Familial Colon Cancer

The RCRS Inherited Colorectal Cancer Clinic

The RCRS Inherited Colorectal Cancer Clinic welcomes you to our website. If you or a family member has been affected by inherited colorectal cancer, we invite you to learn more about the different forms of inherited colon cancer, associated genetics, diagnostic and treatment options. Through timely screening and surveillance inherited colorectal cancer is preventable and curable.

What is The RCRS Inherited Colorectal Cancer Clinic?

The RCRS Inherited Colorectal Cancer Clinic consists of a team of board-certified colorectal surgeons and genetic counselors who have not only received expert training but also have a personal interest in inherited colorectal cancer syndromes.

Our goals are:

  • To act as patient advocates
  • To identify patients that may be at high risk for colorectal cancer by virtue of their family history
  • To educate such patients and their families of their risks
  • To help select adequate screening, genetic testing, and timely therapy
  • To prevent death from inherited colorectal cancer by providing expert care to patients and their families.
  • To promote knowledge and provide resources to referring physicians.

Outpatient screening and counseling for patients and families that are at high risk for inherited colorectal cancer

The RCRS Inherited Colorectal Cancer Clinic will give patients and their families the opportunity to discuss and help diagnose inherited colorectal cancer syndromes in the outpatient setting. Patients will be given the opportunity to meet with a board-certified colorectal surgeon who has a special interest in hereditary colorectal cancer syndromes, discuss possible risk factors, learn about diagnostic and treatment options and set up genetic counseling when appropriate.

What is “Inherited Colorectal Cancer”?

Approximately 130,000 Americans are diagnosed with colorectal cancers each year. Colorectal cancer develops when genes that control cell growth are mutated (damaged). In most cancer cases the gene damage (mutation) is associated with aging, environmental factors and/ or diet. However, in about 5-10 percent of patients with colorectal cancer, a gene mutation has been passed from a parent to their offspring – causing inherited colorectal cancer.
Inherited colorectal cancer is suspected when colorectal cancers occur in multiple generations of a family. Colorectal cancers and polyps occur typically at a young age. Also, other organs outside the colon may be affected. Through studies of a patient’s family tree, inherited colorectal cancer syndromes can be documented and analyzed. The inherited colorectal cancer syndromes include:
Familial Adenomatous Polyposis (FAP) and
Hereditary Non-polyposis Colorectal Cancer (HNPCC)

Gene testing for people at risk for the development of inherited colorectal cancer syndromes is available. Gene tests help patients and doctors to make an early diagnosis. Gene testing also helps physicians to recommend appropriate medication, prevention strategies, surveillance and treatment options.

Learn more about colorectal cancer genetics

Genes are made of DNA. Genes come in pairs and carry specific information (codes) that control how our body is built. Each gene provides the formula for protein construction. Proteins have different jobs assigned: some determine our eye color, our height. Others regulate and prevent cancer development.

Damaged Genes – Gene mutations

Mutated (damaged) genes may result in anomalous proteins. The anomalous protein may still be able to work to some degree, and the resultant disease may be mild. However, if the mutated genes have lost their ability to produce a protein or they produce a protein that cannot do its job, the disease may be severe, and e.g. colon cancer develops

Inheritance of gene mutations

Through a sperm or an egg, a parent passes only one of the two copies of each gene on to the fetus. The genes passed on are reproduced in every cell in the baby’s body. If a parent has one mutated and one normal gene there is a 50 percent chance of passing the damaged gene onto the child. If passed on, the child’s gene is damaged and may predispose the child to certain diseases, such as cancer.
It is possible that the genes of the parents are normal. Gene damage can occur at the moment when a sperm fertilizes an egg. If this happens, even though the parent’s genes are normal and functioning well, the child will have damaged genes. This new mutation can be passed on from generation to generation.
In FAP and HNPCC a person inherits a normal gene from one parent and a damaged gene from the other parent or acquires a damaged gene at conception. All the cells will then contain one normal and one abnormal gene. Eventually, the normal gene may become damaged too. When there are two damaged genes, the cells are not under normal control any longer and cancer develops.

Therapy/ Prevention

Currently, there is no gene therapy available for HNPCC or FAP. However, using adequate diagnostic tests along with appropriate treatment helps to prevent colorectal cancer in patients with inherited colorectal cancer syndromes.

Other resources:

Juvenile Polyposis

Peutz-Jegher’s Syndrome

Attenuated FAP

 

For further questions please contact us or schedule a consultation.