Results
| PMID | 12568865 |
| Gene Name | BRCA1 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | BrCA1 (T3232A) |
| Population size | 7 |
| Population details | 7 women in two generations with familial endometriosis |
| Sex | Female |
| Associated genes | BrCA1, BrCA2, p53 |
| Other associated phenotypes |
Familial endometriosis |
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Fertil Steril. 2003 Feb;79(2):445-8. Goumenou, Anastasia G| Vassiliadis, Simon| Matalliotakis, Ioannis M| Koumantakis, Evgenios G| Lembessis, Panayiotis| Koutsilieris, Michael Department of Obstetrics and Gynecology, University of Crete, Heraklion, Greece. OBJECTIVE: To investigate possible correlation(s) between mutations of BrCA1, BrCA2, and p53 genes versus soluble HLA expression in familial endometriosis. DESIGN: Mutation analysis. SETTING: University teaching departments and hospital. PATIENT(S): A family with seven women in two generations with familial endometriosis. INTERVENTION(S): Mutation analysis of BrCA1, BrCA2, and p53 genes. MAIN OUTCOME MEASURE(S): A point mutation of the BrCA1 gene appears to inhibit soluble HLA secretion. RESULT(S): Among the three genes examined, only the BrCA1 gene showed a T to A mutation at position 3232 that correlates with total abolishment of both class I and class II antigen release. CONCLUSION(S): A possible correlation between a BrCA1 mutation and soluble HLA expression appears to exist. The mutation is not stage dependent and seemingly influences the secretion of both class I and class II antigens that are totally absent from the serum of only one family member. Mesh Terms: Aged| Aged, 80 and over| Base Sequence| DNA Mutational Analysis| DNA Primers| Endometriosis/*genetics| Exons| Female| *Genes, BRCA1| *Genes, BRCA2| *Genes, p53| Histocompatibility Antigens Class I/*genetics| Histocompatibility Antigens Class I |
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