SULT1E1 and ID2 genes as candidates for inherited predisposition to breast and ovarian cancer in Jewish women.
Mutations in currently known genes account for only a subset of breast/ovarian cancer risk families. Three loci (2p, 4q, 22q) seemingly harbor breast cancer susceptibility genes. To explore their putative role in Jewish women, 46 affected women representing 22 high risk families were genotyped with D2S2211, D4S392, D22S278 and D22S283 and two flanking markers for each locus, and mutational analysis of ID2 (Chromosome 2) and SULT1E1 (Chromosome 4) genes was carried out in seemingly linked families. No ID2 gene mutations were detected in 8 women from the 4 families seemingly linked to D2S2211, whereas a missense mutation (His224Gln) in one affected woman from a single family was detected among 9 women from the 4 families linked to D4S392. This mutation was not found among 153 high risk, 98 sporadic breast/ovarian cancer patients, or 97 healthy controls. The SULT1E1 gene may need to be further explored as candidate breast cancer gene.
Cohen
Shimrit
S
Susanne Levy Gertner Oncogenetics Unit, Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
Laitman
Yael
Y
Kaufman
Bella
B
Milgrom
Roni
R
Nir
Uri
U
Friedman
Eitan
E
D000328:Adult; D017668:Age of Onset; D001943:Breast Neoplasms / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D005189:False Positive Reactions; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D019398:Genes, BRCA1 / Q000502:physiology; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D051797:Inhibitor of Differentiation Protein 2 / Q000235:genetics*; D007585:Jews / Q000235:genetics*; D008875:Middle Aged; D009367:Neoplasm Staging; D010051:Ovarian Neoplasms / Q000235:genetics*; D010375:Pedigree; D012307:Risk Factors; D015238:Sulfotransferases / Q000235:genetics*; D055815:Young Adult
C497450:ID2 protein, human; D051797:Inhibitor of Differentiation Protein 2; D015238:Sulfotransferases; C020122:estrone sulfotransferase