Open AccessMultiplex Mutation Screening of the BRCA1 Gene in 1000 Japanese Breast Cancers
Author(s) -
Emi Mitsuru,
Matsushima Mieko,
Katagiri Toyomasa,
Yoshimoto Masataka,
Kasumi Fujio,
Yokota Takashi,
Nakata Tomoko,
Miki Yoshio,
Nakamura Yusuke
Publication year - 1998
Publication title -
japanese journal of cancer research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.035
H-Index - 141
eISSN - 1349-7006
pISSN - 0910-5050
DOI - 10.1111/j.1349-7006.1998.tb00472.x
Subject(s) - mutation , breast cancer , medicine , gene , genetics , oncology , cancer research , biology , cancer
To detect BRCA1 mutations in Japanese breast cancer patients, we screened 1,000 unselected primary cancers for mutations in exon 11, which accounts for 61% of the entire BRCA1 coding sequence. Using a method based on multiplex single‐strand conformational polymorphism (SSCP) analysis of multiple restriction fragments generated by restriction‐enzyme digestion of amplified DNA, we identified eight mutations. All eight were germline mutations; four of them were non‐sense mutations or small deletions resulting in premature stop codons, and the other four were missense mutations. The Japanese carriers of these mutant BRCA1 alleles had developed breast cancers at ages ranging from 45 to 62, five of them bilaterally.