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KMID : 0371320090760060388
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Journal of the Korean Surgical Society
2009 Volume.76 No. 6 p.388 ~ p.391
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Bilateral Metachronous Breast Cancer in Neurofibromatosis Type 1
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Kim Sun-Ho
Son Won-Jun
Shin Dong-Jun
Chang Myung-Chul
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Abstract
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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.
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KEYWORD
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Neurofibromatosis, Breast cancer
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