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International Journal of Colorectal Disease

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01-04-2011 | Original Article

Lynch syndrome in Tunisia: first description of clinical features and germline mutations

Authors: Sana Aissi-Ben Moussa, Amel Moussa, Nadia Kourda, Amel Mezlini, Nabil Abdelli, Farid Zerimech, Taoufik Najjar, Sarah Ben Jilani, Nicole Porchet, Farhat Ben Ayed, Mohamed Manai, Marie-Pierre Buisine

Published in: International Journal of Colorectal Disease | Issue 4/2011

Abstract

Purpose

High rates of early colorectal cancers (CRC) are observed in Tunisia suggesting genetic susceptibility. Nevertheless, up to now, no molecular study has been performed in the Tunisian population. In our research, we evaluated the clinical characteristics of Tunisian families suspected of Lynch syndrome and the contribution of DNA mismatch repair (MMR) genes.

Methods

Thirty-one unrelated families suspected of Lynch syndrome were studied. Probands were tested for the presence of germline mutations in the MMR genes MLH1, MSH2, MSH6 and in MUTYH. Available tumours were analysed for microsatellite instability and expression of MMR proteins. Detailed family and medical histories were collected.

Results

A total of 134 cancers were noted in the 31 families, the most frequent type of cancer corresponding to CRC (69%), followed by uterine cancer (7.5%). Germline mutations were identified in 11 (35.5%) families (six MSH2, five MLH1, including seven novel mutations), seven of which fulfilled the Amsterdam criteria (sensitivity, 63.6%; positive predictive value, 58.3%). Noteworthy, germline mutations were detected in 52.6% of male patients tested, but in only 8.3% of females (p = 0.02). Moreover, CRC were essentially left sided in families without detected mutation (p = 0.017). Ages of onset of cancers and tumour spectrum were very similar in families with or without MMR germline mutation, contrasting with previous studies performed in other populations.

Conclusions

MMR genes contribute significantly to CRC susceptibility in the Tunisian population. However, the cause of early CRC susceptibility remains unknown in most cases, especially in women and in patients with early left colon or rectal cancer.

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Title: Lynch syndrome in Tunisia: first description of clinical features and germline mutations
Authors: Sana Aissi-Ben Moussa
Amel Moussa
Nadia Kourda
Amel Mezlini
Nabil Abdelli
Farid Zerimech
Taoufik Najjar
Sarah Ben Jilani
Nicole Porchet
Farhat Ben Ayed
Mohamed Manai
Marie-Pierre Buisine
Publication date: 01-04-2011
Publisher: Springer-Verlag
Published in: International Journal of Colorectal Disease / Issue 4/2011
Print ISSN: 0179-1958
Electronic ISSN: 1432-1262
DOI: https://doi.org/10.1007/s00384-010-1129-9

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Lynch syndrome in Tunisia: first description of clinical features and germline mutations

Abstract

Purpose

Methods

Results

Conclusions

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusions

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