectal cancer; Colon polyps; Oligodontia; Tooth agenesis;
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学科分类号
摘要
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.
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页码:325 / 332
页数:7
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