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    Newborn Screening Unit
    Genetic Services
    PO Box 149347, MC-1918
    Austin, Texas 78714-9347

    Fax: 512-776-7593
    Toll-free: 800-252-8023


Cancer Genetics

Cancer genetics is the study of the contribution of genetics to an individual’s risk for cancer.  Approximately one in three people will develop cancer in their lifetime.  Many factors can influence a person’s risk for developing cancer, such as:

  • Age,
  • Tobacco use,
  • Obesity,
  • Nutrition,
  • Chemicals,
  • Radiation,
  • Infectious organisms and/or
  • Genetics. 

Some of these risk factors can be modified through lifestyle; however some factors cannot be changed.

Approximately 5-10% of all cancers are caused by inherited gene mutations that predispose people to developing cancer.  These gene mutations are typically passed down through the generations; therefore, knowledge of the family history is very important.

Characteristics of a family history that increase the chances of hereditary cancer are:

  • Cancer at a young age,
  • The same cancer occurring in multiple family members,
  • Multiple cancers occurring in one person, and/or 
  • Breast or ovarian cancer in the context of Ashkenazi (Eastern European) Jewish ancestry.

There are genetic tests available for some cancers that can explain if personal and/or family history is due to an inherited gene mutation.  If a person has a gene mutation related to cancer predisposition, they are at an increased risk for developing cancer and should undergo increased cancer surveillance.  If a person has a normal gene test result, their risk for cancer may be reduced; however, they may still be at an increased risk.  We have more than 20,000 genes and it is possible that the specific gene causing your family history of cancer has not been discovered.  In this case, people with a normal gene test result may still be recommended to have increased surveillance.  Therefore, it is important that a board certified genetics specialist provide a hereditary cancer risk assessment prior to genetic testing and interpret the results of a genetic test.

Statistics - American Cancer Society

Hereditary Breast Cancer

One in eight women (12.5%) will develop breast cancer in their lifetime.  A number of genes have been discovered that when mutated or changed can increase a person’s risk of breast cancer.  The BRCA1 and BRCA2 genes account for more than half of hereditary breast cancer.  Other genes, including p53, PTEN, CHEK2, ATM and other undiscovered genes have also been implicated in hereditary breast cancer.  A gene mutation can increase a person’s risk for different types of cancers.  While the BRCA genes are most known for their breast cancer risk, they also increase the risk for ovarian, prostate and pancreatic cancer, among others.  TP53 gene mutations cause a condition called Li-Fraumeni Syndrome and are associated with an increased risk of a variety of cancers including sarcoma, breast, brain, leukemia, and adrenal gland cancers, among others.  A PTEN gene mutation causes Cowden Syndrome, which is associated with benign and malignant tumors of the thyroid, breast, and uterus as well as abnormal skin growths.  There are a number of screening tools available to detect breast cancer at an early stage.  Currently, it is recommended that people at increased risk for breast cancer have mammogram surveillance, as well as breast MRI.

Indications for a genetics evaluation for hereditary breast cancer include:

A personal history of:

  • Breast cancer before the age of 50 or ovarian cancer at any age,
  • Bilateral breast cancer or two or more primary cancers of the breast,
  • Breast and ovarian cancer in the same individual, and/or
  • Breast cancer in a male.

A maternal or paternal family history of:

  • Two or more people in the family with breast and/or ovarian cancer,
  • One or more close male relatives with breast cancer,
  • Early onset breast or ovarian cancer (before age 50) in a close relative, and/or
  • Confirmed genetic mutation in a relative.

* People who belong to certain ethnic groups, such as those of Ashkenazi Jewish descent, are more likely to have a BRCA gene mutation.  Therefore, some individuals may be appropriate candidates for genetic testing even if they have less striking personal or family history of breast and/or ovarian cancer.


Genetic Testing for Breast and Ovarian Cancer Risk

Genetics of Breast and Ovarian Cancer

Local and national support groups for Hereditary Breast and Ovarian Cancer.

Hereditary Colon Cancer

The lifetime risk for developing colorectal cancer is about 1 in 19 (5.4%).  A number of factors can increase a person’s risk for developing colon cancer and can include:  age, diet, obesity, physical inactivity, smoking, alcohol, history of ulcerative colitis or Crohn’s disease, and family history.  Approximately 5% of people with colon cancer have an inherited susceptibility to the disease.  Two genetic conditions that can increase a person’s risk for colon cancer are Familial Adenomatous Polyposis (FAP) and Hereditary Non-Polyposis Colon Cancer (HNPCC). 

