![]() Four heterozygous carriers were patients with bilateral breast cancer. One splice-site mutation (IVS10-6T→G) was detected three times in our series. ![]() Among these patients we identified seven (8.5%) ATM germline mutations, of which five are distinct. The 82 patients included in this study had developed breast cancer at age <45 and had survived ⩾5 years (mean 15 years), and in 33 (40%) of the patients a contralateral breast tumor had been diagnosed. A high percentage of ATM germline mutations was demonstrated among patients with sporadic breast cancer. We have analyzed ATM germline mutations in normal blood lymphocytes, using the protein-truncation test followed by genomic-sequence analysis. In view of this discrepancy, we examined the frequency of ATM germline mutations in a selected group of Dutch patients with breast cancer. The finding that ATM-heterozygotes have an increased relative risk for breast cancer was supported by some studies but not confirmed by others. ![]() Mutations in the ATM gene are responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T) (MIM 208900). Approximately 0.5%–1% of the general population has been estimated to be heterozygous for a germline mutation in the ATM gene.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |