Abstract:
:Our aim was to analyze the incidence of mutations in BRCA1 and BRCA2 genes in 54 families with breast/ovarian cancer. Families were selected from three Institutions following the standard criteria for hereditary breast/ovarian cancer. PCR amplification of all exons was performed, followed by SSCP, heteroduplex, PTT and sequencing analysis. We identified eight truncation mutations, three in the BRCA1 gene and five in the BRCA2 gene. Three of these mutations have not been reported previously by other groups: 308insA in one family, 3936 C>T in two families, for BRCA1, and 4970insTG in one family for BRCA2. In addition two families having Ashkenazi Jewish ancestors present the well known mutations 185delAG and 6174delT. Interestingly, 5 out of 11 families have mutations recurrent in Spanish families. Among the 54 families selected, seven have breast and ovary cancer cases, and only two presented a mutation in BRCA1 or BRCA2 genes. Other cancers as prostate and stomach are frequent among relatives carrying the mutation. Five cases of very early onset (<31 years old) breast cancer were detected. The frequencies of BRCA1 (0.074) and BRCA2 (0.13) mutations in our families is low but similar to the incidence found in other populations, like in Spain. Since is widely known that risk factors that modulate the development of breast cancer such as lifestyle risk factors, geographic location, country of origin and socioeconomic status, besides a familial history of breast cancer our findings suggest that the history of colonization and immigrations is very relevant when studying hereditary factors associated to breast cancer.
journal_name
Breast Cancer Res Treatjournal_title
Breast cancer research and treatmentauthors
Gallardo M,Silva A,Rubio L,Alvarez C,Torrealba C,Salinas M,Tapia T,Faundez P,Palma L,Riccio ME,Paredes H,Rodriguez M,Cruz A,Rousseau C,King MC,Camus M,Alvarez M,Carvallo Pdoi
10.1007/s10549-005-9047-1subject
Has Abstractpub_date
2006-01-01 00:00:00pages
81-7issue
1eissn
0167-6806issn
1573-7217journal_volume
95pub_type
杂志文章abstract::Tamoxifen is metabolized into endoxifen, a potent antagonist of the estrogen receptor, in part through cytochrome p450 (CYP) 2D6. Genotypic variation in CYP2D6 affects endoxifen levels, and some have argued that patients who do not efficiently metabolize tamoxifen might wish to consider alternative hormonal treatments...
journal_title:Breast cancer research and treatment
pub_type: 临床试验,杂志文章
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journal_title:Breast cancer research and treatment
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pub_type: 杂志文章,随机对照试验
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journal_title:Breast cancer research and treatment
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章
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journal_title:Breast cancer research and treatment
pub_type: 临床试验,杂志文章,随机对照试验
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更新日期:2001-05-01 00:00:00
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pub_type: 杂志文章
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更新日期:2006-11-01 00:00:00
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pub_type: 杂志文章
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-020-05992-w
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章,随机对照试验
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journal_title:Breast cancer research and treatment
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pub_type: 临床试验,杂志文章
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/BF00665947
更新日期:1995-03-01 00:00:00
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章,评审
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章
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更新日期:2014-06-01 00:00:00
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章
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更新日期:2009-03-01 00:00:00
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章,评审
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journal_title:Breast cancer research and treatment
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章,多中心研究,随机对照试验
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pub_type: 杂志文章
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更新日期:1983-01-01 00:00:00