The 3020insC Allele of NOD2 Predisposes to Cancers of Multiple Organs

Lubiński, Jan; Huzarski, Tomasz; Kurzawski, Grzegorz; Suchy, Janina; Masojć, Bartłomiej; Mierzejewski, Marek; Lener, Marcin; Domagała, W; Chosia, Maria; Teodorczyk, Urszula; Mędrek, Krzysztof; Dębniak, Tadeusz; Złowocka, Elżbieta; Gronwald, Jacek; Byrski, Tomasz; Grabowska, Ewa; Nej, Katarzyna; Szymańska, Anna; Szymańska, Jolanta; Matyjasik, Joanna; Cybulski, Cezary; Jakubowska, Anna; Górski, Bohdan; Narod, Steven A.

doi:10.1186/1897-4287-3-2-59

Cited by 25 publications

(43 citation statements)

References 25 publications

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“…In several recent studies, it has been shown that at least one relatively common mutation in an inflammatory response regulator NOD2/ CARD15 is associated with an increased risk of malignancy of the bowel and the breast [5][6][7]. The same mutation has been reported to be one of the possible lung cancer genes [8]. The NOD2/CARD15 gene was initially identified as a Crohn's disease risk factor since biallelic mutations of the gene were shown to confer a $30-fold risk of Crohn's disease and a $3-fold risk if heterozygous compared to individuals not harboring changes in this gene [9,10].…”

Section: Introductionmentioning

confidence: 97%

“…Since common mutations in the NOD2/CARD15 gene have already been associated with an increased odds ratio of developing cancers of the bowel or breast, and with the increased incidence of malignancy in Crohn's disease and an overall increase in malignancies at other sites including breast, lung, larynx and ovary [8], we reasoned that there may be common genetic factors associated with breast cancer patients who reported cases of lung cancer within their families. To investigate the possibility that NOD2/CARD15 may be associated with at least a proportion of breast and lung cancer families, an investigation into 4107 consecutively collected breast cancer patients and 389 consecutively collected lung cancer patients was undertaken and the results compared to 2068 control samples.…”

Section: Introductionmentioning

confidence: 98%

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

Lener

Oszutowska

Castañeda

et al. 2005

Breast Cancer Res Treat

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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.

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Section: Introductionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 98%

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

Lener

Oszutowska

Castañeda

et al. 2005

Breast Cancer Res Treat

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“…A second genetic factor that has been linked to breast cancer risk is NOD2 [8] which has also been associated with an increased risk of lung cancer and a suggestion that it is also associated with laryngeal cancer risk [9]. In particular, the NOD2 3020insC polymorphism seems to be associated with an approximate 2-fold increased susceptibility to early-onset breast cancer and laryngeal cancer [8,9].…”

Section: Introductionmentioning

confidence: 98%

“…In particular, the NOD2 3020insC polymorphism seems to be associated with an approximate 2-fold increased susceptibility to early-onset breast cancer and laryngeal cancer [8,9].…”

Section: Introductionmentioning

confidence: 98%

Association between early-onset breast and laryngeal cancers

Jaworowska

Masojć

Tarnowska

et al. 2005

Breast Cancer Res Treat

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Recent studies suggest that there are groups of genes that predispose simultaneously to both early-onset breast and laryngeal cancer. Studies were performed on a large series of unselected patients with laryngeal cancer diagnosed in Szczecin, Poland. Pedigrees of 683 laryngeal cancer patients were analysed for the frequency of early-onset and late-onset breast cancer among first degree relatives. The observed frequencies of breast cancer in these families were compared to those expected. In addition, common mutations/variants in the 3 genes BRCA1, NOD2 and CYP1B1, known to be associated with early-onset breast cancer, were assessed to determine their frequency in 348 unselected laryngeal cancers. The average age at diagnosis of LC among patients, who had relatives affected by BC diagnosed under the age of 50 years was 57.62. In comparison LC patients reporting a first degree relative affected by BC diagnosed above 50 years of age, had an average age of diagnosis of 66.00 years, which was significantly different (p=0.0064). Similarly, the average age of diagnosis of BC among patients with LC diagnosed under age of 50 years was 46.7 years and whereas LC patients with tumors diagnosed above 50 years had relatives diagnosed with breast cancer at an average age of 53.37 years, which was significantly different (p=0.02). From the 348 consecutive ascertained laryngeal cancer patients who had molecular studies undertaken, breast cancers among first degree relatives were found in 18 families including 8 with breast cancers diagnosed less than 50 years of age. A molecular basis was identified (the CYP1B1 355T/T genotype) in only 2 of the 8 early cases suggestive of there being additional, as yet unknown genes that are associated with an early-onset laryngeal-breast cancer phenotype.

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“…Statistic v 2 = 9.220; p = 0.010 Lubiński et al reported that NOD2 gene is associated with an increased risk of colon cancer and the presence of the NOD2 3020insC allele increases the lifetime risk of cancer by approximately 25-35 %. They also found that presence of the NOD2 3020insC allele increase the risk of lung cancer by 1.7 times compared to control [26].…”

Section: Discussionmentioning

confidence: 93%