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

Janni M. Jensen*, Anne Skakkebæk, Mette Gaustadness, Mette Sommerlund, Hans Gjørup, Ken Ljungmann, Charlotte K. Lautrup, Lone Sunde

*Kontaktforfatter

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

7 Citationer (Scopus)

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.

OriginalsprogEngelsk
TidsskriftFamilial Cancer
Vol/bind21
Udgave nummer3
Sider (fra-til)325-332
Antal sider8
ISSN1389-9600
DOI
StatusUdgivet - jul. 2022

Bibliografisk note

Publisher Copyright:
© 2021, The Author(s), under exclusive licence to Springer Nature B.V.

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