RGD Reference Report - Common polymorphisms and somatic mutations in human base excision repair genes in ovarian and endometrial cancers. - Rat Genome Database

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Common polymorphisms and somatic mutations in human base excision repair genes in ovarian and endometrial cancers.

Authors: Pieretti, M  Khattar, NH  Smith, SA 
Citation: Pieretti M, etal., Mutat Res. 2001 Jan;432(3-4):53-9.
RGD ID: 2315878
Pubmed: PMID:11465542   (View Abstract at PubMed)

The purpose of this study was to determine whether the human APEX and OGG1 genes, encoding proteins important in base excision repair (BER) of DNA, contain nucleotide sequence polymorphisms or are mutated somatically in tumors from women diagnosed with ovarian or endometrial cancer. Based upon the analysis of germline DNA from 83 individuals, 63 with ovarian cancer and 20 with endometrial cancer, we found two missense polymorphisms in APEX (Q51H and D 148E) and two missense (A3P and S326C) and one intronic (Exon 5-15 bp) polymorphism in OGG1. The frequencies of the various alleles (in the ovarian and endometrial cancer patients combined) were 4.8% for 51-His and 56.2% for 148-Glu in APEX, and 1.0% for 3-Pro and 20.0% for 326-Cys in OGG1. Somatic mutations in APEX (P112L, W188X and R237C) were identified in three of 20 endometrial tumors, but no mutations were identified in APEX in 43 ovarian tumors, or in OGG1 at either tumor site. Given the crucial role of the APEX and OGG1 proteins in BER of oxidative DNA damage, the identified polymorphisms are good candidates for genetic epidemiologic studies of cancer susceptibility, while the finding that three of 20 (15%) endometrial tumors have somatic mutations in APEX suggests that inactivation of the BER pathway is important for the development of endometrial cancer in at least a subset of cases.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
endometrial cancer  IAGP 2315878DNA:nonsense mutation more ...RGD 
endometrial cancer  ISOAPEX1 (Homo sapiens)2315878; 2315878DNA:nonsense mutation more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Apex1  (apurinic/apyrimidinic endodeoxyribonuclease 1)

Genes (Mus musculus)
Apex1  (apurinic/apyrimidinic endonuclease 1)

Genes (Homo sapiens)
APEX1  (apurinic/apyrimidinic endodeoxyribonuclease 1)


Additional Information