RGD Reference Report - Prevalence of the NOD2 3020insC mutation in aggregations of breast and lung cancer. - Rat Genome Database

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Prevalence of the NOD2 3020insC mutation in aggregations of breast and lung cancer.

Authors: Lener, MR  Oszutowska, D  Castaneda, J  Kurzawski, G  Suchy, J  Nej-Wolosiak, K  Byrski, T  Huzarski, T  Gronwald, J  Szymanska, A  Szymanska-Pasternak, J  Grodzki, T  Serwatowski, P  Bre Borowicz, G  Scott, RJ  Lubinski, J 
Citation: Lener MR, etal., Breast Cancer Res Treat. 2006 Jan;95(2):141-5.
RGD ID: 5131514
Pubmed: PMID:16267612   (View Abstract at PubMed)
DOI: DOI:10.1007/s10549-005-9057-z   (Journal Full-text)

Both breast and lung cancers are common malignancies and within the context of known genetic predispositions to breast cancer, no association has been made in linking the two diseases together. This does not exclude the possibility that such associations may exist that lie outside the known high-risk breast cancer families. To examine the likelihood of common genetic factors that could influence the risk of disease, two sets of consecutively collected tumor groups were examined for the 3020insC mutation in the NOD2/CARD15 gene. A total of 4107 consecutively collected breast cancer patients were assessed for the prevalence of the 3020insC mutation and compared to a consecutively collected series of 389 lung cancer patients and 2068 control samples. The results revealed that a proportion of breast cancer patients who had a first or a second degree relative diagnosed with lung cancer were more likely to harbour a change in NOD2/CARD15 compared to patients who had no relatives affected by lung cancer. Furthermore, this difference appeared to be specific to the breast and lung cancer subgroup since there was no difference in the frequency of the 3020insC allele in the consecutively collected lung cancer patients. In conclusion, it appears that the 3020insC mutation of the NOD2/CARD15 gene may be a genetic predisposing factor for aggregations of breast and lung cancer.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
breast cancer susceptibilityIAGP 5131514DNA:insertion: : 3020_3021insC (human)RGD 
breast cancer susceptibilityISONOD2 (Homo sapiens)5131514; 5131514DNA:insertion: : 3020_3021insC (human)RGD 
lung cancer susceptibilityIAGP 5131514DNA:insertion: : 3020_3021insC (human)RGD 
lung cancer susceptibilityISONOD2 (Homo sapiens)5131514; 5131514DNA:insertion: : 3020_3021insC (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Nod2  (nucleotide-binding oligomerization domain containing 2)

Genes (Mus musculus)
Nod2  (nucleotide-binding oligomerization domain containing 2)

Genes (Homo sapiens)
NOD2  (nucleotide binding oligomerization domain containing 2)


Additional Information