There is a proven scientific association between genetics and increased cancer risk. That risk is not a cancer guarantee. Knowing your family history and understanding your risk is the first step to early monitoring and minimizing health risks.
Genetics - Family History
BRCA1 and BRCA2 in Men
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 can carry BRCA1 or BRCA2 gene mutations and 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.
Medical management for men with BRCA1/2 mutations changes at age 35-40. Starting at age 35, male BRCA mutation carriers should begin yearly clinical breast exams with a physician. At age 40, prostate cancer screenings are recommended for BRCA2 carriers and considered for BRCA1 carriers. Men with a BRCA mutation and a family history of pancreatic cancer or melanoma should speak to a physician to develop a personalized screening plan for those cancers.
Men in a family with a known or suspected BRCA mutation may also wish to undergo genetic testing to make reproductive decisions. The decision to use reproductive technologies to avoid passing on genetic traits is a deeply personal choice. For individuals that want to consider these technologies, Preimplantation Genetic Diagnosis (PGD) can be used with in vitro fertilization. PGD involves screening of embryos (fertilized eggs) for a specific gene mutation, such as BRCA1/2 mutations, before being transferred into a woman’s womb. This can be an option for individuals who carry a hereditary condition and wish to significantly reduce the chance of passing it on to a child.
Frequently Asked Questions About BRCA1 and BRCA2
Who should consider geneticcounseling for BRCA1 or BRCA2 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 do I collect my family history before my visit to a genetics professional?
Collect a detailed family history of cancer from blood-relatives on both your mother’s and father’s side of the family. This includes your first degree (parents, siblings, children), second degree (half-siblings, grandparents, aunts, uncles) and third degree (cousins, great grandparents, great-aunts, great-uncles) relatives.
How common are BRCA1 and BRCA2 mutations?
Inherited mutations in BRCA1 and BRCA2 are not common. About 1 in 500 to 1 in 800 individuals in the general population have a mutation. Individuals of Ashkenazi Jewish descent have a 1 in 40 chance of carrying a BRCA1/2 mutation. This is at least a ten times greater probability than that of the general population.
Can women and men carry BRCA mutations?
Both women and men can carry BRCA mutations and pass them on to their male and female children.
What is the chance of passing on or inheriting a BRCA mutation?
If a mother or father carries a mutation, there is a 50% chance of passing it on to each child. This means that not all individuals from families with BRCA mutations inherit the same cancer risk.
How much is BRCA testing and does insurance cover it?
The cost of BRCA genetic testing varies by the type of test done. These costs are often covered, either in part or in full, by insurance carriers when an individual meets certain guidelines for testing. Medicare typically covers genetic testing for individuals with a personal history of cancer. Medicaid coverage varies by state.
What if I do not have insurance or cannot afford my BRCA testing?
Some medical centers and testing labs have financial assistance programs to assist uninsured and underinsured individuals with the cost of their BRCA testing.
Will a BRCA test result interfere with getting health insurance?
Federal legislation known as the Genetic Information Nondiscrimination Act (GINA) prevents employers and health insurance companies from discriminating against individuals based on their genetic information.
Are mutations in BRCA1/2 the only ones that impact cancer risk?
Although mutations in the BRCA1/2 genes are important predictors of cancer risk, they are not the only ones. A thorough risk assessment by a cancer genetics professional can help to determine if testing for other gene mutations is recommended.
Where can I get more information about BRCA1/2 and help finding a genetics specialist?
Visit or call the Basser Center at (215) 662-2748. The National Society of Genetic Counselors (www.nsgc.org) is also a helpful resource for finding genetics professionals in your area.
Above Information From the Basser Center for BRCA in collaboration with HIS Breast Cancer.
What is PALB2?
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. Mutations can occur in the PALB2 gene but are quite rare, Individuals with a PALB2 mutation have an increased risk of breast cancer.
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.
CHEK2 (Checkpoint Kinase 2):
Men with a CHEK2 mutation may be at an increased risk for breast cancer, prostate colon and other cancers. Women with a CHEK2 mutation are at increased risk of breast cancer up to approximately 37% during their lifetime in addition to increased risk of colon and other cancers.
ATM (Ataxia-Telangiesctasia mutated):
Both women and men can carry and pass on this genetic mutation to their sons and daughters. When the mutation is passed by one parent, it may increase the risk of female breast cancer 2-4 times higher as well as risks of pancreatic, prostate and other cancers.
TP53 (tumor protein 53):
A mutation in the gene TP53 which would normally help stop the growth of tumors, may be passed down from a mother or father. A TP53 mutation increases the risk of developing soft tissue sarcoma, osteosarcoma, female breast cancer, brain tumors, leukemia and possibly other types of cancer.
Those with a CDH1 genetic mutation may be at higher risk for developing stomach cancer and slightly increase risk of a type lobular breast cancer.
Stomach cancer increases with age (over 55) and more common in men than in women. Seek genetic counseling for CDH1 mutation if a member of your immediate family has been diagnosed with diffuse gastric cancer or diagnosed with stomach cancer before the age of 40.
With the continued updates of genetics associated with increased risk of cancer, please contact your local genetics counselor for additional information.
For a referral to a genetics professional in your area, visit the National Society of Genetic Counselors