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Japanese Journal of Clinical Oncology 31:349-351 (2001)
© 2001 Foundation for Promotion of Cancer Research

Germline p53 Mutation in a Patient with Multiple Primary Cancers

Kenji Kimura1,2, Kazuya Shinmura1, Tadashi Hasegawa3, Yasuo Beppu4, Ryohei Yokoyama4 and Jun Yokota1,+

1Biology and 3Pathology Divisions, National Cancer Center Research Institute, Tokyo, 4Orthopedic Division, National Cancer Center Hospital, Tokyo and 2Department of Orthopedic Surgery, Chiba University, Chiba, Japan

We report a case of multiple primary cancers having a germline missense mutation of the p53 gene. The patient was a Japanese female and had a history of five different types of cancers. PCR/direct sequencing analysis revealed the presence of a nucleotide substitution, AGC (Ser) to AGG (Arg), at codon 106 of the p53 gene in DNA from non-cancerous breast tissue. This is the first case of germline p53 mutation at codon 106, and could contribute to establishing correlations between the types and locations of germline p53 mutations and their phenotypical consequences.

+ For reprints and all correspondence: Jun Yokota, Biology Division, National Cancer Center Research Institute, 1–1, Tsukiji 5-chome, Chuo-ku, Tokyo 104-0045, Japan


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