BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations
Copyright policy )BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations
We analyzed the mutation spectrum of BRCA1 and BRCA2 genes in 354 Korean breast cancer patients. Overall, 40 patients carried 25 distinct BRCA1/2 mutations including 12 novel mutations. Seven district mutations were found in multiple unrelated patients, with the BRCA2 c.7480C>T mutation detected in eight unrelated patients, accounting for 50% of the mutations detected in BRCA2. The large number (25/40, 62.5%) of recurrent mutations suggests the possibility of developing a simple screening test for these mutations. The frequency of mutations was related to the number and kinds of risk factors, varying from 10.4 to 25% in the five major risk factor groups. The frequency of BRCA mutations in patients with two or more risk factors was markedly higher than that in patients with one risk factor.
- Seoul National University Korea (Republic of)
- CHA University Korea (Republic of)
- Sungkyul University Korea (Republic of)
- Seoul National University Hospital Korea (Republic of)
- Asan Medical Center Korea (Republic of)
BRCA2 Protein, Heterozygote, Korea, BRCA1 Protein, DNA Mutational Analysis, Breast Neoplasms, Cohort Studies, Open Reading Frames, Gene Frequency, Risk Factors, Humans, Female, Germ-Line Mutation
BRCA2 Protein, Heterozygote, Korea, BRCA1 Protein, DNA Mutational Analysis, Breast Neoplasms, Cohort Studies, Open Reading Frames, Gene Frequency, Risk Factors, Humans, Female, Germ-Line Mutation
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).54 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 10% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 10% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Top 10%
Citations provided by BIP!Popularity provided by BIP!