title: Prevalence of the NOD2 3020insC mutation in aggregations of breast and lung cancer.
abstract: 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.
authors.affiliation: International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland. marcinlener@poczta.onet.pl
authors.forename: Marcin Radosław
authors.initials: MR
authors.lastname: Lener
authors.forename: Dorota
authors.initials: D
authors.lastname: Oszutowska
authors.forename: Jennifer
authors.initials: J
authors.lastname: Castaneda
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Kurzawski
authors.forename: Janina
authors.initials: J
authors.lastname: Suchy
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Nej-Wołosiak
authors.forename: Tomasz
authors.initials: T
authors.lastname: Byrski
authors.forename: Tomasz
authors.initials: T
authors.lastname: Huzarski
authors.forename: Jacek
authors.initials: J
authors.lastname: Gronwald
authors.forename: Anna
authors.initials: A
authors.lastname: Szymańska
authors.forename: Jolanta
authors.initials: J
authors.lastname: Szymańska-Pasternak
authors.forename: Tomasz
authors.initials: T
authors.lastname: Grodzki
authors.forename: Piotr
authors.initials: P
authors.lastname: Serwatowski
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Bre Borowicz
authors.forename: Rodney J
authors.initials: RJ
authors.lastname: Scott
authors.forename: Jan
authors.initials: J
authors.lastname: Lubiński
mesh_terms: D017668:Age of Onset; D000483:Alleles; D001943:Breast Neoplasms / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008175:Lung Neoplasms / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D053473:Nod2 Signaling Adaptor Protein; D015995:Prevalence
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein