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Men and Hereditary Gene Mutations

Can you be a man and have or pass down the BRCA (BReast CAncer) gene mutation? The quick answer is YES! So what does this mean exactly if you’re a guy? Take the time to learn more, it could save many lives!

EVERYONE has BRCA1 and BRCA2 genes. These genes help repair damage to the DNA within cells. However, some individuals inherit a mutation in one of their BRCA genes, which increases their risk for certain cancers, including breast (female and male), ovarian, pancreatic and prostate cancers, as well as melanoma. Those who test positive for a gene mutation have options available to lower and manage their cancer risks.

Men who carry BRCA1 or BRCA2 gene mutations can be at increased risk for certain cancers. While cancer risks in male BRCA mutation carriers are not as dramatically elevated as those of female BRCA mutation carriers, cancer risk management and early detection are crucial. It is important for both men and women to remember that a family history of breast, ovarian, prostate or pancreatic cancers on their father’s side of the family may indicate a hereditary gene mutation. Many people mistakenly believe a family history of breast or ovarian cancer only matters on their mother’s side of the family. Men can inherit a BRCA gene mutation from their mother or father and can pass on their BRCA gene mutation to their male and female children.

Who should consider genetic counseling for BRCA1 or BRCA2 or other mutations?

  • Men in a family with a known BRCA mutation

  • Men with a personal history of male breast cancer

  • Men with a personal history of prostate cancer with at least one close relative with breast cancer under age 50 or ovarian or pancreatic or prostate cancer at any age

  • Men with a personal history of pancreatic cancer with at least one close relative with breast cancer under age 50 or ovarian or pancreatic or prostate cancer at any age

  • Men with a personal history of pancreatic cancer and are of Ashkenazi Jewish ancestry

  • Men with a family history of breast cancer under age 50 or cancer in both breasts or ovarian cancer or any of the above criteria may also be recommended for genetic counseling

How and when should a man decide to be tested?

Deciding when to test is a very personal decision. Men often undergo testing between ages 35-40 or when they are beginning to start their own family because this is when medical management would change. Individuals may undergo testing at different times should they be interested in using reproductive technologies to avoid passing down a hereditary gene mutation. Children are not candidates for BRCA testing.

Genetic testing involves the collection of DNA typically through a blood test, or a saliva collection kit. DNA, the genetic material which contains all the genes, is isolated from the cells and studied for the presence or absence of inherited mutations in specific genes.

We recommend meeting with a genetic counselor for a better understanding and to help answer any questions or concerns you may have.

Women and men of Ashkenazi Jewish ancestry have a 1 in 40 chance of carrying a BRCA gene mutation. This is at least 10 times greater than the general population however this mutation can affect everyone.

Like BRCA1 and BRCA2 , PALB2 is one of the body's roughly 20,000 genes. The PALB2 gene produces proteins that work with the BRCA2 gene. PALB2 mutations also appear to increase the risk of male breast cancer and pancreatic cancer; although the exact lifetime risks are unknown. Research is ongoing to determine if PALB2 mutations increase the risk for other cancers.

*See below for some of the genes that are included in multi gene panels for breast cancer-

With the addition of genetic testing becoming more and more available, it’s important to discuss if or when you might consider being tested. In this instance, the knowledge you receive may save not only your life but also another family member. Remember, if you do carry the gene mutation, it does not mean you will definitely get cancer! We recommend speaking with a genetic counselor so you fully understand the testing process, what the results might mean and where you can find support if needed. It’s important to create a plan for prevention and early detection.

You may also find my blog on Sharing With My Sons and my brother and co-founder's blog Men to Boys; a Discussion of Hereditary Cancer, helpful reads as well!

The following contacts will assist you with more information about BRCA1/2 and help finding a genetics specialist?

Basser Center at Penn Medicine or call the Basser Center at (215) 662-2748.

The National Society of Genetic Counselors is also a helpful resource for finding genetics professionals in your area.

FORCE- Facing Our Risk of Cancer Empowered

You may also be interested in viewing the documentary, Pink and Blue: Colors of Hereditary Cancer which can be found on itunes here;

*Multi gene panel mutations:

#ATM: Helps repair damaged DNA. Inheriting 1 mutated ATM gene increases the risk of breast cancer 2- to 4-fold. #BARD1: Acts as a tumor suppressor gene. Mutations can increase breast cancer risk. #BRIP1: Works to repair DNA. There is insufficient evidence that BRIP1 increases breast cancer risk, but inheriting 1 mutated BRIP1 gene is associated with a higher risk of ovarian cancer, so it may be included in a multi gene panel. #CDH1: Makes a protein that helps cells bind together to form tissue. Women with a CDH1 mutation have a 39% to 52% life­time risk of invasive lobular breast cancer. #CHEK2: Provides instructions to the body for making a protein that stops tumor growth. CHEK2 mutation can increase the risks for breast, colon, and prostate cancer. #NBN: Forms in the MRN complex that helps repair DNA damage in cells. Mutations can weaken the immune system. #NF1: Acts as a tumor suppressor protein. A mutation can cause an increased risk of breast cancer. #PALB2: Provides instructions to make a protein that works with the BRCA2 protein to repair damaged DNA and stop tumor growth. It is a PALB2 mutation and some studies show this mutation increases breast cancer risk 5 to 9 times higher than the average. #PTEN: Helps regulate cell growth and causes Cowden syn­drome, a rare disorder in which people have a higher risk of both benign and cancerous breast tumors, as well as growths in the digestive tract, thyroid, uterus, and ovaries. The lifetime breast cancer risk for women with a PTEN mutation can be up to 85%. #STK11: Helps regulate cell growth. An STK11 mutation causes Peutz-Jeghers syndrome, a rare disorder in which people tend to develop a hamartomatous polyp, mostly in the small intestine, but also in the stomach and colon. Such a polyp increases the risk of gastrointestinal, breast, lung, and ovarian cancers. Those with this mutation may also develop freckling around the eyes and nose and around and inside the mouth. #TP53: Provides instructions to the body for making a protein that stops tumor growth and causes Li-Fraumeni syndrome, a disorder that causes people to develop soft tissue cancers at a young age. People with this rare syndrome have a higher than average risk of breast cancer and several other cancers.

*above list prepared by Lisa Guzzardi, RN and patient advocate

Best of Health,

Modeh Ani

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