乳腺癌基因

所以我们芯片里没有BRCA1 和BRCA2的点？还是只有男性没有？。。。

但是，现在看上去，BRCA基因在中国人群里的突变情况跟在白种人群里面的突变情况还是有明显差异的。

转自 http://www.snpedia.com/index.php/BRCA1
 
BRCA1 is a human tumor suppressor gene. Like most genes, variations in the BRCA1 gene can be either causal for a given disease, or associated with somewhat higher risk, or benign.

However, "causal" does not mean that there is a 100% certainty that a person with such a variant will develop the disease. For individuals with causal BRCA1 variations, a good clinical summary provided by OMIM states the disease odds as[1]:

Mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age
Lifetime risk of breast cancer in mutation carriers is 80 to 90%
Lifetime risk of ovarian cancer in mutation carriers is 40 to 50%
Increased risk of bilateral breast cancer


There are over 500 BRCA1 variants that are considered causal, but almost all are very rare. It is estimated that all causal BRCA mutations combined occur in less than 1/3rd of 1% of people. Some of "slightly less rare" causal BRCA1 SNPs include:

185delAG BRCA1 i4000377 (II is normal; DD or DI are the mutations); dbSNP rs80357713 is probably the best representative; this is most prevalent in Ashkenazi Jews
5382insC BRCA1 i4000378 (DD is normal; II or DI are the mutations); rs76171189 or rs80357906 in dbSNP; also most prevalent in Ashkenazi Jews


Other causal BRCA1 mutations include:

rs28897696, known as A1708E, predicted to be highly linked & causative
rs55770810, known as R1699W, predicted to be linked & causative

对，男性女性的项目有一些差异，你可以改demo的个人设置是女性，然后刷新数据就能看到一些女性项目。
中华8芯片覆盖乳腺癌相关的snp位置不多，估计有2-30个snp。
其他家的描述应该还是snp本身，就是检查某个基因上的snp，而不是基因全长检查。基因全长检查就是检查相关基因上的所有位点信息，而不是特定的snp，这种检查目前的价格应该在3-5k左右。