Learn your family’s health history and share it with your doctor.

Your family health history is a record of diseases and conditions that run in your family. Your family members may share genes, habits, and environments that can affect your risk of getting cancer.

What Information Do I Need?

Gather information about yourself and your relatives who are related to you by blood, including—

• Parents and grandparents.
• Aunts and uncles.
• Sisters and brothers.
• Nieces and nephews.
• Children.

Information should include—

• Who had cancer and what specific kinds did they have?
• How old were they when they were diagnosed with cancer?
• Are they still living? If not, at what age did they die and what caused their death?

How Do I Collect Family Health History Information?

Take time to ask about your family history of cancer at family gatherings. Respectfully ask your relatives to help fill in the gaps and confirm what you remember. Also, look through any family records, death certificates, or obituaries.

Do I Have a Higher Risk of Getting Cancer?

If you have a family history of breast, ovarian, uterine, or colorectal cancer, you may have a higher risk for developing these cancers.

Tell your doctor if—

• A relative was diagnosed before age 50 with uterine, breast, or colorectal cancer.
• Two or more relatives on the same side of the family were diagnosed with uterine, breast, or colorectal cancer.
• A female relative was diagnosed with ovarian cancer.
• A male relative was diagnosed with breast cancer.
• You have an Eastern European or Ashkenazi Jewish ancestry.

Telling your doctor about your family health history is the first step to find out if you may have a higher cancer risk. It could help you and your doctor decide what tests you need to screen for cancer, when to start, and how often to be tested. Knowing your family health history also helps you and your doctor decide if genetic counseling or testing may be right for you.

What Is Genetic Counseling and Testing?

If your family health history suggests that you may carry a genetic mutation, your doctor can refer you to genetic counseling.

A genetic counselor is a specialist who asks you about your health history and your family’s health history and helps you decide if genetic testing is right for you. A genetic test uses your saliva or blood to look at your DNA. By looking for changes in the DNA, sometimes called mutations, the test can tell you whether you may have a higher risk of developing cancer than most people.

What Should I Do If I Have a Genetic Mutation?

Having a genetic mutation does not mean you will get cancer. You can do things to lower or manage your cancer risk. Talk to your doctor about—

• Tests. You may need to start getting screening tests earlier and get tested more often, or with different tests than other people.
• Medicine or surgery that could lower your cancer risk.
• Making healthy choices like quitting smoking, not drinking alcohol, exercising regularly, and keeping a healthy weight.

Which Hereditary Conditions Raise My Chances of Getting Cancer?

Several hereditary conditions can raise your chances of getting cancer. Two of the most common are hereditary breast and ovarian cancer (HBOC) syndrome and Lynch syndrome.

• People with HBOC syndrome have a higher risk for breast, ovarian, high-grade prostate, and pancreatic cancers.
• People with Lynch syndrome have a higher risk for colorectal, uterine, and ovarian cancers.

A family health history is a record of health information about a person and his or her close relatives. A complete record includes information from three generations of relatives, including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins.

Families have similar genetic backgrounds, and often similar environments and lifestyles. Together, these factors can give clues to conditions that may run in a family. By noticing patterns of disorders among relatives, healthcare professionals can determine whether an individual, family members, or future generations may be at an increased risk of developing a particular condition.

A family health history can identify people with a higher-than-usual chance of having common disorders, such as heart disease, high blood pressure, stroke, certain cancers, and type 2 diabetes. These complex disorders are influenced by a combination of genetic factors, environmental conditions, and lifestyle choices. A family history also can provide information about the risk of rarer conditions caused by variants (mutations) in a single gene, such as cystic fibrosis and sickle cell disease.

While a family health history provides information about the risk of specific health concerns, having relatives with a condition does not mean that an individual will definitely develop that condition. On the other hand, a person with no family history of a disorder may still be at risk of developing the disorder.

Knowing one’s family health history allows a person to take steps to reduce his or her risk. For people at an increased risk of certain cancers, healthcare professionals may recommend more frequent screening (such as mammography or colonoscopy) starting at an earlier age. Healthcare providers may also encourage regular checkups or testing for people with a condition that runs in their family. Additionally, lifestyle changes such as adopting a healthier diet, getting regular exercise, and quitting smoking help many people lower their chances of developing heart disease and other common illnesses.

The easiest way to get information about family health history is to talk to relatives about their health. Have they had any health problems, and when did they occur? A family gathering could be a good time to discuss these issues. Additionally, obtaining medical records and other documents (such as obituaries and death certificates) can help complete a family health history. It is important to keep this information up-to-date and to share it with a healthcare professional regularly.

Did you know that we are increasingly able to detect cancers by testing just a blood sample? Or that we are moving toward treating cancers not by where they are found in the body, but by how their genomes have changed? Cancer is caused by changes in your genome, but advances in DNA sequencing technology are leading to a new understanding of cancer and new ways for diagnosing and treating many types of cancer.

Cancer is a group of genetic diseases that result from changes in the genome of cells in the body, leading them to grow uncontrollably. These changes involve DNA mutations in the genome. Our cells are constantly finding and fixing mutations that occur in our genome as the cells divide over and over again. But on rare occasions, some mutations slip through our cells' repair machinery, and those mutations can lead to cancer. The Human Genome Project has allowed us to establish what "normal" usually looks like for a human genome, so that we can now tell when changes in our genome have taken place that lead to cancer.

Large projects around the world, like The Cancer Genome Atlas in the United States and the Catalogue of Somatic Mutations (COSMIC) in the United Kingdom, have now determined the genome sequences of thousands of cancer samples of many cancer types. These projects have shown that some cancers have mutations in the same group of genes, even though they may have started in completely different tissues. Many of the mutations activate genes that normally promote cell growth or break genes that normally prevent cell growth. If we know more about the specific mutations that led to someone's cancer, no matter what tissue it was located in, then we can look for more specific and effective treatments for their cancer.

Using the Genome to Treat Cancer

Dr. Lukas Wartman, a physician and a researcher at Washington University, has both led cancer genomics efforts and experienced them himself. Lukas was diagnosed with a blood cancer called acute lymphoblastic leukemia (or ALL) in 2003, when he was in his fourth year of medical school. This led him to specialize in treating patients with leukemia, and studying the disease in the laboratory. While his university was helping pioneer cancer genome sequencing, Lukas suffered a relapse of his ALL with severe symptoms. So the laboratory, including Lukas's mentor, asked if they could study him.

The team compared the genome sequences of his normal cells and those of his cancerous blood cells. In his cancer's genome, they found mutations in a gene called FLT3. The team then found that there was an existing medication that could be used for treating patients with mutations in this gene. Although it had originally been approved for treating other cancers, not blood cancer, they tried it anyway. Lukas started taking the medicine on a Friday, and his blood counts already showed better results by Monday. After a number of weeks, the leukemia cells were no longer detectable in his blood, meaning his cancer was in remission. He will still need more treatment, but Lukas would not have survived without the results of the genome sequencing that pointed him to a new therapy.

There are over 10,000 clinical trials for new therapies in cancer that are recruiting right now in the United States. In addition, cases like Lukas' have led to the resurgence of "n-of-1" clinical trials, where doctors can gather enough information from just one patient to try a new therapy. Such trials are aided by patients who share their genomic data with researchers or even openly with other patients. Increasingly there is hope that as clinicians evaluate new cancer patients, they will be able to compare each new case with these large databases that might include positive responses to medications approved for a different cancer but with the same mutation(s), just like Lukas found for ALL.

Blood Tests to Detect Cancer

Unfortunately, some cancers are harder to evaluate because looking at their genomes would require difficult and painful biopsies or operations where tiny parts of the cancer tissue are removed for study. This also makes it harder for clinicians to monitor how treatment is working for some cancers because repeated biopsies are just not possible. Recent breakthroughs now allow the detection of circulating tumor DNA (or ctDNA) in the blood of patients instead of directly sampling the tumor. As cancer cells grow very fast and die, they release some of their DNA into the bloodstream. We now have tests that are sensitive enough to detect and sequence these pieces of ctDNA in the bloodstream separately from the normal DNA of the patient - this is called a "liquid biopsy."

Although liquid biopsies are not yet in widespread use for cancer detection, improvements are being made all the time that move us closer to the routine use of ctDNA tests. One of the current approved uses for ctDNA is to test progression of non-small cell lung cancer by looking for specific mutations in the EGFR gene over time. Liquid biopsies can point to who will likely relapse after treatment, by detecting DNA with EGFR mutations that is circulating in the blood, sometimes better and more quickly than the now-used standard imaging techniques.

