jump to navigation

Founder BRCA1/2 mutations in the Europe #3 July 12, 2010

Posted by ramunas in BRCA, breast cancer, cancer genetics, genetic testing, ovarian cancer.
trackback

Fortunately, recent advances in high-throughput mutation detection and screening techniques, such as high resolution melting (HRM) analysis [24] and conformation-sensitive capillary electrophoresis (CSCE) [25] are especially promising rapid, sensitive, cost-efficient and ammenable for automation screening approaches for the large genes, whereas decreased cost in genotyping methods offers affordable targeted testing option for predefined set of mutations.

Massively parallel next-generation sequencing platforms [26] provide another technological breakthrough, however they are still at a prohibited cost and complex data overload for routine use.

On the other hand, variation in the distribution of BRCA1 and BRCA2 mutations is well recognized worldwide [27] and several recent reviews already summarized the evidence, that in certain countries and ethnic communities the BRCA1/2 mutation spectrum is limited to a few founder mutations [3, 4, 6, 28]. Founder effects are most prominent in geographically, culturally or religiously isolated populations that undergo rapid expansion from a limited number of ancestors, when, as a consequence of low genetic diversity, some alleles become more frequent.

Full review article: Janavicius R. Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control

TBC

Advertisements

Comments»

No comments yet — be the first.

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s

%d bloggers like this: