1. BRCA1 and BRCA2 protein expressions in an ovotestis of a 46, XX true hermaphrodite.
- Author
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Bernard-Gallon DJ, Déchelotte P, Vissac C, Aunoble B, Cravello L, Malpuech G, and Bignon YJ
- Subjects
- BRCA2 Protein, Disorders of Sex Development pathology, Female, Humans, Immunoenzyme Techniques, Infant, Male, Ovary abnormalities, Testis abnormalities, BRCA1 Protein metabolism, Disorders of Sex Development metabolism, Neoplasm Proteins metabolism, Ovary metabolism, Sex Chromosome Aberrations metabolism, Testis metabolism, Transcription Factors metabolism, X Chromosome
- Abstract
BRCA1 and BRCA2 breast cancer susceptibility genes encode proteins, the normal cellular functions of which are complex and multiple, and germ-line mutations in individuals predispose both to breast and to ovarian cancer. There is nevertheless substantial evidence linking BRCA1 and BRCA2 to homologous recombination and DNA repair, to transcriptional control and to tissue proliferation. There is controversy regarding the localization of BRCA1 and BRCA2 proteins to either nucleus or cytoplasm and whether the expression is present in premeiotic germ cells or can still be expressed in mitotic spermatogonia. We report herein an immunohistochemical study of BRCA1 and BRCA2 distribution in a rather unusual tissue (an ovotestis), which addresses this issue.
- Published
- 2001
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