Immunotherapy treatment option for selected breast cancer patients, genetic study suggestsSeptember 13, 2017
Immunotherapy drugs could help some breast cancer patients based on the genetic changes in their tumours, researchers at the Wellcome Trust Sanger Institute and their collaborators find. Published today (13 September) in Cancer Research, scientists identify particular genetic changes in a DNA repair mechanism in breast cancer.
The results open up the possibility to another therapy option for around 1,000 breast cancer patients in the UK, who could benefit from existing drugs.
Breast cancer is the most common cancer in the UK, affecting nearly 55,000 women a year. Globally it accounts for nearly 1.7 million cancer cases.
In the study, scientists found that a particular group of breast cancer patients have genetic changes, or mutations, that occur because of an abnormality of a DNA repair mechanism known as mismatch repair*. These mutations are found in other cancers, such as colorectal cancer, but are rarely looked for in breast cancer.
Colorectal cancers with deficient mismatch repair have recently been treated with immunotherapies called checkpoint inhibitors in the US**, including the drug pembrolizumab. Immunotherapies exploit the fact that, under the influence of check point inhibitors, highly mutated tumour cells can be recognised as 'foreign' by the patient's immune system.
The results of this new study suggest that these immunotherapies could also be effective for some breast cancer patients based on the same mutation patterns seen in their tumours. Therefore clinical trials are required to determine if immunotherapies could help selected breast cancer patients.
In the study, the team analysed the whole genome sequences of 640 breast cancer tumours. They looked for patterns in the mutations, known as mutational signatures, which indicated abnormalities in the mismatch repair mechanism. From the mutational signatures, the team identified 11 tumours that had the mismatch repair defects causing the breast cancer.
Dr Serena Nik-Zainal, lead author from the Wellcome Trust Sanger Institute, said: "We've unequivocally found mismatch repair deficient breast cancers. As these tumours have the same mutational signatures as those of other cancers, like colorectal cancer, they should in theory respond to the same immunotherapy drugs. Our results suggest expanding the cohort of cancer patients that could possibly be treated with checkpoint inhibitors to include these mismatch repair deficient breast cancer patients."
Dr Helen Davies, first author from the Wellcome Trust Sanger Institute, said: "Using whole genome sequencing we can start to stratify breast cancer patients into different categories based on their mutational signatures. Current clinical criteria means these tumours would not have been detected as being deficient in the mismatch repair pathway. We have shown that there is in fact another category of breast cancers - those with defective mismatch repair."
Professor Karen Vousden, Cancer Research UK's chief scientist, said: "Immunotherapies have shown promise for some cancer patients, but the challenge for doctors has been predicting which patients they are likely to help. This study, using a technique called whole genome sequencing, reveals more about the genetic patterns that could show which women with breast cancer are more likely to respond to immunotherapy treatments. The next step will be to test this approach in clinical trials to find out if identifying these patterns and using them to tailor breast cancer treatments helps to improve survival."
What is mismatch repair deficiency?
*The DNA mismatch repair pathway is a mechanism for recognising and repairing mistakes in the genetic code that arise during DNA replication and recombination. It also repairs some forms of DNA damage. When cells lack the mismatch repair pathway, there is a build-up of mutations. These mutations result in cancerous tumours forming.
What is immunotherapy?
Immunotherapy is a type of cancer treatment that boosts the body's natural defences, or immune system, to fight the cancer. It uses substances made by the body or in the laboratory to improve or restore the individual's own immune system.
