Sign up for Englemed updates from TwitterSign up for Englemed updates from Facebook
Contact Englemed
Our contact email address.
We can provide a specialist, tailored health and medical news service for your site.
Click here for more information
RSS graphic XML Graphic Add to Google
About Englemed news services - services and policies.
Englemed News Blog - Ten years and counting.
Diary of a reluctant allergy sufferer - How the British National Health Service deals with allergy.
BookshopFor books on women's health, healthy eating ideas, mental health issues, diabetes, etc click here

WWW Englemed
Copyright Notice. All reports, text and layout copyright Englemed Ltd, 52 Perry Avenue, Birmingham UK B42 2NE. Co Registered in England No 7053778 Some photos copyright Englemed Ltd, others may be used with permission of copyright owners.
Disclaimer: Englemed is a news service and does not provide health advice. Advice should be taken from a medical professional or appropriate health professional about any course of treatment or therapy.
Gene linked to ectopic pregnancy risk
Wed February 24th - Scientists have identified a gene which may be linked to the risk of ectopic pregnancy. More
Drug-resistant bacteria spread rapidly during travel
Wed February 24th - International travellers are a high risk for transmission of drug resistant bacteria, according to a study published today. More
On 09/10/2020 William Haworth wrote:
How long is recovery time after proceedure... on Ablation cuts atrial fibrillat...
On 08/02/2018 David Kelly wrote:
Would you like to write a piece about this to be i... on Researchers unveil new pain re...
On 23/10/2017 Cristina Pereira wrote: on HIV breakthrough - MRC...
On 12/09/2017 Aparna srikantam wrote:
Brilliant finding! indeed a break through in under... on Leprosy research breakthrough...
On 01/07/2017 Annetta wrote:
I have been diagnosed with COPD for over 12 years.... on Seaweed plan for antimicrobial...
guide to breast disorders guide to womb disorders guide to menopause Complete Women's Health: from The Royal College of Obstetricians and Gynaecologists For books and family gift ideas click here
RSS graphic XML Graphic

Breast cancer genetic variants identified

Tuesday March 1st, 2016

Five genetic variants that affect the risk of breast cancer and are linked to oestrogen receptors have been identified in an international study.

The findings suggest that a “Goldilocks” level of receptors is needed in breast cells, the researchers say - not too few and not too many.

The research, which involved almost 120,000 women, found the cancer-risk variants based within or around the DNA surrounding the gene for the oestrogen receptor, called the ESR1 gene.

Although this gene is known to be related to the risk and progress of breast cancer, it was not understood how it works and why it affects breast cancers.

The researchers studied ESR1 in women with different types of breast cancer and compared them with healthy controls.

The international collaboration, led by researchers at the University of Cambridge in England and the QIMR Berghofer Medical Research Institute, Brisbane, Australia, found that four of the variants were more strongly linked to tumours where the ESR1 gene is switched off.

The study, published in Nature Genetics is believed to be the first time a specific genetic risk factor for human epidermal growth factor 2 (HER2) has been linked to a rare type of breast tumour.

The QIMR Berghofer team, led by Dr Stacey Edwards said there are two major types of gene regulators: enhancers, which increase activity of the genes express, and silencers, which have the opposite effect.

However, when the Cambridge and Brisbane teams worked together, they discovered that four of the breast cancer risk variants coincided with the enhancers, affecting nearby genes and the ESR1 gene.

They report that the variants which increased the risk of breast cancer directly reduced the effectiveness of each enhancer, which in turn cut the amount of oestrogen receptor produced by breast cells.

The fifth genetic variant was found to associated more with tumours where the oestrogen receptor is switched on, which increases the amount of oestrogen receptor protein that are produced by breast cells.

Dr Alison Dunning from the Department of Oncology at the University of Cambridge, one of the lead authors, said: “It's interesting that all five of the genetic variants that we have found affect levels of oestrogen receptors in breast cells.

“This suggests that there may be a 'Goldilocks' level of these receptors in breast cells: too few or too many and the breast cells are more likely to become cancerous.”

Dr Edwards said the findings could pave the way for the development of new, more specific breast cancer preventions.

“As our research looks at how tumours with and without the oestrogen receptor are regulated, it's possible it could help make sense of the enduring mystery of how tamoxifen works and why tumours develop in these two divergent ways,” she added.

Dr Alan Worsley, Cancer Research UK's senior science information officer, said the study adds more detail to the genetic map of breast cancer risk.

“Understanding more about each individual's risk of cancer could help us find ways to potentially prevent the disease or pick it up in its earliest stages,” he added.

Dunning, AM et al. Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. Nature Genetics 29 February 2016; doi:10.1038/ng.3521

Tags: Australia | Cancer | Genetics | UK News | Women's Health & Gynaecology

Printer friendly page Printer friendly page

Comment on this article:

<a>,<b> & <p> tags allowed
Please enter the letters displayed:
(not case sensitive)