When Cancer Runs in Your Family

If you have a number of relatives who have developed cancer, you might be concerned about your own risk. By far, most cancers are not inherited, but there are a few examples of inherited cancers like Lynch syndrome (also known as hereditary non-polyposis colorectal cancer). This disorder is due to inherited mutations in any of six different genes, and leads to an increased risk of different types of cancers, most often in the colon. Breast cancer is another example; again most cases are not inherited, but men or women who have inherited mutations in the BRCA1 or BRCA2 genes have a much higher chance for developing breast cancer than other people. As we learn more about the genomic changes predisposing a person to cancer, we have been able to make screening tests available to many more people. The specific DNA sequences of the BRCA1 and BRCA2 genes were even the subject of a legal case that went all the way to the United States Supreme Court, who ruled that the sequences of your genes could not be patented. Before this ruling, only one company could provide BRCA1 or BRCA2 testing in the United States, but now there are a number of companies who can help if you'd like to have genomic testing for hereditary causes of breast cancer.

If you are a woman with a family health history of breast cancer or ovarian cancer, you may be more likely to get these cancers yourself. Collecting your family health history of breast, ovarian, and other cancers and sharing this information with your doctor can help you find out if you’re at higher risk. If you have had breast, ovarian, or other cancers, make sure that your family members know about your diagnosis.

Your doctor might consider your family health history in deciding when you should start mammography screening for breast cancer. If you are a woman with a parent, sibling, or child with breast cancer, you are at higher risk for breast cancer. Based on current recommendationsexternal icon, you should consider talking to your doctor about starting mammography screening in your 40s. In some cases, your doctor might recommend that you have genetic counseling, and a genetic counselor might recommend genetic testing based on your family health history. Breast, ovarian, and other cancers are sometimes caused by inherited mutations in BRCA1, BRCA2, and other genes. The genetic counselor can help determine which genetic mutations you should be tested for, based on your personal and family health history of cancer, ancestry, and other factors.

When collecting your family health history:

• Include your parents, sisters, brothers, children, grandparents, aunts, uncles, nieces, and nephews
• List any cancers that each relative had and at what age he or she was diagnosed. For relatives who have died, list age and cause of death.
• Remember that breast and ovarian cancer risk doesn’t just come from your mother’s side of the family—your father’s relatives with breast, ovarian, and other cancers matter, too!
• Update your family health history on a regular basis and let your doctor know about any new cases of breast, ovarian, or other cancer.

If you are concerned about your personal or family health history of breast, ovarian, or other cancer, talk to your doctor. Whether or not you have a family health history of breast or ovarian cancer, you can take steps to help lower your risk of breast cancer and ovarian cancer.

Having a family health history of colorectal cancer makes you more likely to get colorectal (colon) cancer yourself.

Knowing your family health history of colorectal cancer and sharing this information with your doctor can help you take steps to lower your risk. If you have multiple relatives who have been diagnosed with colorectal cancer or relatives who have been diagnosed at a young age (before age 50), your doctor may change your medical management to prevent colorectal cancer or catch it as early as possible. If you have been diagnosed with colorectal cancer, it is important to tell your family members.

Based on current recommendations, most people start colorectal cancer screening at age 50, but if you have a family history your doctor may recommend the following:

• Colonoscopy starting at age 40, or 10 years before the age that the immediate family member was diagnosed with cancer,
• More frequent screening,
• Colonoscopy only instead of other tests, and
• In some cases, genetic counseling.

Precancerous colorectal polyps are abnormal growths in the colon or rectum that can turn into cancer if they are not removed. However, not all polyps turn into cancer. If you have been diagnosed with certain types of colorectal polyps, your doctor may recommend starting colonoscopy screening earlier. Be sure to let your family members know about your history of colorectal polyps.

When collecting your family health history

• Include your parents, sisters, brothers, children, grandparents, aunts, uncles, nieces, and nephews
• Make sure to document both your mother’s side of the family and your father’s side of the family
• Document which relatives have had cancer, the type(s) of cancer they have had, and the ages at which they were diagnosed
• Report any history of polyps that each relative has had
• List the age and cause of death for relatives who have died
• Share your family health history with your doctor
• Update your family health history regularly and alert your doctor to any new diagnosis

If you are concerned about your personal or family health history of colorectal cancer, talk to your doctor.

