Breast cancer genes: only a problem for women?


Famous actor Angelina Jolie made headlines when she announced she was having a preventive mastectomy after testing positive for a BRCA mutation.

It was a story that caught the attention of women everywhere.

However, women are not the only ones who are affected by these genes.

A year ago, Josh Newby quit his successful job at a dot-com company to care for his mom, Theresa.

He says, "It's the greatest decision I ever made."

Theresa had stage four breast cancer and was in hospice until she passed away.

When she was diagnosed, she tested positive for a BRCA gene mutation. She wanted Josh to get the blood test too. His result was also positive.

Josh says, “"I thought, wow, I have this gene. I got to take my life a little more seriously probably."

Genetic Counselor Khateriaa Pyrtel, Washington University School of Medicine, says many do not realize men can pass the faulty gene to their daughters and women can pass it on to their sons.

Pyrtel says, "I do find that it's often like they're not even thinking about the men in the families. We get the same information from our mothers that we do from our fathers in terms of our genes."

Men and women with a BRCA mutation have a 50 percent chance of passing it on. Women with the mutation are up to seven-times more likely to develop breast cancer, and at least ten-times more likely to develop ovarian cancer.

The risk is much lower for men. Only 2,240 cases of male breast cancers are diagnosed each year. However, men with the mutation are at a higher risk for other types of cancers including prostate, stomach, pancreatic cancer, and melanoma.

The rule of thumb, men should consider testing if they have a strong family history of breast or ovarian cancer. Josh was glad he did.

Josh says, “I do hope to have children someday, and that's very powerful information to have."

Josh has made early cancer screenings a priority, and since his mom's diagnosis, he started a foundation to raise money for cancer research. He wants to give others the chance his mom did not have.

"She's just the most amazing person in the world,” John says.

There's currently no standardized guidelines recommended for men, but men from families with a strong history of breast and ovarian cancer should consider being tested.

For more information on his foundation, you can visit metastaticfoundation.org.

BREAST CANCER GENES: A GUY PROBLEM?
REPORT #2073

BACKGROUND: Approximately five to ten percent of breast cancers are thought to be hereditary. Most inherited breast cancer cases are associated with two abnormal genes: BRCA1 and BRCA2. Everyone carries them. Their function is to repair cell damage and keep breast cells growing normally. However, when these genes are mutated, they don't function normally and breast cancer risk increases. BRCA1 and BRCA2 abnormal genes account for up to ten percent of all breast cancers, or one out of every ten cases. (Source: http://www.breastcancer.org)

RISKS: Having an abnormal BRCA1 or BRCA2 gene doesn't mean you will be diagnosed with breast cancer. Researchers are discovering that other mutations in parts of chromosomes-called SNPs (single nucleotide polymorphisms)-may be linked to higher breast cancer risk in women with an abnormal BRCA1 gene as well as women who didn't inherit an abnormal breast cancer gene. You are substantially more likely to have an abnormal breast cancer gene if:
* You have blood relatives on either your father's or mother's side of the family who had breast cancer diagnosed before age 50.
* A man in your family has had breast cancer.
* There is both ovarian and breast cancer in your family.
* There are other gland-related cancers in your family such as pancreatic, colon, and thyroid cancers. (Source: http://www.webmd.com)

BRCA IN MEN: The average woman in the U.S. has about a 12 to 13 percent risk of developing breast cancer in her lifetime. Women who have an abnormal BRCA1 or BRCA2 gene can have up to an 80 percent risk of being diagnosed with breast cancer during their lifetime. Men who have an abnormal BRCA2 gene have a higher risk for breast cancer than men who don't-about eight percent by the time they are 80 years old. Men with an abnormal BRCA1 gene have a higher risk of prostate cancer. Men who have an abnormal BRCA2 gene are seven times more likely than men without the abnormal gene to develop prostate cancer. In May 2013, a man became the first patient to undergo a prostatectomy after finding out that he carried the BRCA2 gene mutation. The man who had the surgery was participating in a clinical trial that involved more than 20,000 men. Previous results from the trial showed that a man with a BRCA2 mutation has an 8.6-fold increased risk of developing prostate cancer, and with a BRCA1 mutation has a 3.4-fold increased risk. The man was described as a 53-year-old London businessman who has children and has several family members who have had breast or prostate cancer. Researchers were reluctant at first; however, a biopsy showed microscopic malignant changes. "The relatively low level of cancerous cells we found in this man's prostate before the operation should, these days, not prompt immediate surgery to remove the gland, but given what we now know about the nature of BRCA2, it was definitely the right thing to do for this patient," Dr. Kirby was quoted as saying. (Source: http://www.medscape.com/viewarticle/804423).

While a prostatectomy may be extreme, men who know they carry a BRCA gene mutation should take proactive steps like getting screened regularly for some of the cancers associated with the mutation, such as an annual prostate cancer screening with a PSA test and annual skin examinations for melanoma. Men with a BRCA mutation should also seek medical advice about any changes in their breasts. (Source: www.cancer.gov)

? For More Information, Contact:

Khateriaa Pyrtel, MS, CGC
Certified Genetic Councilor
Washington University School of Medicine
pyrtelk@wudosis.wustl.edu


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