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Mutations in the BRCA1 gene in Japanese breast cancer patients

✍ Scribed by Toyomasa Katagiri; Mitsuru Emi; Isao Ito; Kanji Kobayashi; Masataka Yoshimoto; Takuji Iwase; Fujio Kasumi; Yoshio Miki; Mark H. Skolnick; Yusuke Nakamura

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 519 KB
Volume: 7
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1996)7:4<334::aid-humu7>3.0.co;2-8

No coin nor oath required. For personal study only.

✦ Synopsis

Predisposing germline mutations in the BRCAl gene were identified recently in families with 17qlinked breast and ovarian cancers. Using single-strand conformation polymorphism (SSCP) analysis, we examined primary breast cancers for mutations in coding exons of BRCAl in a panel of 103 patients, of whom all either represented early-onset cases (<35 of age), were members of multiplyaffected families, and/or had developed bilateral breast cancers. Mutations were detected in tumors from four patients, all of whom had developed breast cancers bilaterally: a frame-shift due to a 2-bp deletion at codon 797; a nonsense mutation at codon 1214; and two missense mutations, one at codon 27 1 leading to Val + Met substitution, and the other at codon 1150 leading to Pro --* Ser substitution. In each case the same mutation was present in constitutional DNA. The mean age of onset was 49 years among the Japanese carriers of BRCAl mutations identified in this study, in contrast to the mean age of 35 observed among carriers of BRCAl mutations in a similar U.S. study (Futreal et al., 1994). The evidence reported here supports a rather limited role of BRCAl in breast carcinogenesis.

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