Abstract
The frameshift NOD2 gene mutation 3020insC is predominantly associated with Crohn's disease, but predisposes to many types of common cancers as well. We studied the frequency of this mutant NOD2 allele in 148 breast cancer women from the Bydgoszcz region in Poland. The NOD2 mutation was present in 8.8% of the patients. The mean age at breast cancer diagnosis of the mutation carriers was 43 years. We did not find any mutation in patients diagnosed with breast cancer after the age of 50 years. There was no association of the NOD2 mutation with a strong family history of breast cancer. On the contrary, the mutation frequency (11.4%) was two times higher in women from families with a single case of breast cancer and with aggregation of other common types of cancer, especially digestive tract cancers. Low risk of breast cancer in the mutation carriers seems to be confirmed by finding the 3020insC mutation in three healthy parents of probands aged 73, 74 and 83 years, from three separate families.
Highlights
The NOD2 gene has been identified and mapped to chromosome 16q12 by Hugot and coworkers [1]
In this report we present our preliminary data of the NOD2 3020insC allele study in women from the Bydgoszcz region, diagnosed with breast cancer
The NOD2 3020insC allele is relatively common (7.3%) in the Polish population [7]. It has been reported in 8.0% of 462 breast cancer patients from Szczecin [8]
Summary
The NOD2 gene has been identified and mapped to chromosome 16q12 by Hugot and coworkers [1]. It consists of 12 exons and its product, a cytosolic protein, consists of 1,040 amino acids. A cytosine insertion in exon 11 causes a frameshift mutation and, as a consequence, amino acid substitution at position 1007 (Leu1007fsinsC) of the NOD2 protein. This provokes premature termination of protein synthesis, with a loss of the last 33 amino acids [3]
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