Common Reasons for Referral

About four out of 10 people have a personal or family history of at least one of the common conditions of adulthood (cancer, heart disease, etc). For some, this may be due to an inherited risk. Signs of inherited risk include:

  • Developing the disease at an early age, such as heart disease before age 65 in women and before age 55 in men, and cancers before age 50
  • Having two or more family members with the same disease, especially if one or more had an early age of onset
  • Having more than one type of cancer in a family member such as breast and ovarian cancer, or colon and endometrial cancer
  • Having a disease, such as heart disease, diabetes or stroke, when there are no obvious risk factors

We give personalized genetic risk information, helping our patients and their doctors decide how best to manage or prevent disease, including:

  • Methods to identify disease early, when treatment may be maximized
  • Finding and possibly treating specific genetic risk factors to prevent a disease
  • Ways to prevent cancer, diabetes, cardiovascular and other diseases
  • Finding a genetic risk so other family members can know their own risk

  A personal or family history of diseases such as those listed below, may be reason to come to the GenRISK Adult Genetics Program.
 

 

Cancer - Breast

Breast cancer is the most common cancer among women. In most cases, the cause is unknown. For one in 10 women with breast cancer, an inherited risk may be involved. Genetic risk assessment for breast cancer should be considered if a person has at least one of these:

  • A diagnosis of breast cancer before the age of 50
  • A diagnosis of two separate breast cancers (cancer)
  • A diagnosis of breast cancer and another cancer, such as ovarian, pancreatic, colon, thyroid, stomach or melanoma
  • Family members with any of the above
  • A male relative diagnosed with breast cancer
  • A diagnosis of breast cancer and Ashkenazi Jewish ancestry

An inherited risk of breast cancer is often part of a broader hereditary cancer diagnosis including:

  • Hereditary site-specific breast cancer syndrome
  • Hereditary breast/ovarian cancer syndrome
  • Cowden syndrome
  • Li-Fraumeni syndrome
  • Peutz-Jeghers syndrome
  • Breast-colon or Muir-Torre syndrome

Each of these diagnoses are due to a gene mutation that increases the risk for breast cancer, as well as risks for other cancers. The cancer risks depend on the specific diagnosis and gene involved. The BRCA1 and BRCA2 genes are the most common breast cancer susceptibility genes. Mutations in the BRCA1 gene increase the risks for breast, ovarian, colon, and prostate cancer. BRCA2 gene mutations increase the risk of breast cancer in both men and women, as well as ovarian, pancreatic, and prostate cancer and melanoma.

Genetic risk assessment and, in many cases, genetic testing can be used to diagnose an inherited form of breast cancer. If a diagnosis is confirmed then specific screening and prevention strategies can be recommended.

 

Cancer - Ovarian

About one in 70 American women will develop ovarian cancer. In most instances the cause is unknown. One in 10 women with ovarian cancer may have inherited a predisposition to their disease. Genetic risk assessment for ovarian cancer should be considered if a woman has:

  • Ovarian cancer and is of Ashkenazi Jewish ancestry
  • Ovarian cancer and another cancer, such as breast, pancreatic, melanoma, colon or stomach
  • Family members with any of the above
  • Male relatives with breast cancer

An inherited risk of developing ovarian cancer is often part of a broader hereditary cancer diagnosis including:

  • Hereditary site-specific ovarian cancer
  • Hereditary breast/ovarian cancer syndrome
  • Hereditary nonpolyposis colon cancer syndrome (HNPCC)
  • Gorlin syndrome
  • Peutz-Jeghers syndrome

Each of these diagnoses may be due to a gene mutation that increases the risk for ovarian cancer as well as risks for other cancers. The cancer risks depend on the specific diagnosis and gene involved. The BRCA1 and BRCA2 genes are the most common ovarian cancer susceptibility genes. Mutations in the BRCA1 gene increase the risks for breast, ovarian, colon, and prostate cancer. BRCA2 gene mutations increase the risk of breast cancer in both men and women, as well as ovarian, pancreatic, and prostate cancer and melanoma. HNPCC is due to mutations in DNA mismatch repair genes. At least five of these genes are known. In addition to an increased ovarian cancer risk, there are increased risks for colon, uterine, stomach, bile duct and urinary tract cancers.

Genetic risk assessment and, in many cases, genetic testing can be used to diagnose an inherited form of ovarian cancer. If a diagnosis is confirmed then specific screening and prevention strategies can be recommended.

