Few Men Are Tested for Breast Cancer Gene Mutations, Though They Can Be at Risk

By Aaron Barriga

Cancer is one of the leading causes of death among Americans. At least 10 percent of cancers are caused by inherited mutations in genes like BRCA1 and BRCA2.

These cancer gene mutations are passed down in families. Parents with the mutation have a 50 percent chance of passing it down to each son or daughter. Mutations in the BRCA genes place women at a very high risk for breast and ovarian cancer. What is less well known is that men with BRCA mutations are also at risk of breast cancer and other cancers.

A study published April 26th 2018 in JAMA Oncology found that few men are screened for these genetic mutations – and the researchers strongly suggest that they do so.

“If a male has a BRCA mutation, their risk of breast cancer increases 100-fold,” said Dr. Christopher Childers, a resident physician in the department of surgery at the David Geffen School of Medicine at UCLA and the paper’s senior author. “But it’s not just breast cancer –BRCA mutations put men at higher risk for often aggressive prostate cancers that occur at younger ages. These mutations have also been associated with other cancers, such as pancreatic cancer and melanoma.  It is therefore very important that men at risk of a BRCA mutation get genetic testing, as it can potentially help them detect future cancers and help physicians tailor cancer treatment if they do. ”

This may be the first national study analyzing the rates of genetic cancer testing for both men and women, Childers said.

Analyzing data from the 2015 National Health Interview Survey, the researchers estimated that nearly 2.5 million people had received cancer genetic testing. This includes testing for genes related to breast/ovarian cancer like BRCA, but also those related to risk for colorectal and other cancers. Of the 2.5 million people, nearly three times as many women received testing compared to men (73 percent vs. 27 percent).

The researchers also found that the disparity in testing was specific to breast/ovarian cancer. Men underwent testing for breast/ovarian cancer genes at one-tenth the rate of women. There was no gender disparity for colorectal or other cancer testing.

On the socio-demographic front, fewer Hispanics, the uninsured, non-citizens, and those with less education received genetic testing compared with the rest of the population. 

The next step is to determine why so few men get tested and find ways to increase those rates, said lead author Kimberly Childers, a genetic counselor and regional manager of the Providence Health and Services Southern California’s clinical genetics and genomics program. 

“Previous studies have shown that men don’t necessarily understand the importance of a breast/ovarian cancer gene mutation – that it is more of a “feminine” issue – but this couldn’t be further from the truth,” she said. “We hope this study will spur broad national educational efforts.”

Study limitations include the fact that the survey was based on self-reported data, which can be unreliable; recall bias; and limited details regarding reasons for testing.

The Agency for Healthcare Research and Quality funded this study.

Study co-authors are Melinda Maggard-Gibbons and James Macinko of UCLA.