FAP is caused by mutations in the APC and MYH genes.  It causes a person to develop many, often thousands, of polyps in their colon.  A polyp is a mushroom-like growth in the colon that can be cancerous.  If left untreated a person with FAP has nearly a 100% chance of developing colon cancer.

HNPCC is also often called Lynch Syndrome.  Lynch Syndrome is caused by mutations in a number of genes, including MLH1, MSH2, MSH6 and PMS2.  Individuals with Lynch Syndrome do not develop as many polyps as in FAP; however they still have an increased risk of colon cancer.  Lynch Syndrome also increases a person’s risk of uterine, ovarian, stomach and other cancers.  Colonoscopy is a screening tool to detect and remove polyps in the colon.  It is important that people at increased risk for colon cancer have an increased frequency of colonoscopies to screen for colon cancer.

Indications for a genetics evaluation 

A personal or family history of:

  • Colon cancer before the age of 45,
  • Pre-cancerous polyps before the age of 40,
  • More than 20 pre-cancerous polyps,
  • Uterine cancer before the age of 45,
  • Three or more people in the family with colon, uterine, stomach or ovarian cancer,
  • Confirmed genetic mutation in a relative,
  • Genetics of Colon Cancer.

Von Hippel Lindau Syndrome

Von Hippel Lindau Syndrome (VHL) is a genetic condition which predisposes an individual who has this condition to a variety of tumors.  The most common tumors seen in VHL include: hemangioblastomas of the retina/brain/spine, pheochromocytoma tumors of the adrenal gland, and kidney cancer of the clear cell type.  A hemangioblastoma is a benign tumor involving blood vessels.  It is important to promptly diagnose VHL because while most of the tumors are benign (non-cancerous), their presence can cause serious problems.  For example, retinal hemangioblastomas can cause vision loss and even blindness.  Pheochromocytomas (pheo) are also typically benign, however can cause uncontrollable high blood pressure.  Other tumors include: endolymphatic sac tumors of the inner ear, benign kidney and pancreatic cysts, and benign tumors of the reproductive tract.  VHL is caused by mutations in the VHL gene.   If a parent has VHL then each of their children has a 50% chance of also having VHL.

Additional information.

Multiple Endocrine Neoplasia Type 1 (MEN1)

MEN1 is a condition that causes a person to develop tumors in their endocrine glands, primarily involving the parathyroid, pancreas and pituitary gland, as well as other characteristic tumors.  MEN1 is caused by a mutation in the MEN1 gene.

The most common tumors to develop in MEN1 are those involving the parathyroid glands.  Nearly 100% of people with MEN1 will develop parathyroid tumors in some or all of the parathyroid glands by the age of 50 years.  These tumors are typically benign (not cancerous), however cause health problems because of the excessive hormones they produce.  Parathyroid tumors produce increased amounts of parathyroid hormone, causing hyperparathyroidism.  Excess parathyroid hormone causes calcium to be moved from the bone to the blood.  Elevated levels of calcium in the blood are called hypercalcemia.  This can cause the bones to become weak (osteoporosis), kidney stones to develop, and the person to feel fatigued.

People with MEN1 can also develop tumors in the pancreas.  Pancreatic tumors in MEN1 are named after the hormone they produce, with gastrinoma and insulinoma tumors being the most common.  A gastrinoma produces excess gastrin and can cause ulcers, reflux, and diarrhea.  These symptoms are called Zollinger-Ellison Syndrome (ZES).  Gastrinomas can also occur in the duodenum and can be malignant (cancerous).  An insulinoma produces excess insulin and causes hypoglycemia (low blood sugar).  Insulinomas are almost always benign.

Pancreatic Tumors.

The pituitary tumors found in MEN1 are also named after the hormone they produce, with prolactinoma being the most common.  A prolactinoma produces excess prolactin.  It can cause menstrual irregularity in women and reduced libido in men.  Pituitary tumors can cause other symptoms such as headache and changes in vision, by pressing on nearby structures in the brain.  Pituitary tumors in MEN1 are typically benign. 

Other Tumors in MEN1

Less often, people with MEN1 will develop carcinoid or adrenocortical tumors.  Carcinoid tumors occur in the thymus gland or lung and can be malignant.  Adrenocortical tumors occur in the adrenal gland and are typically benign.  Non-endocrine, benign tumors may also develop, such as facial angiofibromas, collagenomas, and lipomas.

Summary of Cancer Risks in MEN1

In MEN1, the highest risks for cancer are tumors in the pancreas, duodenum, and carcinoid tumors.

