Genetics' role in breast cancer

DNA is the genetic ?blueprint? found in the center of each cell that affects inherited traits such as hair color, eye color and height. It also can affect whether a person is likely to develop certain diseases, such as cancer.

Michael Pierce, director of the Cancer Center at the University of Georgia and the Mudter Professor in Cancer Research, believes that through genetic research and testing, doctors won?t have to treat cancers in a ?one size fits all? kind of way.

Genetic researchers continue to look at how traits are passed down from parents to children through genes in an effort to understand the hereditary link between cancer and the sequence of mutations in a persons genes.

With that information, they hope to make new medications that can block or kill cancer in the future.

?Blasting a patient with a toxic drug that kills any cells that are dividing rapidly is a sledge hammer approach that we?ve done for years, and until we identify all of these genes and make (new) drugs, (that approach is) going to continue to happen,? Pierce said.

Genetic testing shows changes, or mutations, in a person?s genes or chromosomes. If a doctor understands a patient?s cancer mutations, he or she might be able to treat the cancer with a specific drug or a combination of drugs that will attack that specific cancer.

One example Pierce sited is the drug Gleevec that?s used to treat people diagnosed with chronic myelogenous (or myeloid) leukemia (CML). CML occurs when one chromosome breaks off and attaches itself to another chromosome during normal cell division.

Each cell contains an enzyme that?s normally tightly regulated and only is ?turned on? for a short period of time in white blood cells.

When the cell overproduces the enzyme, it can lead to cancer.

Gleevec is a pill that finds the enzyme in the cells that is being overproduced and shuts it down, creating a type of cure and allowing people to live a normal life for many years.

?That?s an example of a mutation and a drug to kill that mutation. It?s an effective approach,? Pierce said. ?Patients have to take the drug for the rest of their life because it?s not curing the mutation, and it?s not fixing the chromosomal problem, but the drug keeps treating it.?

CML is an exception right now.

?The goal is to look at people?s genes when they have cancer, find the mutation and match it up with a drug that stops that mutation,? Pierce said.

Another treatment is monoclonal antibody therapy that is used to specifically attack a type of cancer cell.

Fifteen years ago, a woman diagnosed with HER2-positive breast cancer was thought to have a very aggressive breast cancer and her survival rate was less than five years.

Through genetic research, a specific molecule on the surface of the cell has been identified, and Herceptin, a targeted antibody, has been created to attack the molecule on the cell surface.

Herceptin now is a successful treatment of HER2-positive breast cancer.

Cancer vaccines, such as the one marketed to help prevent HPV, are another positive solution in the fight against cancer.

?Oral HPV is the fastest growing cancer in the U.S. right now, and it can be fought with a vaccine if people get it,? Pierce said. ?There?s promising research on the horizon (to develop vaccines for other cancers). It?s not all being done in the U.S., but there?s some promising research out there.?

The most important line of defense when it comes to cancer is early detection.

Molly Klein is the director of Piedmont Clinical Genetics and a board certified genetic counselor in Atlanta, and travels to Athens Regional Medical Center once a month to provide genetic testing and counseling to Athens-area residents.

Cancer-related genetic tests are done mostly for predictive reasons and are used to see if a person has a certain genetic mutation known to increase the risk for a certain condition or disease, such as cancer, or to confirm a suspected mutation in an individual or family.

?If a person tests positive for a mutation, we review national guidelines for medical management, which includes high-risk screening and potential surgical intervention,? Klein said. ?If they test negative, we look at the family history to determine if something hereditary is going on.?

There are a number of inherited predispositions to various cancers that are now better understood because researchers can sequence all of the mutations in a person?s genes. This is how the BRCA 1 and BRCA 2 genes related to breast and ovarian cancers were discovered.

?With sequencing, I think we?re going to find more genes that we can say are risk factors for particular kinds of cancers and be able to trace them,? Pierce said. ?Without knowing you have a familial component to cancer, people may not get tested early, and early detection is key. Almost every cancer can be treated successfully if it?s found early enough. If we get better at early diagnosis, that?s going to accelerate successful treatments that we can bring to cancers.?

In the example of breast cancer, a negative test result for the breast cancer gene rules out only two genes, so people still should check into their family history.

?The family history is the golden rule,? Klein said. ?When we look at the family history, and it looks like (there?s a hereditary link there), we talk about high-risk breast cancer screening and if they might be candidates for it. If they are a candidate, we refer them to a breast surgeon,? Klein said.

?People who are proactive about their health care benefit from knowing their family history and potential genetic testing results because they will know how to take care of themselves, and their doctors will know if they need to be managed as a high-risk patient, and also can provide predictive information for additional family members, such as children and grandchildren,? Klein said. ?It never hurts to ask questions, and I encourage people to be proactive in seeking out that information because it could impact their health.?

? Follow faith, health and Blueprint reporter April Burkhart at www.facebook.com/AprilBurkhartABH.

Source: http://onlineathens.com/health/2012-10-29/genetics-role-breast-cancer

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