RGD Reference Report - Allelic imbalance in chromosome band 18q21 and SMAD4 mutations in ovarian cancers. - Rat Genome Database

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Allelic imbalance in chromosome band 18q21 and SMAD4 mutations in ovarian cancers.

Authors: Takakura, S  Okamoto, A  Saito, M  Yasuhara, T  Shinozaki, H  Isonishi, S  Yoshimura, T  Ohtake, Y  Ochiai, K  Tanaka, T 
Citation: Takakura S, etal., Genes Chromosomes Cancer. 1999 Mar;24(3):264-71.
RGD ID: 2299976
Pubmed: PMID:10451707   (View Abstract at PubMed)

Recently, three candidate tumor suppressor genes, SMAD2 (MADR2/JV18-1), SMAD4 (DPC4), and DCC, were identified in chromosome band 18q21. We examined allelic imbalance (AI) in 18q21 using six polymorphic microsatellite markers in 38 primary ovarian cancers and four ovarian borderline tumors. AI at one or more loci was detected in 15 of 37 (41%) informative ovarian cancers and in none of the four borderline tumors. Frequent AI was detected at the D18S46 (31%) and D18S474 (36%) loci, which were adjacent to the SMAD4 gene, and at the D18S69 (33%) locus, which was telomeric to the DCC gene. Therefore, we searched for mutations of the SMAD4 gene in 42 primary tumors and eight cell lines by PCR-SSCP and sequencing analyses. Missense mutations were detected in two ovarian tumors and three ovarian cancer cell lines, whereas silent mutation was detected in a primary ovarian cancer. These results suggest that there are at least two tumor suppressor genes on chromosome arm 18q and that SMAD4 is of importance in ovarian tumorigenesis.

RGD Manual Disease Annotations    Click to see Annotation Detail View

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
SMAD4Humanovarian cancer  IAGP DNA:missense mutationRGD 
Smad4Ratovarian cancer  ISOSMAD4 (Homo sapiens)DNA:missense mutationRGD 
Smad4Mouseovarian cancer  ISOSMAD4 (Homo sapiens)DNA:missense mutationRGD 

Objects Annotated

Genes (Rattus norvegicus)
Smad4  (SMAD family member 4)

Genes (Mus musculus)
Smad4  (SMAD family member 4)

Genes (Homo sapiens)
SMAD4  (SMAD family member 4)

Additional Information