*MEN1 should not be confused with a condition called MEN2.  While MEN1 and MEN2 are similar in that they both predispose people to develop tumors of the endocrine glands, they are two completely different conditions.*

Multiple Endocrine Neoplasia Type 2 (MEN2) & Medullary Thyroid Cancer

MEN2 is a condition that causes a person to develop tumors in their endocrine glands, including the thyroid, parathyroid and adrenal glands. 

People with MEN2 are at risk of developing a specific type of thyroid cancer called medullary thyroid cancer.  The age of onset varies, and may occur in young children.

In MEN2, the tumors that develop in the adrenal and parathyroid glands are typically benign (not cancerous), but can cause serious health problems because of the excessive hormones they produce.  Tumors can develop in the adrenal gland called pheochromocytoma (pheo).  These tumors produce excessive amounts of hormones called catecholamines (such as adrenaline), which can cause a person to have very high blood pressure.

People with MEN2 can also develop tumors in the parathyroid glands that produce excessive amounts of parathyroid hormone.  This is called hyperparathyroidism.  Excess parathyroid hormone causes calcium to be moved from the bone to the blood.  Elevated levels of calcium in the blood are called hypercalcemia.  This can cause the bones to become weak (osteoporosis) and kidney stones to develop.

25% of all people diagnosed with medullary thyroid cancer have the hereditary form caused by mutations in the RET gene.  Most of these people have a family history of medullary thyroid cancer, however sometimes they do not.

Types of MEN2

MEN2 is classified into types based on the family history and the specific RET gene mutation identified: MEN2A and MEN2B. Familial Medullary Thyroid Cancer (FMTC) is grouped with MEN2 because it is also caused by RET gene mutations. MEN2A is the most common type of MEN2. There is a very high risk of medullary thyroid cancer in MEN2A. The typical age of onset is in young adulthood. About 50% of people with MEN2A will develop a pheochromocytoma and about 25% will develop hyperparathyroidism.

MEN2B is the most aggressive form of MEN2 with medullary thyroid cancer developing in early childhood. About 50% of people with MEN2B will develop a pheochromocytoma, however hyperparathyroidism is uncommon. Individuals with MEN2B can also develop benign nodules on their lips and tongue, abnormalities of the gastrointestinal tract, and usually are tall in comparison to their family members.

Familial Medullary Thyroid Cancer occurs when there is a family history of medullary thyroid cancer and no other characteristics of MEN2 in the family. Onset of medullary thyroid cancer is typically in middle age.

*MEN2 should not be confused with a condition called MEN1. While MEN1 and MEN2 are similar in that they both predispose people to develop tumors of the endocrine glands, they are two completely different conditions.

Additional information.


Retinoblastoma is a tumor of the developing retina (part of the inner eye) that occurs in children.  Most of these tumors occur before the age of five and many are present at birth.  Tumors can be unilateral (present in only one eye) or bilateral (present in both eyes).  Approximately 60% of patients have unilateral retinoblastoma and 40% have bilateral retinoblastoma.

Retinoblastoma is caused by mutations in the RB1 gene.  The mutation often occurs after birth (usually presents as unilateral retinoblastoma in these cases), but is sometimes hereditary (often presents with tumors in both eyes)In hereditary retinoblastoma, RB1 gene mutations are either “passed down”from a parent or they occur very early in the development of the child.  When a child with hereditary retinoblastoma grows up, his or her children will each have a 50% chance of inheriting the same gene mutation and developing retinoblastoma.  If it is not hereditary, the risk to future generations is quite low. 

In addition to eye tumors, children with hereditary retinoblastoma are at increased risk for other types of cancer or tumors.  These include rare tumors of the pineal gland (a gland found in the brain), and cancers of bone, soft tissue, and skin.  Exposure to radiation greatly increases the risk of developing secondary tumors.  For this reason, it is important to identify children at risk for retinoblastoma and other tumors as early as possible so that damage can be prevented.

Genetic testing of the RB1 gene is available and about 80% of mutations in the RB1 gene can be detected at this point.  It is important to remember that a negative genetic testing result does not rule out hereditary retinoblastoma, as some mutations are not detectable at this time.  Patients with bilateral retinoblastoma are assumed to have the hereditary form of this condition, although finding the specific mutation is not always possible.  10-17% of patients with unilateral retinoblastoma also have the hereditary form.  If a mutation is identified in a person, it is important to determine if other family members are at risk.  Early testing and recognition of people at high risk for retinoblastoma may allow for timely intervention and improved outcome.  Using a variety of current treatments, preservation of sight in retinoblastoma patients is now possible.

Additional information.

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Last updated February 26, 2021