The 3020insC allele of NOD2 predisposes to early-onset breast cancer

Huzarski, Tomasz; Lener, Marcin; Domagała, W; Gronwald, Jacek; Byrski, Tomasz; Kurzawski, Grzegorz; Suchy, Janina; Chosia, Maria; Woytoń, J; Ucinski, Michal; Narod, Steven A.; Lubiński, Jan

doi:10.1007/s10549-004-1250-y

Cited by 44 publications

(42 citation statements)

References 12 publications

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“…In addition, Nod2 L1007fsinsC has been also associated with a growing number of malignant diseases, including early onset breast cancer [97], non-Hodgkin's lymphoma [98] and lung cancer [99]. The molecular mechanisms underlying these associations are still unclear.…”

Section: Discussionmentioning

confidence: 99%

The protein Nod2: An innate receptor more complex than previously assumed

Lecat

Piette

Legrand-Poels

2010

Biochemical Pharmacology

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Please check your proof carefully and mark all corrections at the appropriate place in the proof (e.g., by using on-screen annotation in the PDF file) or compile them in a separate list.For correction or revision of any artwork, please consult http://www.elsevier.com/artworkinstructions.Any queries or remarks that have arisen during the processing of your manuscript are listed below and highlighted by flags in the proof. Click on the 'Q' link to go to the location in the proof. Location inQuery / Remark: click on the Q link to go article Please insert your reply or correction at the corresponding line in the proof Q1If there are fewer than seven authors, please supply all their names; if there are seven or more authors, please supply the first six authors' names, followed by 'et al.'Thank you for your assistance. Graphical AbstractBiochemical Pharmacology xxx (2010) xxx-xxx pp: xxx-xxx The protein Nod2: An innate receptor more complex than previously assumed

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Section: Discussionmentioning

confidence: 99%

The protein Nod2: An innate receptor more complex than previously assumed

Lecat

Piette

Legrand-Poels

2010

Biochemical Pharmacology

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“…Recently we have reported that breast cancers in women with NOD2 mutations characteristically show foci of ductal carcinoma in situ [7].…”

Section: Discussionmentioning

confidence: 99%

Pathology of breast cancer in women with constitutional CHEK2 mutations

Huzarski

Cybulski

Domagała

et al. 2005

Breast Cancer Res Treat

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The power of association studies between polymorphic genetic variants and breast cancer may be enhanced if the cancer subjects are subclassified by histologic subgroup. In this study we classified 482 unselected breast cancers from Szczecin, Poland by histology (ductal, lobular, medullary, other). All women were genotyped for three founder mutations in the CHEK2 gene (1100delC, IVS2 + 1G > A and I157T). There was no significant overall association between CHEK2 and breast cancer (OR = 1.3; p = 0.30), but among those with lobular carcinoma the association with the I157T missense mutation was very strong (OR = 6.6; p > 0.0001). This is the first report to demonstrate that different mutations of the same gene may be associated with specific histologic subtypes of cancer.

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“…Many pathways and genes have been implicated in the process of breast cancer development. These include BRCA1, BRCA2, CHEK2, CDKN2A (p16), NOD2, and NBS1 (Lubinski et al 2004;Debniak et al 2005;Gorski et al 2005;Huzarski et al 2005). Recently Zhu et al (2005) have analysed 15 breast cancer samples for mtDNA mutations.…”

Section: Breast Cancermentioning

confidence: 99%

Mitochondrial DNA mutations in human neoplasia

2006

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Many models of tumour formation have been put forth so far. In general they involve mutations in at least three elements within the cell: oncogenes, tumour suppressors and regulators of telomere replication. Recently numerous mutations in mitochondria have been found in many tumours, whereas they were absent in normal tissues from the same individual. The presence of mutations, of course, does not prove that they play a causative role in development of neoplastic lesions and progression; however, the key role played by mitochondria in both apoptosis and generation of DNA-damaging reactive oxygen species might indicate that the observed mutations contribute to tumour development. Recent experiments with nude mice have proven that mtDNA mutations are indeed responsible for tumour growth and exacerbated ROS production. This review describes mtDNA mutations in main types of human neoplasia.

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The 3020insC allele of NOD2 predisposes to early-onset breast cancer

Cited by 44 publications

References 12 publications

The protein Nod2: An innate receptor more complex than previously assumed

The protein Nod2: An innate receptor more complex than previously assumed

Pathology of breast cancer in women with constitutional CHEK2 mutations

Mitochondrial DNA mutations in human neoplasia

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