Mutation analysis of BrCA1, BrCA2, and p53 versus soluble HLA class I and class II in a case of familial endometriosis

Goumenou AG, Anastasia G. Goumenou, Vassiliadis S, Simon Vassiliadis, S. Vassiliadis, Ioannis Matalliotakis, Ioannis M Matalliotakis, Matalliotakis IM, Koumantakis EG, Evgenios G Koumantakis, Peter Lembessis, Panayiotis Lembessis, Koutsilieris M, Michael Koutsilieris
Fertility and sterility · 2003 · vol. 79(2) , pp. 445–448 · doi:10.1016/s0015-0282(02)04665-4 · PMID:12568865 · W1994741987
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This study analyzed mutations in BRCA1, BRCA2, and p53 genes alongside soluble HLA class I and class II levels in a familial case of endometriosis.

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Abstract

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.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Genes, BRCA1 Genes, BRCA1 Genes, BRCA2 Genes, BRCA2 Genes, p53 Genes, p53 Histocompatibility Antigens Class I Histocompatibility Antigens Class II Point Mutation Point Mutation Aged Aged Aged, 80 and over Aged, 80 and over Base Sequence Base Sequence DNA Mutational Analysis DNA Mutational Analysis DNA Primers

Citation neighborhood (2-hop)

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. Outer rings show 2-hop neighbours — papers reached through the immediate citers/citees. [ collapse to 1-hop ]

References (18)

Cited by (7)

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