Keeping up with breast cancer: genetics and MRI

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Today is the third day of Jan Hills Women’s Health Week 2022an initiative dedicated to all women across Australia to make good health a priority.

According to the National Breast Cancer Foundation, 57 Australians are diagnosed with breast cancer every day – more than 20,000 each year, with an average of nine Australians dying from it every day. Breast cancer is the leading cause of cancer-related deaths among women worldwide, and one in seven Australian women will be diagnosed with breast cancer in their lifetime.

Breast cancer isn’t just found in women, of course, but with a rate compared to about 1 in 600 men diagnosed with it in their lifetime, it’s undoubtedly a major concern for women’s health.

An umbrella term, breast cancer comes in many forms – depending on whether it’s confined to the milk ducts or… lobules Milk-producing glands – or if they invade surrounding breast tissue. From here can cancer spread hard In nearby lymph nodes and other parts of the body.

Although five-year breast cancer survival rates have improved from 76% to 92% over the past three decades, diagnoses in Australia have improved. by 33% over the past ten years.

However, survival rates drop dramatically for women who get cancer again. In the United States, 10-year survival rates drop from 93% to 27% when the cancer comes back, and to 7% if it spreads to the rest of the body.

food for thought

A research collaboration led by Susan Waltz of the University of Cincinnati and Susan Wells of Cincinnati Children’s Hospital I looked at certain genes (Ron and DEK) are known to accelerate the growth of cancer cells as a way to predict cancer recurrence and possibly as targets for new therapeutic treatments.

These specific genes have been found to regulate specific metabolites — substances produced by the breakdown of food, drugs or chemicals in the body — and by tracking these changes, researchers have found markers that help predict patients’ outcomes. In addition, by targeting certain enzymes that are also involved in the regulation of these metabolites, a variety of new therapies could be promising.

“It could be a dietary method, and it could be different ways of treating patients compared to the toxic genes we’re giving patients now,” Waltz says.

“Regulating metabolites is much easier than regulating genes,” Wells said. Hopefully one day we can treat these worst features of cancer by targeting the cancer’s metabolism.”

It’s in the genes

The search for genetic markers such as BRCA1 and BRCA2 as a way to predict a woman’s predisposition to developing breast cancer in the first place is well established, as is mammography (which is Free every two years for women in Australia over the age of 40).

Woman getting a mammogram
A mammogram is one of the main ways to detect breast cancer. Credit: Kali9/Getty Images

However, for those who carry disease-causing variants in some other genes such as ATM, CHEK2 and PALB2, there is early evidence and better testing – genetic and imaging – is needed.

“For women with disease-causing variants in these genes, our modeling analysis predicted a lifetime risk of breast cancer of 21% to 40%, depending on the variant,” says Dr. Catherine Lowery, assistant professor of radiology at the University of Washington. Medical School. in research paper Released earlier this year, led by Lowry, their models strongly indicated a benefit in regular magnetic resonance imaging (MRI) scans of women with any of the three variants in the genes PALB2, ATM and CHEK2.

“We expect that initiating annual MRI screening at age 30 to 35, with annual mammography beginning at age 40, will reduce the cancer mortality rate in this population of women by more than 50%.”

Models operated by Lowry and researchers at the Cancer Intervention and Surveillance Models Network (CISNET), Allergy-Related Cancer Risk Estimates (CARRIERS), and the Breast Cancer Surveillance Consortium also predicted the number of false positives and benign biopsies expected in the case of MRI. This method was used.

False positives and resulting diagnostic biopsies are one of the many reasons why MRI is not a diagnostic imaging method for detecting breast cancer. It is estimated that two out of ten breast MRI scans result in false positives, causing additional physical and emotional stress, not to mention increased costs and what some consider “overtreatment”.

Magnetic resonance imaging: the ability to shed light

Researchers from the Medical University of Vienna have foundHowever, by incorporating a technology known as diffusion-weighted imaging (DWI) into standard MRI screening procedures, unnecessary biopsies can be reduced by up to 30%.

Taking an additional three minutes to perform a DWI – which is also routinely used to diagnose stroke – enables doctors to better characterize lesions in breast tissue. That’s because hydrogen molecules “dance” faster in healthy tissue than in malignant tumors, according to Paula Klauser of the Department of Biomedical Imaging and Image-Guided Therapy at the Medical University of Vienna who led the study. “Cancers alter tissues on a microscopic scale and thus prevent movement of water molecules,” which means that by looking at water molecules mapping, a tumor can be better distinguished from healthy tissue that happens to be well supplied with blood (such as can occur with inflammation).

It’s also clear that MRI is better for detecting recurrent cancer in women whose breast tissue is denser than usual. Women with dense breasts have a higher percentage of fibroglandular tissue (glandular and connective tissue) than fatty tissue.

This density can cause problems in detecting cancers with a regular mammogram as it can mask or obscure the lesions. Thick breasts too An independent risk factor for breast cancer.


Read more: Focus on breast cancer


MRI is much better at detecting breast cancer than mammography and for people with dense breasts — especially those who have already had cancer — it may be an important monitoring tool for early detection.

Breast cancer seen on MRI
Breast cancer is shown on MRI with a yellow arrow indicating ductal carcinoma with a diameter of 0.8 cm. Credit: Radiological Society of North America

Dr. Soo Hyun Lee, in the Department of Radiology at Seoul National University Hospital in Korea, investigated How MRI screening procedures can be improved for women with a personal history of breast cancer. Brightening or improvement known as ‘background parenchymal improvement’ (BPE) in postoperative breast MRI, after addition of a contrast agent, may indicate response to breast cancer treatment and may be indicative of modified risk of the second. Breast cancer after treatment in women with a personal history of breast cancer,” he told me.

Lee also believes that the best approaches will involve several imaging techniques, including mammography, ultrasound, and MRI. “This approach will lead to more surveillance strategies tailored to women with a history of breast cancer,” she said.

Although there is still more work to be done in how and when MRI can be used as a diagnostic and monitoring tool for breast cancer, there is still a strong argument for its consideration in our screening protocols, regardless of whether a woman has developed cancer from before or not.

In the meantime, risk factors for first-time or recurring breast cancer continue to be investigated. These include aspects such as age at first diagnosis, genetic mutations, menopause, hormonesdiet and even physical activity levels (A new search appears An increased level of physical activity and a reduction in sitting time is likely to reduce the overall risk of breast cancer.)

What can you do?

Be active, check it out, and see someone if you need to. Support the women around you to do the same, as there is plenty of evidence that women’s experiences in The health system is not the same for men.



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