Risk of Cancer in CdLS

Risk of Cancer in CdLS

There is no increased risk of cancer at a young age in CdLS in comparison to the general population. It is unclear whether there is an increased risk of cancer for middle-aged and older individuals with CdLS. Cancer of the oesophagus has been reported in three individuals with CdLS who had Barrett’s oesophagus. This can be caused by Gastro-oesophageal reflux disease (GORD) which is common in CdLS. GORD is a condition in which a weakness in the muscles above the stomach allows stomach acid to travel into the oesophagus. Over many years, stomach acid can cause changes in cells lining the oesophagus. This is called Barrett’s oesophagus. These abnormal cells are at increased risk of becoming cancerous.

Women with CdLS should be offered cervical and breast cancer screening according to national guidelines for the general population (⁷⁷,⁷⁸) (R25, R26).

Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam

_{Adapted from: Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P.F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F. J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J. P., Menke, L. A., Metrena, A., O’Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C. J., Quaglio, A. L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I. D. C. and Hennekam, R. C. (2018).}

Source:

Diagnosis and management in Cornelia de Lange Syndrome: First international consensus statement. Nature Reviews Genetics, 19, 649-666, published on 11 Juli 2018

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Zuletzt geändert von Gerritjan Koekkoek am 2022/09/29 16:10

Erstellt von Gerritjan Koekkoek am 2019/03/27 15:09