[PTEN/MMAC1 is apparently not a relevant tumor suppressor gene in development of hereditary breast carcinoma].
In order to clarify the role of the recently discovered tumour suppressor gene PTEN/MMAC1 in hereditary breast cancer, we screened the DNA from members of 10 families with demonstrated hereditary breast cancer for mutations through direct sequencing. Since we could not find any relevant alterations, although further investigations are necessary, PTEN/MMAC1 seems not to play a relevant role in the genesis of hereditary breast cancer.
D001943:Breast Neoplasms / Q000235:genetics*; D002471:Cell Transformation, Neoplastic / Q000235:genetics; D002879:Chromosomes, Human, Pair 10; D004252:DNA Mutational Analysis; D005260:Female; D016153:Genes, Suppressor; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D051059:PTEN Phosphohydrolase; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D011237:Predictive Value of Tests; D025521:Tumor Suppressor Proteins / Q000235:genetics*
D025521:Tumor Suppressor Proteins; D010744:Phosphoric Monoester Hydrolases; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human