RGD Reference Report - CHEK2 variants predispose to benign, borderline and low-grade invasive ovarian tumors. - Rat Genome Database

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CHEK2 variants predispose to benign, borderline and low-grade invasive ovarian tumors.

Authors: Szymanska-Pasternak, J  Szymanska, A  Medrek, K  Imyanitov, EN  Cybulski, C  Gorski, B  Magnowski, P  Dziuba, I  Gugala, K  Debniak, B  Gozdz, S  Sokolenko, AP  Krylova, NY  Lobeiko, OS  Narod, SA  Lubinski, J 
Citation: Szymanska-Pasternak J, etal., Gynecol Oncol. 2006 Sep;102(3):429-31. Epub 2006 Jul 10.
RGD ID: 2298482
Pubmed: PMID:16828850   (View Abstract at PubMed)
DOI: DOI:10.1016/j.ygyno.2006.05.040   (Journal Full-text)

OBJECTIVE: Three founder alleles of the CHEK2 gene have been associated with predisposition to a range of cancer types in Poland. Two founder alleles (1100delC and IVS2 + 1G >A) result in a truncated CHEK2 protein and the other is a missense substitution, leading to the replacement of a threonine with an isoleucine (I157T). METHODS: To establish if these variants play a role in the etiology of ovarian tumors, we genotyped 1108 Polish women with various types of ovarian tumors and 4000 controls for the three CHEK2 variants. We included 539 Polish women with benign ovarian cystadenomas, 122 women with borderline ovarian malignancies and 447 women with invasive ovarian cancer. RESULTS: Positive associations were seen with the CHEK2 I157T missense variant and ovarian cystadenomas (OR = 1.7; P = 0.005), with borderline ovarian cancers (OR = 2.6; P = 0.002) and with low-grade invasive cancers (OR = 2.1; P = 0.04). There was no association with ovarian cancer of high grade (OR = 1.0). The association between the I157T missense variant was then confirmed in a second sample of Russian patients with borderline ovarian cancers (OR = 2.7; P = 0.06). CONCLUSION: These data indicate that CHEK2 variants may predispose to a range of ovarian tumor types of low malignant potential, but not to aggressive cancers.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Ovarian Neoplasms susceptibilityIAGP 2298482DNA:missense mutation:cds:p.I157TRGD 
Ovarian Neoplasms susceptibilityISOCHEK2 (Homo sapiens)2298482; 2298482DNA:missense mutation:cds:p.I157TRGD 

Objects Annotated

Genes (Rattus norvegicus)
Chek2  (checkpoint kinase 2)

Genes (Mus musculus)
Chek2  (checkpoint kinase 2)

Genes (Homo sapiens)
CHEK2  (checkpoint kinase 2)


Additional Information