Neurofibromatosis type 1 (NF1) is autosomal dominant and it is the most common hereditary disease. This case report is about a woman and her daughter. Both of them are NF1 and mother also has metachronous bilateral breast carcinoma. We analyzed expressions of 84 genes related with DNA Repair by Real Time PCR (AB Applied Biosystem 7000 Sequence Detection System;
Thermo Fisher, Foster City, CA, USA). We also performed NF1 sequencing analyzing in exon 9 of the NF1 gene for mother. In Real Time PCR analysis of DNA Repair Genes, expression chances were predominant both in mother and daughter compared with control group. When the mother and daughter’s expression profiles were compared, similar DNA repair array gene expression profiles were observed and the expression of DDB2, MGMT, MLH1, POLB UNG, XPA genes were high in both mother and daughter.
In sequencing analysis, we obtained a mutation in c.1246 C>T. This mutation is reported to be common in NF1 cases with breast carcinoma. Our results indicate that the daughter with NF1 is probably prone to have malignancy in her future life. She should be carefully followed up for early diagnosis of a probable malignancy.
Keywords: Neurofibromatosis type 1, breast cancer, bilateral