Faster genetic testing method will likely transform care for patients with breast cancer

March 27, 2014, Wiley

Faster and cheaper DNA sequencing techniques will likely improve care for patients with breast cancer but also create challenges for clinicians as they counsel patients on their treatment options. Those are among the conclusions of a study published recently in the BJS (British Journal of Surgery). The findings provide insights into how genetic advances will soon be affecting patient care.

When a woman is diagnosed with breast cancer, it's important to know as much about her tumour as possible to determine the best treatment. Most cases of breast cancer are sporadic, but a minority are hereditary and caused by one or more mutations in genes such as BRCA1 or BRCA2. To find such genetic mutations in newly diagnosed , researchers must sequence the woman's DNA, which is generally a relatively slow process that generates results weeks or months after patients have started treatment. Next generation sequencing (NGS) is a newer method of sequencing DNA that processes large amounts of data. It's faster and more expensive than conventional sequencing, but in recent years it has become cheaper and more widely accessible by rapid advances in computing power. With the use of NGS, which will soon become the mainstay of clinical genetics, breast cancer units will likely be able to get the results of genetic testing before patients begin their .

In a collaboration between and medical geneticists at the Norfolk & Norwich University Hospital and Addenbrooke's Hospital in Cambridge, UK, Simon Pilgrim, MD, and his colleagues searched the medical literature to identify relevant studies relating to breast cancer genetics and then looked to see what impact NGS will have on breast cancer units as well as what opportunities will arise for improving treatment for patients.

The researchers found that because NGS will allow breast cancer clinicians to know whether patients carry high-risk mutations (which might increase their risk of developing another breast cancer in the same or other breast in the future) before the start of treatment, more women might opt for mastectomy instead of breast-conserving surgery or for double rather than single mastectomy. Dr Pilgrim noted that some of the mutations that are detected might also confer increased risks of developing other cancers, which would indicate the need to monitor at-risk patients closely for these cancers as well. "The converse is also true," he said. "NGS can be used to find in people with other hereditary cancers or conditions. For example, a woman with ovarian cancer might be found to have a BRCA1 mutation, and hence breast units must be prepared to handle questions about the management of breast cancer risk in patients referred by other specialties." Dr Pilgrim added that NGS will have implications for the relatives of people found to have mutations linked to breast or other cancers, and therefore family members may also wish to undergo testing after appropriate counseling.

In the longer term, being able to identify patients with breast cancer who carry certain gene mutations before they start treatment will help researchers conduct clinical trials to establish which treatments are best for carriers of particular . Dr Pilgrim noted that research already suggests that BRCA1-associated is more responsive to certain chemotherapy drugs than sporadic breast cancers are.

Explore further: Study ties breast gene to high-risk uterine cancer

More information: "Opportunities and challenges of next-generation DNA sequencing for breast units." S. M. Pilgrim, S. Pain, and M. Tischkowitz. BJS; Published Online: March 27th, 2014 DOI: 10.1002/bjs.9458

Related Stories

Study ties breast gene to high-risk uterine cancer

March 24, 2014
Women with a faulty breast cancer gene might face a greater chance of rare but deadly uterine tumors despite having their ovaries removed to lower their main cancer risks, doctors are reporting.

BROCA sequencing approach evaluates all 24 genes implicated in breast cancer

October 24, 2013
Since 1994, many thousands of women with breast cancer from families severely affected with the disease have been tested for inherited mutations in BRCA1 and BRCA2. The vast majority of those patients were told that their ...

Women with breast cancer gene mutation more likely to survive cancer after double mastectomy

February 11, 2014
Women who carry a mutation on the BRCA breast cancer gene - and are diagnosed with early stage breast cancer - are significantly less likely to die if they undergo a double mastectomy than those who have only one breast removed, ...

Mutations of immune system found in breast cancers

November 18, 2013
Mutations in the genes that defend the body against cancer-related viruses and other infections may play a larger role in breast cancer than previously thought, according to a study at the University of Illinois at Chicago.

Breast cancer prognosis associated with oncometabolite accumulation

December 9, 2013
The metabolic profile of cancer cells can be used to develop therapies and identify biomarkers associated with cancer outcome. In this issue of the Journal of Clinical Investigation Stefan Ambs and colleagues at the National ...

Team issues state-of-the-state on genetic-based testing and treatment for breast cancer

March 24, 2014
Dartmouth researchers at its Norris Cotton Cancer Center have compiled a review of the role that information gathered through genetic testing plays in the diagnosis and treatment of breast cancer. The paper entitled "Personalized ...

Recommended for you

Drug may help surgical patients stop opioids sooner

December 13, 2017
(HealthDay)—Opioid painkillers after surgery can be the first step toward addiction for some patients. But a common drug might cut the amount of narcotics that patients need, a new study finds.

Children best placed to explain facts of surgery to patients, say experts

December 13, 2017
Getting children to design patient information leaflets may improve patient understanding before they have surgery, finds an article in the Christmas issue of The BMJ.

Burn victim saved by skin grafts from identical twin (Update)

November 23, 2017
A man doomed to die after suffering burns across 95 percent of his body was saved by skin transplants from his identical twin in a world-first operation, French doctors said Thursday.

Is a common shoulder surgery useless?

November 21, 2017
(HealthDay)—New research casts doubt on the true effectiveness of a common type of surgery used to ease shoulder pain.

Study shows electric bandages can fight biofilm infection, antimicrobial resistance

November 6, 2017
Researchers at The Ohio State University Wexner Medical Center have shown - for the first time - that special bandages using weak electric fields to disrupt bacterial biofilm infection can prevent infections, combat antibiotic ...

Obesity increases incidence, severity, costs of knee dislocations

November 3, 2017
A new study of more than 19,000 knee dislocation cases in the U.S. between 2000 and 2012 provides a painful indication of how the nation's obesity epidemic is changing the risk, severity and cost of a traumatic injury.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.