Bi-annual MRIs helps high risk breast cancer patients

An MRI every six months could be far more effective in detecting breast cancer in younger women with a high-risk genetic profile than an annual mammogram, according to researchers.

The findings showed that undergoing a dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) every six months helped “downstage” aggressive breast cancer by finding small early lesions in women with high-risk mutations -- that are crucial to improving outcomes.

The DCE-MRI scans detected node-negative, invasive tumours less than one centimetre and performed especially well in young women with BRCA1 mutation - which increases the risk for aggressive subtypes of breast cancer.

“Mammograms remain important for most women. But for women at high risk who are getting a DCE-MRI every six months, annual mammograms could probably be eliminated,” said a Prof.

“For this group of younger women at significantly elevated risk, especially those with a BRCA1 mutation, we strongly support getting a DCE-MRI every six months,” the Dr. added. Between 2004 and December 2016, the researchers enrolled 305 women into a clinical trial with a lifetime breast cancer risk greater than 20 %, who were scheduled to undergo a clinical breast examination and a DCE-MRI scan every six months, and a digital mammogram every 12 months. 

The DCE-MRI curtailed the spread of the cancers to the lymph nodes as well as detected tumours smaller than a centimetre. “This study demonstrates, for the first time, that aggressive breast cancers can be caught early, without excessive recalls or biopsies,” the Dr. said. 

The researchers also suggested that all women should test for BRCA1 and BRCA2 at about age 30, regardless of personal or family history of cancer. that would detect mutations and help early action at preventing cancer.

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Do you need mastectomy?

Experts fear that Angelina Jolie’s disclosure of preventive mastectomies may be misinterpreted by women who don’t really need the surgery.

One of the defining moments in the history of breast cancer occurred in 1974 when the first lady,Betty Ford,spoke openly about her mastectomy,lifting a veil of secrecy from the disease and ushering in a new era of breast cancer awareness.

Now four decades later,another leading lady — the actress Angelina Jolie — has focussed public attention on breast cancer again,but this time with an even bolder message: A woman at genetic risk should feel empowered to remove both breasts as a way to prevent the disease. Jolie revealed on Tuesday that because she carries a cancer-causing mutation,she has had a double mastectomy.

Some doctors,however,expressed worry that Jolie’s disclosure could be misinterpreted by other women,fuelling the trend toward mastectomies that are not medically necessary. In recent years,doctors have reported a virtual epidemic of preventive mastectomies among women who have cancer in one breast and decide to remove the healthy one as well,even though they do not have genetic mutations that increase their risk and their odds of a second breast cancer are very low.

Jolie wrote on the Op-Ed page of The New York Times that she had tested positive for a genetic mutation known as BRCA1,which left her with an exceedingly high risk (87 per cent) for developing breast and ovarian cancer. After genetic counselling,Jolie opted to have both breasts removed and to undergo reconstructive surgery.
Her condition is rare. Mutations in BRCA1 and another gene called BRCA2 are estimated to cause only 5 per cent to 10 per cent of breast cancers and 10 per cent to 15 per cent of ovarian cancers among white women in the United States. The mutations are found in other racial and ethnic groups as well,but it is not known how common they are.

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Hereditary genes linked to increased cancer risk from alcohol

A new study has shown that people carrying certain mutations in two hereditary cancer genes, BRCA2 and PALB2, may have a higher than usual susceptibility to DNA damage caused by a byproduct of alcohol, called acetaldehyde.

The scientists, who conducted experiments on human cell lines in laboratory at the Johns Hopkins Kimmel Cancer Center, said they suspect that the two genes in their normal forms evolved to protect cells against the damaging effects of acetaldehyde, which can lead to cancer.

“We need to identify which behaviours in certain populations increase disease risk, and keep in mind that our genetic susceptibility plays a large role in cancer risk,” Scott Kern, M.D ., the Everett and Marjorie Kovler Professor in Pancreas Cancer Research at Johns Hopkins, said.

Acetaldehyde is produced during the metabolism of alcohol and is known to cause DNA damage.

The scientists found that BRCA2 and PALB2-mutant cell lines exposed to acetaldehyde had up to 25 times more growth reduction when compared with related cells lacking these mutations.

The significant reduction in cell growth indicates that these cell lines, which lack the two genes, are more susceptible to the DNA damage caused by acetaldehyde, said the scientists.

They suggested that the DNA-damaging effects of acetaldehyde exposure in people lacking these genes may accelerate cancer growth.

The study is published in the American Journal of Pathology.

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Breast Cancer and Your Genes

Women with a family history of breast cancer account for 5% to 10% of all women with the 

disease. Having a close relative (mother, sister, or daughter) with breast cancer poses the 

greatest risk to other female members of the family, doubling the risk compared to that of the 

general population.

Several characteristics may suggest that a woman has a breast cancer gene:

• Diagnosis of breast cancer before age 40
• 
  
• Several family members diagnosed with breast and/or ovarian cancer
• 
  
• Diagnosis of bilateral breast cancer (cancer in both breasts)
• 
  
• Being of Ashkenazi Jewish descent
• 
  
• Having ovarian cancer with or without a family history of breast or ovarian cancer
• 
  
• Having a male in the family with breast cancer

What Are Breast Cancer Genes?

Each of us is born with two copies of about 100,000 different genes contained in each cell. 

Genes are tiny segments of DNA that control how cells function. One copy of each gene 

comes from your mother; the other is from your father.

A gene can develop an abnormality that changes how the cell works. Abnormalities in two 

genes -- BRCA1 and BRCA2 -- have been found in some women with breast cancer. Over 

200 mutations of these genes exist. Specific mutations in these genes are associated with an 

increased breast cancer risk.

An estimated one in 800 women carry the BRCA1 gene (the number of carriers of BRCA2 

remain unknown). Women with inherited changes in either of these genes have up to an 85% 

chance of developing breast cancer in their lifetime.

The risk of developing a second breast cancer among individuals carrying the BRCA1 gene 

is 65%. Bilateral breast cancer (cancer in both breasts) is also common in women who carry 

the mutated form of this gene.

Although less is known about the BRCA2 gene, scientists do know that mutations in the gene 

are associated with a similar risk of developing breast cancer among carriers. Alterations in 

the BRCA2 gene may also account for a small percentage (6%) of male breast cancer.

Both mutations in the BRCA1 and BRCA2 genes can be inherited from either parent. 

Therefore, the father's family history of breast cancer is also important. Men or women who 

carry one of these gene mutations have a 50/50 chance of passing it on to each of their 

children.

Usually, these BRCA genes help to prevent cancer by creating proteins that keep cells from 

growing abnormally. But, if a changed or mutated BRCA1 or BRCA2 is inherited, you may 

be more susceptible to developing cancer during your lifetime. In addition, women with an 

altered BRCA gene usually have an increased risk of developing breast cancer at a younger 

age (before menopause). However, it's important to note that not all women who carry these 

genes will develop cancer.

Mutations in genes other than BRCA1 and BRCA2 have been shown, or are suspected, to play a role in increasing a person's risk of breast cancer.

At-risk families can take blood tests to screen for mutations in these genes. However, genetic testing is done only when definitely indicated by a strong personal or family history. Genetic testing may also be used to determine if a woman who has already been diagnosed with breast cancer is at an increased risk for a second breast cancer or ovarian cancer.