 

Cancer - Colon

One in 17 Americans will develop colon cancer during his or her lifetime. Usually the cause is unknown. One in 10 people with colon cancer may have a genetic predisposition to their disease. Genetic risk assessment should be considered if a person has:

  • A diagnosis of colon cancer before the age of 50
  • A diagnosis of colon cancer and another cancer, such as uterine, ovarian or stomach
  • A history of colon polyps before age 40
  • Family members with any of the above

Hereditary colorectal cancer may be due to several syndromes

  • Hereditary nonpolyposis colon cancer syndrome (HNPCC, also known as Lynch syndrome)
  • Muir-Torre syndrome
  • Turcot syndrome
  • Peutz-Jeghers syndrome
  • Juvenile polyposis
  • Familial adenomatous polyposis (FAP)

Each of these diagnoses may be due to a gene mutation that increases the risk for colon cancer as well as risks for other cancers. The cancer risks depend on the specific diagnosis and gene involved. HNPCC is the most common form of inherited colon cancer. It is due to mutations in DNA mismatch repair genes. At least five of these genes are known. In addition to an increased colon cancer risk, there are increased risks for uterine, ovarian, stomach, bile duct and urinary tract cancers. Muir-Torre syndrome is HNPCC related cancers with specific skin findings. In Turcot syndrome, is HNPCC related cancer with brain tumors. Muir-Torre and Turcot syndrome are also due to mismatch repair gene mutations. FAP is the next most common form of inherited colon cancer. It is due to mutations in the APC gene. The other cancer risks in FAP include cancers of the thyroid, small intestine, stomach, adrenal glands and sometimes central nervous system and liver.

Genetic risk assessment and, in many cases, genetic testing can be used to diagnose an inherited form of colon cancer. If a diagnosis is confirmed then specific screening and prevention strategies can be recommended.

 

Cancer - Endometrial (Uterine)

Endometrial cancer is the fourth most common malignancy among women in the United States with an estimated 47,000 new cases diagnosed in 2012 and an estimated 8,000 deaths as a result of diagnosis in the same period.  In most instances the cause is unknown. One in 10 women with uterine cancer may have a genetic predisposition to their disease. Genetic risk assessment should be considered if a woman has::

  • Uterine cancer before the age of 50
  • Uterine cancer and another cancer, such as colon, ovarian, stomach or bile duct
  • A history of colon polyps before age 40
  • Family members with any of the above

About 50 to 70% of hereditary uterine cancers are linked to the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome, also known as Lynch syndrome. This syndrome is due to mutations in DNA mismatch repair genes. At least five of these genes are known. In addition to an increased uterine cancer risk, there are increased risks for colon, ovarian, stomach, bile duct and urinary tract cancers.

Genetic risk assessment and, in many cases, genetic testing can be used to diagnose an inherited form of uterine cancer. If a diagnosis is confirmed then specific screening and prevention strategies can be recommended.

 

Cancer - Brain

Brain tumors are the second most common childhood malignancy and the eighth most common adult cancer. The location and type of brain tumor can vary. In most instances the cause is unknown. Some people with brain tumors may have an inherited predisposition to their disease. Genetic risk assessment for brain tumors should be considered if a person has:

  • Been diagnosed with a brain tumor at an early age
  • Been diagnosed with a brain or spinal cord tumor and another cancer, such as kidney, sarcoma, colon or breast
  • Family members with any of the above

An inherited predisposition to brain tumors may be part of a broader hereditary cancer diagnosis, such as:

  • Neurofibromatosis
  • von Hippel-Lindau disease
  • Li-Fraumeni syndrome
  • Turcot syndrome
  • Tuberous sclerosis

Each of these diagnoses may be due to a gene mutation that increases the risk for other cancers as well as other conditions. The cancer risks depend on the specific diagnosis and gene involved. Genetic risk assessment and testing can be used to diagnose these syndromes. If a diagnosis is confirmed then specific screening and prevention strategies can be recommended.

