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.
Original language | English |
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Journal | Familial Cancer |
Volume | 21 |
Issue number | 3 |
Pages (from-to) | 325-332 |
Number of pages | 8 |
ISSN | 1389-9600 |
DOIs | |
Publication status | Published - Jul 2022 |
Bibliographical note
Publisher Copyright:© 2021, The Author(s), under exclusive licence to Springer Nature B.V.
Keywords
- AXIN2
- Colon polyps
- Colorectal cancer
- Oligodontia
- Tooth agenesis