Genetics

In 2003 the Human Genome Project was completed. And the information gained has caused a revolution of thought of how certain health conditions are diagnosed and treated. The identification of two genes connected with breast cancer has affected every decision related to breast care, from whether a woman should use a standard mammography for screening or if an MRI would be more effective, to what types of chemotherapy, radiation therapy and surgery are most appropriate for a patient identified as having a family history and therefore a higher risk of breast cancer.

"I’m Luba Djurdjinovic, and I’m the Director of the Genetic Counseling Program that’s based here in Binghamton and is part of a non-profit called The Ferre Institute and I’ve been in practice for about 30 years. We were very excited in the early 90's to learn that there were two very specific genes which we call BRCA1 and BRCA2; sometimes they’re called 'brakka 1' or 'brakka 2'. These two genes really are responsible for the majority of inherited breast and ovarian cancer. One of the major distinctions between families that have inherited cancer and families that do not is the ages of the individuals when they develop their cancer. If you have multiple family members with cancer under 60 years of age, with the same types of cancer, these are the first two indicators that the family should be talking to their doctor about 'is this representing an inherited cancer risk?'."

The question then may be what kind of action does a person take if a family history of a particular cancer is a concern.

"Initially when individuals would learn that they had an increased risk for breast or ovarian cancer because they had a spelling error in either BRCA1 or BRCA2, often it was presented to them that they might want to consider prophylactic surgeries which is a pretty challenging idea. That would mean removing the ovaries to reduce your ovarian cancer risk and the other option is removing the breast tissue and having reconstructive surgery. These are quite complicated events and you can appreciate where a genetic counselor can help someone think some of these things through. What’s exciting is over the last several years we have seen lots of interesting evidence coming to light that women who have these mutations, who have these spelling errors, might find some protective effect from having taken oral contraceptives in their young, reproductive life. We now are seeing that the MRI of the breast might be a very effective tool that might allow someone to sort of forgo some of the prophylactic surgeries and have an aggressive surveillance using MRI.

Genetic testing is also affecting what kind of treatment is given in cases when breast cancer is found.

"We’re now taking portions of the tumor from the breast," (Surgeon Michael J. Farrell) "and having a DNA analysis, and they’re looking at the genes involved with the tumor and we have a whole panel of what we call assays to assess what things are expressed in that tumor at a genetic level to help determine, you know, is this tumor more aggressive, is it less aggressive, what’s present on that and not and helping direct the therapy. Studies are currently ongoing showing how well does doing those tests compare to the old way of doing surgery on the lymph nodes to find out. I think that’s going to be the next big progression for surgery for breast cancer."

"If we identify patients that might fit the mold for considering genetic testing," (Dr. Janet Muhich), "if they have a significant family history of breast or ovarian cancer usually you see several family members diagnosed at younger ages, if people are of Ashkenazi Jewish backgrounds and here’s certain criteria we look at to decide if someone is a candidate to consider genetic testing because if we make a diagnosis of breast cancer and we think boy, this patient really might have a genetic mutation we try to get that done first because then you would counsel a patient perhaps on bilateral mastectomies instead of just treating the one breast.

(Luba Djurdjinovic) "As the genome project has evolved we have also learned that we can look at our genetic makeup to understand if we are going to be good responders to some of the chemotherapies."

There are many kinds of breast cancer and being able to determine what type it is has also affected decisions regarding chemotherapy. And, according to oncologist Ronald Harris, even if chemotherapy will be beneficial or needed at all.

"What we are doing currently is an assay that has a set of genes. I believe there are 16, and they give a risk score for that tumor. And, using that risk score there is an algorithm that you can use to determine the benefit of chemotherapy in the patient. So how much benefit an early-stage breast cancer truly receives from chemotherapy which does in and of itself carry toxicity is being figured out. In a lot of ways many people come to the oncologist and in the end they don’t get chemotherapy which can be very surprising to them. The benefit of chemotherapy can be quite small in certain tumors because the prognosis overall is very good if it’s an early-stage cancer. Not everyone who has a breast cancer has to have a mastectomy; not everyone who has breast cancer needs chemotherapy; many patients can be treated with hormone pills such as Tamoxifen or aromatase inhibitors. Early detection is probably the key factor in this whole equation. Anyone who has a family history of breast cancer really truly needs to pay attention to that and really needs to inform their physician of that so that they can start screening at an appropriate age which would make all the difference."

There may be a lot a person does not know about their family history.

"Several years ago the Surgeon General decided that Thanksgiving should be a day when families could set aside time, maybe before the football game or whenever," (Luba Djurdjinovic), "and should share information about the different branches of the family and talk about what were some of the health issues. Now, I think that it doesn’t have to be done on Thanksgiving, but the message is that families need to find ways of sharing this information. So maybe the most important thing that someone can do is not rush out and have a gene test, but rush out to their families and sit down and write down what do we know about the health of our family members. What kinds of conditions did family members struggle with and what were the ages at which these conditions started."

I spoke with breast cancer survivor Kat Forsythe.

How old were you when you were diagnosed?

"49, and my mom was the same exact age when she was diagnosed. She was sitting like this talking on the phone and felt a lump and within days it was gone. Everything just gone. I mean there was no consultations and lumpectomies and biopsies and all that, they just said once it’s cancer and off it goes."

How long ago was that? How many years?

"1980, '81."

Maybe more reason to want to do the counseling, right, the genetic counseling.

"Yeah, yep. And my little sister is 43 and she’s never had a mammogram and it finally took me getting the cancer and also Lourdes Mission in Motion for her to finally back down and do that. I have to take a pill every day for five years so I don’t get the breast cancer back and boy, I make sure I take that pill."

"Before genetic testing someone should really have an opportunity to talk to someone about why have the testing," (Luba Djurdjinovic). "How will someone use the information and what that information might mean to them. We know that when men and women enter the genetic testing process they usually have a perception or a sense of what’s the likelihood that a genetic change is going to be identified in their family because that’s why they’re seeking the consultation. They have something that’s bringing them to this concern and generally there’s a wish to use this as a tool. It is rare that someone who has thought this through is going to look at that test and say 'wish I didn’t know.' Information about what somebody has, what choices they have, even knowing that they have choices is very powerful."

 

Series produced by WSKG’s Kathleen Cook, with funding provided by a grant from the Susan G. Komen Foundation.