所以我們芯片里沒有BRCA1 和BRCA2的點？還是只有男性沒有？。。。

但是，現(xiàn)在看上去，BRCA基因在中國人群里的突變情況跟在白種人群里面的突變情況還是有明顯差異的。

轉自?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

對，男性女性的項目有一些差異，你可以改demo的個人設置是女性，然后刷新數(shù)據(jù)就能看到一些女性項目。
中華8芯片覆蓋乳腺癌相關的snp位置不多，估計有2-30個snp。
其他家的描述應該還是snp本身，就是檢查某個基因上的snp，而不是基因全長檢查?；蛉L檢查就是檢查相關基因上的所有位點信息，而不是特定的snp，這種檢查目前的價格應該在3-5k左右。