** https://www.ncbi.nlm.nih.gov/pubmed/28596308 ; https://www.ncbi.nlm.nih.gov/pubmed/26028255 ; https://www.ncbi.nlm.nih.gov/pubmed/27412392
If you or someone close to you have been affected by breast cancer and you've got questions, it is easy to call the CRUK nurses on Freephone 0808 800 4040
Helen Davies et al. (2017) Whole-genome sequencing reveals breast cancers with mismatch repair deficiency. Cancer Research. DOI: 10.1158/0008-5472.CAN-17-1083
The Wellcome Trust Sanger Institute
The Wellcome Trust Sanger Institute is one of the world's leading genome centres. Through its ability to conduct research at scale, it is able to engage in bold and long-term exploratory projects that are designed to influence and empower medical science globally. Institute research findings, generated through its own research programmes and through its leading role in international consortia, are being used to develop new diagnostics and treatments for human disease. http://www.sanger.ac.uk
Wellcome exists to improve health for everyone by helping great ideas to thrive. We're a global charitable foundation, both politically and financially independent. We support scientists and researchers, take on big problems, fuel imaginations and spark debate. http://www.wellcome.ac.uk
Wellcome Trust Sanger Institute
Related Breast Cancer Articles:
A new article published by JAMA Oncology compares outcomes for combined mammography and MRI or ultrasonography screenings for new breast cancers in women who have previously undergone breast conservation surgery and radiotherapy for breast cancer initially diagnosed at 50 or younger.
A Clinical Breast Cancer study demonstrates Videssa Breast can inform better next steps after abnormal mammogram results and potentially reduce biopsies up to 67 percent.
The proportion of women in the United States undergoing surgery for early-stage breast cancer who have preventive mastectomy to remove the unaffected breast increased significantly in recent years, particularly among younger women, and varied substantially across states.
Breast cancer patients with dense breast tissue have almost a two-fold increased risk of developing disease in the contralateral breast, according to new research from The University of Texas MD Anderson Cancer.
Breast conserving therapy (BCT) is better than mastectomy for patients with some types of early breast cancer, according to results from the largest study to date, presented at ECC2017.
An annual mammogram is recommended after treatment for breast cancer, but nearly one-third of women diagnosed with breast cancer aren't receiving this follow-up exam, according to new findings presented at the 2016 Annual Clinical Congress of the American College of Surgeons.
Even though dense breast tissue is a risk factor for breast cancer, very low mammographic breast density is associated with a worse prognosis in breast cancer patients.
Young women with early breast cancer face a difficult choice about whether to opt for a mastectomy or breast conserving therapy (BCT).
In a study appearing in the April 26 issue of JAMA, Elizabeth A.
Five years after breast-conserving surgery, radiotherapy focused around the tumor bed is as good at preventing recurrence as irradiating the whole breast, with fewer side effects, researchers from the UK have found in the large IMPORT LOW trial.
Related Breast Cancer Reading:
Chicken Soup for the Soul: Hope & Healing for Your Breast Cancer Journey: Surviving and Thriving During and After Your Diagnosis and Treatment
by Dr. Julie Silver (Author)
Chicken Soup for the Soul: Hope & Healing for Your Breast Cancer Journey will encourage comfort and encourage breast cancer patients and survivors with its inspiring stories and helpful medical information.
A support group from breast cancer diagnosis through treatment to rehabilitation and recovery, this book combines inspiring Chicken Soup for the Soul stories written just for this book and accessible leading-edge medical information from Dr. Julie Silver of Harvard Medical School. Patients and survivors will find comfort, strength and hope. View Details
Breast Cancer Smoothies: 100 Delicious, Research-Based Recipes for Prevention and Recovery
by Daniella Chace (Author)
The statistics are staggering. Breast cancer is the most common type of cancer among women--About 1 in 8 U.S. women (about 12%) will develop invasive breast cancer over the course of her lifetime. Second only to heart disease by a mere one percent, every ounce of prevention and every window of opportunity for healing is critical. In order to reduce the risk of developing this common disease, you need a targeted plan to protect yourself from common breast toxins and to strengthen your immune defenses.
In her delightful new book, Daniella breaks down the complex topic of... View Details
The Breast Cancer Survival Manual, Sixth Edition: A Step-by-Step Guide for Women with Newly Diagnosed Breast Cancer
by John Link M.D. (Author), James Waisman M.D. (Author), Nancy Link R.N. (Author)
One of the most comprehensive and bestselling books on breast cancer treatment and survival, completely revised and updated
The sixth edition of Breast Cancer Survival Manual provides essential updates on treatment and care, enhancing the basic information that has made this the most trusted guide for women diagnosed with breast cancer for the past two decades. This edition includes the most current advice on:
· The new genomic classification of breast cancer and its importance in treatment planning
· Cancer gene testing, which determines if a woman will benefit... View Details
Heal Breast Cancer Naturally: 7 Essential Steps to Beating Breast Cancer
by Dr. Veronique Desaulniers (Author)
One out of eight women will be diagnosed with Breast Cancer. One out of 3 women will experience some form of cancer in their life time.