 

Cancer - Prostate

Prostate cancer is the most common malignancy affecting American men, with more than 175,000 cases diagnosed each year. Risk factors for prostate cancer include family history, older age and African-American ancestry. Genetic risk assessment should be considered if a person has:

  • A diagnosis of prostate cancer before the age of 55
  • Many family members with prostate cancer in many generations
  • A diagnosis of prostate cancer and has a family history of breast and/or ovarian cancer

These are several syndromes that are associated with hereditary prostate cancer, such as:

  • The hereditary site-specific prostate cancer syndrome (many genes are associated, but no genetic tests are available)
  • The hereditary breast/ovary syndrome (due to the BRCA1 and BRCA2 genes)
  • The hereditary site-specific breast cancer syndrome (due to the BRCA1 and BRCA2 genes)

Genetic risk assessment and, in some cases, genetic testing can be used to diagnose these syndromes. If a diagnosis is confirmed then specific screening and prevention strategies can be recommended.

 

Coronary Heart Disease (CHD)

Coronary heart disease (CHD), due to blocked arteries of the heart, is the leading cause of death and disability in the United States. The greatest risk factor for developing this condition at an early age is a family history of CHD.
 

The condition is due to many genetic and environmental risk factors. High cholesterol is one such factor with a strong genetic basis. Others include high levels of homocysteine, lipoprotein(a), apoB, and insulin, low HDL levels, and small dense LDL cholesterol particles. Each of these risk factors is influenced by genetics, but can be improved with changes in lifestyle, vitamins or drugs.

You may better manage CHD or prevent CHD if you know your risks and the specific factors that make up your risk.

Genetic risk assessment for CHD should be considered if a person has:

  • Heart disease early (men before age 55 and women before age 65)
  • More than one artery that is (or has been) blocked
  • More than one risk factor (i.e., diabetes, high blood pressure or high cholesterol)
  • A history of heart attacks even with the best medical management
  • More than one family member (especially women) with any of the above
 

Hemochromatosis

Hereditary hemochromatosis (HHC) is one of the most common genetic diseases affecting Caucasians. One out of every 200 to 400 people is thought to carry a mutation that cause HHC. HHC is caused by the body absorbing too much iron. This causes iron to build up in the liver, skin, pancreas, heart, joints and testes. Common, early signs of this condition are stomach pain, weakness, low energy and weight loss. The condition usually is seen in men between the ages of 40 and 60 and in women after menopause. Fibrosis or cirrhosis of the liver is common in untreated people after the age of 40. People who aren't treated may also develop diabetes mellitus, congestive heart failure, an irregular heart beat, arthritis, impotence, infertility and darkening skin. Usually, however, patients come to their doctors with a low sex drive or signs of iron overload.

Patients with HHC may have some or all of these features. No one test is enough to diagnose HHC. Clinical, biochemical, histologic and molecular studies are needed. Treating iron overload is fairly simple, inexpensive, safe and effective. It is treated by regularly removing blood from the body. People with HHC need to watch their diets, avoiding iron and mineral supplements, too much vitamin C, and uncooked seafood. Avoidance of alcohol or taking too much acetominophen (Tylenol) is also important.

Genetic testing is available for HHC. It can confirm a diagnosis and specific screening and treatment strategies can be recommended that are effective in reducing the complications mentioned above.

 

Kidney Disease (e.g., Polycystic Kidney Disease)

Polycystic kidney disease, sometimes referred to as autosomal dominant polycystic kidney disease (ADPKD), is a genetic disorder that affects one person out of 1,000. People with ADPKD develop large cysts in their kidneys that can sometimes be detected prenatally and sometimes don't occur until very late in life. In many cases, these cysts lead to end-stage kidney disease that may require dialysis. About 10% of dialysis patients in the United States have ADPKD. The condition varies a lot, both within and across families. ADPKD is best diagnosed by ultrasound, which can also help monitor cyst development.

ADPKD can affect other organs, including the cardiovascular system, the brain, the gastrointestinal tract and the liver. Fifty to 75% of those with ADPKD develop high blood pressure. This can raise the risks of cardiovascular, kidney and brain complications of ADPKD. People with ADPKD have about a 9% risk of developing brain aneurysms (a blood-filled swelling of the blood vessel wall). These aneurysms can rupture and lead to stroke. Magnetic resonance angiography (MRA) can be used to identify aneurysms. To prevent stroke surgery can remove or repair the involved blood vessel.

Two genes are known to cause ADPKD (PKD1 and PKD2) and genetic testing for gene mutations is available. However, the detection rate is not 100% and other methods may be needed to confirm a diagnosis. Linkage analysis is a method that can be used. To do this type of testing, many family members are needed, including those with the disease and those who are unaffected (family members with a normal kidney ultrasound). A linkage study for ADPKD can have 95% accuracy in identifying susceptible family members.