title: Mutation analysis of BrCA1, BrCA2, and p53 versus soluble HLA class I and class II in a case of familial endometriosis.
abstract: OBJECTIVE
  To investigate possible correlation(s) between mutations of BrCA1, BrCA2, and p53 genes versus soluble HLA expression in familial endometriosis.
  
  
  METHODS
  Mutation analysis.
  
  
  METHODS
  University teaching departments and hospital.
  
  
  METHODS
  A family with seven women in two generations with familial endometriosis.
  
  
  METHODS
  Mutation analysis of BrCA1, BrCA2, and p53 genes.
  
  
  METHODS
  A point mutation of the BrCA1 gene appears to inhibit soluble HLA secretion.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Obstetrics and Gynecology, University of Crete, Heraklion, Greece.
authors.forename: Anastasia G
authors.initials: AG
authors.lastname: Goumenou
authors.forename: Simon
authors.initials: S
authors.lastname: Vassiliadis
authors.forename: Ioannis M
authors.initials: IM
authors.lastname: Matalliotakis
authors.forename: Evgenios G
authors.initials: EG
authors.lastname: Koumantakis
authors.forename: Panayiotis
authors.initials: P
authors.lastname: Lembessis
authors.forename: Michael
authors.initials: M
authors.lastname: Koutsilieris
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D004252:DNA Mutational Analysis; D017931:DNA Primers; D004715:Endometriosis / Q000235:genetics*; D005091:Exons; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D016158:Genes, p53; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D000949:Histocompatibility Antigens Class II / Q000235:genetics*; D006801:Humans; D008285:Major Histocompatibility Complex; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; D015395:Histocompatibility Antigens Class I; D000949:Histocompatibility Antigens Class II