I was one of those statistics even though I was living a healthy lifestyle that consisted of organic foods, regular exercise, massage, Chiropractic care and colonics. How could somebody like me develop Breast Cancer?
That very question led to thousands of hours of research, study, soul-searching and prayer. It all came together as The 7 Essentials – 7 basic steps that are necessary for preventing and healing cancer, or any dis-ease for... View Details
Dr. Susan Love's Breast Book (A Merloyd Lawrence Book)
by Susan M. Love (Author), Karen Lindsey (Contributor), Elizabeth Love (Contributor)
"The Bible for women with breast cancer" --New York Times
For more than two decades, readers faced with a diagnosis of breast cancer have relied on Dr. Susan Love's Breast Book to guide them through the frightening thicket of research and opinion to find the best options for their particular situations. This sixth edition explains advances in targeted treatments, hormonal therapies, safer chemotherapy, and immunologic approaches as well as new forms of surgery and radiation. There is extensive guidance for the many women now living for years with metastatic breast... View Details
Dear Friend: Letters of Encouragement, Humor, and Love for Women with Breast Cancer
by Gina L Mulligan (Author)
This beautiful collection of handwritten letters offers strength, encouragement, and comfort to women living with breast cancer. Written by compassionate strangers—many of whom have gone through their own health battles—these heartfelt letters were gathered by Girls Love Mail, an organization that provides support to people diagnosed with breast cancer as seen on NBC Nightly News. Presented in an elegant package with metallic endpapers, and a ribbon marker, and brimming with warm messages of empathy, inspiration, and humor, Dear Friend delivers words of wisdom when they're needed... View Details
The Whole-Food Guide for Breast Cancer Survivors: A Nutritional Approach to Preventing Recurrence (The New Harbinger Whole-Body Healing Series)
by Edward Bauman MEd PhD (Author), Helayne Waldman MS EdD (Author), Donald I. Abrams MD (Foreword)
If you’re a breast cancer survivor, chances are you have renewed your commitment to maintaining your good health and taking care of your body. As one of the best preventative measures known to doctors and nutritionists today, a robust, cancer-fighting diet is vital to your personal plan for breast cancer prevention.
The Whole-Food Guide for Breast Cancer Survivors is an essential guide for every woman seeking to understand the effect of nutritional deficiencies and environmental factors on her overall health and wellness. Based on Edward Bauman’s groundbreaking Eating for... View Details
Just Get Me Through This! - Revised and Updated: A Practical Guide to Coping with Breast Cancer
by Deborah A. Cohen (Author), Robert M. Gelfand M.D. (Author)
You Can Get Through This
Your doctor told you it was breast cancer. So now what?! You'll need plenty of essential advice--the kind that only comes from someone who's been there.
In Just Get Me Through This! Deborah A. Cohen and Robert M. Gelfand, M.D. help you deal with all the ups and downs of the breast cancer experience. From the shock of diagnosis to getting through treatment to getting on with your life, they pack it with plenty of straight talk and practical tips. This newly updated edition also includes advice from two prominent breast cancer... View Details
F*ck Breast Cancer Coloring Book: 50 Sweary Inspirational Quotes and Mantras to Color - Fighting Cancer Coloring Book for Adults to Stay Positive, ... Coloring Activity Book) (Volume 2)
by Pink Ribbon Colorists (Author)
ON SALE FOR A LIMITED TIME! There is a 'can' in cancer because together, we CAN beat it.
The stress of cancer can be debilitating. Whether you yourself have cancer or whether it is your mother, father, brother, sister, son, daughter, relative, friend, or spouse, this coloring book is here to give you hope and lift your spirits
What's Inside50 empowering pages to inspire you Single sided for framing and to prevent bleed through Large sized 8.5 x 11 inch pages Variance in difficulty levels Uplifting quotes and powerful, sweary... View Details