Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 135-144 |
| Number of pages | 10 |
| Journal | Familial Cancer |
| Volume | 8 |
| Issue number | 2 |
| DOIs | |
| State | Published - Jun 2009 |
Bibliographical note
Funding Information:Acknowledgement This study was done in part as fulfillment for the degree of Master of Sciences by Shimrit Cohen at the Department of Life Sciences, Bar Ilan University. This study was in part funded by a grant from the Israel cancer association to Eitan Friedman.
Funding
Acknowledgement This study was done in part as fulfillment for the degree of Master of Sciences by Shimrit Cohen at the Department of Life Sciences, Bar Ilan University. This study was in part funded by a grant from the Israel cancer association to Eitan Friedman.
| Funders | Funder number |
|---|---|
| Israel Cancer Association |
Keywords
- Candidate genes
- Haplotype sharing
- ID2 gene
- Inherited predisposition to cancer
- SULT1E1 gene
