Boobies – 560 Breast Cancer Cases

A lab in the UK sequences the genomes of 560 different breast cancer tumors and has published a list of genes that, if mutated, could cause tumor growth. I’m sure there are other papers out there like this, but who has time to read? This one caught my eye on BBC this morning.

The list consists of 93 genes. They give the information in a simple figure:


Ok, maybe it isn’t SO simple. I do have the slight advantage of reading scientific papers, albeit I should read more of them for work. Let’s ignore Part A. There is a better figure for that, below. Part B lists the 93 genes that can play a part in breast cancer development. They’ve told us which genes are estrogen receptor positive (ER +) and which ones are negative… important if your doctor wants to treat your breast cancer with hormone therapy. If the genes mutated in your breast cancer are ER+, that means they are fed by estrogen in your body. Hormone therapy to reduce/remove estrogen could reduce or even eliminate your breast cancer. If the genes mutated in your breast cancer are ER-, hormone therapy won’t help eliminate the cancer.

The figure below shows the frequency of different types of mutations in the tumors as well as the chromosomes involved. I love it! I love that I can finally just look at a chromosome map and see where breast cancer mutations most likely occur.


The Ven diagram (ooooh, look at the pretty colors!) breaks down the ER+ and ER- into numerical data. It also shows how many HER2 mutations they came across and classified them into ER+ and ER-. An early breast cancer drug discovery showed that if HER2 is mutated, it could be treated with Herceptin. This diagram shows that of the 73 HER2 mutations they found, 27 of them will not respond to Herceptin treatment (because they are ER -). Neat, huh?

They saw substitutions, rearrangments and inserts and deletions (indels) in the DNA sequences that are not normal and put them in an easy-to-read pie chart. Mmmm, pie charts. Sixth grade math. Yummy!

Now can someone tell me why HER2 is not on the list of 93 genes??

It’s because HER2 is also known as ERBB2. Why? I don’t know. But the figures in this paper are still sexy.

Nik-Zainal, S., Davies, H., Staaf, J., Ramakrishna, M., Glodzik, D., Zou, X., et al. (2016). Landscape of somatic mutations in 560 breast cancer whole-genome sequences, advance online publication SP – EP . doi:10.1038/nature17676


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