Bilateral Metachronous Breast Cancer in Neurofibromatosis Type 1.
10.4174/jkss.2009.76.6.388
- Author:
Sun Ho KIM
1
;
Won Jun SON
;
Dong Jun SIN
;
Myung Chul CHANG
Author Information
1. Department of Surgery, Dankook University College of Medicine, Cheonan, Korea. changmc@dankook.ac.kr
- Publication Type:Case Report
- Keywords:
Neurofibromatosis;
Breast cancer
- MeSH:
Breast;
Breast Neoplasms;
Cafe-au-Lait Spots;
Exons;
Female;
Genes, BRCA1;
Hamartoma;
Humans;
Incidence;
Iris;
Melanosis;
Middle Aged;
Neurofibroma;
Neurofibromatoses;
Neurofibromatosis 1
- From:Journal of the Korean Surgical Society
2009;76(6):388-391
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease, characterized by cafe-au-lait spot, axillary and inguinal freckle, peripheral neurofibroma and pigmented iris hamartoma. The various cancer incidences are increased in the NF1. But NF1 with breast cancer is rare. In this report we present a case of a 46-year-old NF1 female with a bilateral metachronous breast cancer. The patient has no BRCA2 mutation, but there are two unclassified variants in the exon 11 of BRCA1. The possibility of LOH of BRCA1 gene in the cancer tissue cannot be excluded.
