Association of CYP19 polymorphisms with breast cancer risk: A case-control study.

Background: The CYP19 gene is located on chromosome 15 and it plays an important role in aromatization, which results in production of estrogen from androgens. The mutation in this gene can result in either increased or decreased aromatase activity.

Materials And Methods: A case-control study was designed to compare 250 breast cancer cases with 250 age-matched healthy controls.

Germline mutations of TP53 gene in breast cancer.

Germline alterations of the TP53 gene encoding the p53 protein have been observed in the majority of families with the Li-Fraumeni syndrome, a rare dominantly inherited disorder with breast cancer. Genomic DNA samples of 182 breast cancer cases and 186 controls were sequenced for TP53 mutations in the exon 5-9 and intervening introns 5, 7-9. Direct sequencing was done using Applied Biosystem 3730 DNA analyzer.