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【medical-news】BRIP1基因突变导致乳腺癌发病风险翻

Mutation In BRIP1 Gene Doubles Breast Cancer Risk
Main Category: Breast Cancer News
Article Date: 09 Oct 2006 - 8:00am (PDT)
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Cancer / OncologyWomen's Health / OBGYNGenetics




Women are at twice the risk of developing breast cancer if they have a mutation in the BRIP1 gene, compared to women who don't have the mutation, say researchers from the United Kingdom.

You can read about this new study in the journal Nature Genetics.

As the BRIP1 mutation is relatively uncommon, it is unlikely to play a major role in breast cancer risk generally, say the researchers. Mutations more commonly found in the BRCA1 and BRCA2 genes play a greater role breast cancer risk for women in general. According to recent research, the following gene mutations can raise breast cancer risk:

-- BRIP1 - Doubles breast cancer risk (by age 60)
-- BRCA1- Raises risk ten to twentyfold (by age 60)
-- BRCA21- Raises risk ten to twentyfold (by age 60)
-- TP531- Raises risk ten to twentyfold (by age 60)
-- CHEK2 - Raises risk moderately (by age 60)
-- ATM - Raises risk moderately (by age 60)

In this study 1,200 female breast cancer patients were screened for mutations in the BRIP1 gene. All volunteers had a family history of breast cancer and/or ovarian cancer. 900 healthy women were also screened. The scientists found that of the volunteers with breast cancer, 9 had mutations in the BRIP1 gene, compared to 2 in the healthy group.

As BRIP1 mutations are uncommon, it is unlikely a woman with BRIP1 mutations on one breast also has them on the other breast.

Even though this new discovery applies to a rare mutation, it helps breast cancer researcher find out exactly how many gene mutations are linked to breast cancer risk.

"Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles"
Sheila Seal, Deborah Thompson, Anthony Renwick, Anna Elliott, Patrick Kelly, Rita Barfoot, Tasnim Chagtai, Hiran Jayatilake, Munaza Ahmed, Katarina Spanova, Bernard North, Lesley McGuffog, D Gareth Evans, Diana Eccles, The Breast Cancer Susceptibility Collaboration (UK), Douglas F Easton, Michael R Stratton1, 5 & Nazneen Rahman
Nature Genetics doi:10.1038/ng1902
Click here to view abstract online

Written by: Christian Nordqvist
Editor: Medical News Today http://www.dxy.cn/bbs/post/view?bid=116&id=7222253&sty=1&tpg=2&age=0 [标签:content1][标签:content2]

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作者:admin@医学,生命科学    2011-01-05 17:14
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