More Tough Choices for Breast Cancer Screening

"Should a woman have a preventive mastectomy if her lifetime breast cancer risk is 25 percent compared to the average woman’s risk of 12 percent?" The risk percentage of breast cancer by mutations of the known genes BRCA1 and BRCA2 were high enough, one would say, to make informed choices of whether to undergo mastectomy. There are now new mutations that are not as high and make choices tough for women. Read about the study. 






After Angelina Julie's double mastectomy, the number of women who undergo screening has significantly risen up. She had mutations in the genes BRCA1 and BRCA2. She had a risk of 50-70% of developing breast cancer in her lifetime. To her, the choice was probably easier than for other women. 

There are now more newly identified mutations that could raise the risk of breast cancer. The problem is that they are not as highly indicative as the BRCA1 and BRCA2. Women faced with percentages as 25% are in a tough choice situation regarding undergoing an elective mastectomy. 

According to studies, one of those genes is PALB2 and it is associated with 35% chance of breast cancer by 70 years of age. Experts state that decisions depend on a detailed and individualized discussion of each patient and their family history. 

There has been over 12 mutation genes tested over the last year. But they are low effect and probably associated with other factors like smoking.   

Researchers "'found a woman’s risk was 33 percent if she had a PALB2 mutation and no family history and was 58 percent if she had a strong family history' with two or more family members with breast cancer."

In addition, "PALB2 mutations had a slightly higher risk of having “triple negative” breast cancer — a form that’s resistant to hormone treatment, more aggressive, and more likely to recur than other subtypes."

If women decide against a preventative double mastectomy, they "might benefit from taking anti-estrogen drugs like tamoxifen to lower their risk. They could also have extra screening. The American Cancer Society recommends that women who have a lifetime breast cancer risk of at least 20 to 25 percent have annual breast MRI screening along with mammograms; the organization recommends against MRI screening for women whose lifetime risk of breast cancer is less than 15 percent because the imaging detects a high number of false findings that turn out not to be cancer."

There are limitations regarding the newly discovered mutations. "Dr. Anees Chagpar, the director of the breast center at Yale-New Haven Hospital who also screens patients for PALB2 and a growing number of other breast gene mutations, pointed out that quantifiying risk information on the newer mutations was limited because most of the studies include a small number of women from a specific group of families."

It is worth adding that, the "researchers in the PALB2 study looked at 154 families that included 311 women and estimated that only 8 in 10,000 women carry the mutation, so finding enough women to study in the general population would be difficult."

In conclusion, "[researchers] are also eager to learn more about how genes interact in non-hereditary forms of breast cancer since 90 percent of women diagnosed with the disease don’t have a hereditary type."

Source and details of the study: 
The Boston Globe: http://www.bostonglobe.com/lifestyle/health-wellness/2014/08/17/screening-for-new-breast-cancer-genes-leaves-women-with-tough-choices/CU2GU8JC2eyjy06idePPMJ/story.html