Key Points

• Having certain hereditary syndromes can increase the risk of kidney cancer.
• Hereditary and non-inherited kidney cancers differ in several ways.

Having certain hereditary syndromes can increase the risk of kidney cancer.

Most of the time, kidney cancer is not passed down from parent to child. Kidney cancer that affects multiple generations of a family is called hereditary kidney cancer. Hereditary kidney cancer is rare and accounts for only 5% to 8% of all kidney cancers. It is usually linked to a hereditary syndrome. A hereditary syndrome is a set of signs and symptoms or conditions that occur together and is caused by certain changes in the genes that can be passed down from a parent to a child. Hereditary syndromes are sometimes called genetic syndromes or family cancer syndromes. People with the hereditary syndromes described in this summary have an increased risk of getting kidney cancer.

The four hereditary syndromes described in this summary are:

• von Hippel-Lindau disease (VHL).
• Hereditary leiomyomatosis and renal cell cancer (HLRCC).
• Birt-Hogg-Dubé syndrome (BHD).
• Hereditary papillary renal cancer (HPRC).

Hereditary and non-inherited kidney cancers differ in several ways.

• Hereditary kidney cancer is often diagnosed at an earlier age than sporadic kidney cancer.
• Some types of hereditary kidney cancer can be more or less aggressive than sporadic kidney cancer.
• The treatments for hereditary kidney cancer may differ from treatments for sporadic kidney cancer.
• People with hereditary kidney cancer may have a higher risk of other conditions or types of cancer.

Has your mother or sister had breast cancer? Does your mother, father, sister, or brother have diabetes? Did your mother, father, brother, or sister have colorectal (colon) cancer before age 50? If you answered “yes,” you are more likely to get the same disease as your parent or sibling and should consider earlier screening. Talk to your doctor about when to start screening and what other steps to take to prevent the disease or find it early. Finding disease early can often mean better health in the long run.

Did you know that Thanksgiving is also National Family History Day? Even if you don’t have a parent or sibling with cancer or diabetes, you might be more likely to get a disease if other people in your family have or had the disease. However, having a family health history of a disease doesn’t mean that you will definitely get it. Knowing your family health history risk can help you—if you act on it. Collecting your family health history is an important first step. Whether you know a lot about your family health history or only a little, take time to talk to your family about their health histories at family gatherings this holiday season. It might not be easy. Your family members might not be used to talking about their diseases or might not want to talk. But starting the conversation is important. Remember, you’re asking not just for your own health, but for the health of everyone in your family.

How to Collect Your Family Health History

• Talk to your family. Write down the names of your close relatives from both sides of the family: parents, siblings, grandparents, aunts, uncles, nieces, and nephews. Talk to these family members about what conditions they have or had, and at what age the conditions were first diagnosed. You might think you know about all of the conditions in your parents or siblings, but you might find out more information if you ask.
• Ask questions. To find out about your risk for chronic diseases, ask your relatives about which of these diseases they have had and when they were diagnosed. Questions can include:
  • Do you have any chronic diseases, such as heart disease or diabetes, or health conditions, such as high blood pressure or high cholesterol?
  • Have you had any other serious diseases, such as cancer or stroke? What type of cancer?
  • How old were you when each of these diseases or health conditions was diagnosed? (If your relative doesn’t remember the exact age, knowing the approximate age is still useful.)
  • What is your family’s ancestry? From what countries or regions did your ancestors come to the United States?
  • What were the causes and ages of death for relatives who have died?
• Record the informationand update it whenever you learn new family health history information.
• Share family health history information with your doctor and other family members. If you are concerned about diseases that are common in your family, talk with your doctor at your next visit. Even if you don’t know all of your family health history information, share what you do know. Family health history information, even if incomplete, can help your doctor decide which screening tests you need and when those tests should start.

If you have a medical condition, such as cancer, heart disease, or diabetes, be sure to let your family members know about your diagnosis. If you have had genetic testing done, share your results with your family members. If you are one of the older members of your family, you may know more about diseases and health conditions in your family, especially in relatives who are no longer living. Be sure to share this information with your younger relatives so that you may all benefit from knowing this family health history information.

How to Act on Your Family Health History

Knowing about your family health history of a disease can motivate you to take steps to lower your chances of getting the disease. You can’t change your family health history, but you can change unhealthy behaviors, such as smoking, not exercising or being active, and poor eating habits. Talk with your doctor about steps that you can take, including whether you should consider early screening for the disease. If you have a family health history of disease, you may have the most to gain from lifestyle changes and screening tests.

What you can do if you have a family health history of

• Colorectal cancer: If you have a mother, father, sister, brother, or other close family member who had colorectal cancer before age 50 or have multiple close family members with colorectal cancer, talk to your doctor about whether you should have screening starting at a younger age, being done more frequently, and using colonoscopy only instead of other tests. In some cases, your doctor may recommend that you have genetic counseling, and a genetic counselor may recommend genetic testing based on your family health history.
• Breast or ovarian cancer: If you have a parent, sibling, or child with breast cancer, talk to your doctor about when you should start mammography screening. If your relative was diagnosed with breast cancer before age 50, if you have a close relative with ovarian cancer, or if you have a male relative with breast cancer, your doctor might refer you for cancer genetic counseling to find out if genetic testing is right for you. In some cases, your doctor might recommend taking tamoxifen, raloxifene, or aromatase inhibitors, drugs that can decrease risk of developing breast cancer in some women.
• Heart disease: If you have a family health history of heart disease, you can take steps to lower your chances of getting heart disease. These steps can include eating a healthy diet, being physically active, maintaining a healthy weight, not smoking, limiting your alcohol use, having any screening tests that your doctor recommends, and, in some cases, taking medication.
• Diabetes: If your mother, father, brother, or sister has type 2 diabetes, you could have prediabetes and are more likely to get type 2 diabetes yourself. But there are important steps you can take to prevent type 2 diabetes and reverse prediabetes if you have it. Take this test to find out if you could have prediabetes. Ask your doctor whether you need earlier screening for diabetes. Find out more about the National Diabetes Prevention Program’s lifestyle change program and how to find a program near you. Take the Family Health History Quiz to learn more about family health history and diabetes, and learn how to prevent type 2 diabetes.
• Osteoporosis: This is a medical condition where bones become weak and are more likely to break. A family health history of osteoporosis is one of a number of factors that make you more likely to develop osteoporosis. For example, if you are a white woman whose mother or father fractured a hip, talk to your doctor about screening for osteoporosis earlier (at about age 55, compared with age 65 for most women). You can use the FRAX Risk Assessment tool to learn if you should be screened.
• Hereditary Hemochromatosis: Hereditary hemochromatosis is a disorder in which the body can build up too much iron and can lead to serious liver damage and other problems. If you have a brother or sister with hemochromatosis, you may be more likely to develop the condition yourself. Talk to your doctor about testing for hemochromatosis and whether you should take steps to lower the amount of iron in your body.

Genetic professionals work as members of health care teams providing information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.

What are genetic professionals?

Genetics professionals are health care professionals with specialized degrees and experience in medical genetics and counseling. Genetics professionals include geneticists, genetic counselors and genetics nurses.

What is genetic counseling and evaluation?

Genetic professionals work as members of health care teams providing information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. Genetic professionals:

• Assess the risk of a genetic disorder by researching a family's history, evaluating medical records, and conducting a physical examination of the patient and other family members when indicated.

• Weigh the medical, social and ethical decisions surrounding genetic testing.

• Provide support and information to help a person make a decision about testing.

• Interpret the results of genetic tests and medical data.

• Provide counseling or refer individuals and families to support services.

• Serve as patient advocates.

• Explain possible treatments or preventive measures.

• Discuss reproductive options.

How do I find a genetic professional?

Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic.

As more has been learned about genetics, genetic professionals have grown more specialized. For example, they may specialize in a particular disease (such as cancer genetics), an age group (such as adolescents) or a type of counseling (such as prenatal).

How do I decide whether to see a geneticist?

Your health care provider may refer you to a geneticist - a medical doctor or medical researcher - who specializes in your disease or disorder. A medical geneticist has completed a fellowship or has other advanced training in medical genetics. While a genetic counselor or genetic nurse may help you with testing decisions and support issues, a medical geneticist will make the actual diagnosis of a disease or condition. Many genetic diseases are so rare that only a geneticist can provide the most complete and current information about your condition.

Along with a medical geneticist, you may also be referred to a physician who is a specialist in the type of disorder you have. For example, if a genetic test is positive for colon cancer, you might be referred to an oncologist. For a diagnosis of Huntington disease, you may be referred to a neurologist.