Legacy

By Dr. Robert Pluenneke on October 28, 2008 6:48 PM | Permalink | Comments (96)

I wonder if I will get cancer? I wonder what my risks are of getting cancer? I wonder if my children will get cancer? These are questions that we all ponder as we go through life. As our knowledge of genetics increase, we are beginning to unravel many of the genes that can cause patients to be at increased risk for developing cancer. This area of genetics has literally exploded on the scene in the last five to ten years. I am proud of our practice as it has been on the forefront of developing a genetic program as a part of its quality improvement program. Over five years ago, we started aggressively testing patients inorder to identified hereditary cancer syndromes We have identified a large number of patients who carry these genes. In the last three months, I have seen three different women for breast cancer who I recommended be tested and were found to be positive for one of the genes that make up hereditary breast and ovarian syndrome (HBOC syndrome). Each of these three women’s stories is illustrative of a suspicious family history and how these genes can be discovered in families.

The first patient is a 29-year-old woman who is a new patient to my office with the diagnosis of breast cancer. She is currently receiving chemotherapy. In reviewing her family history, she had several relatives including an aunt, a cousin, and a great grandmother who had developed breast cancer. Her cousin had also developed breast cancer at a very young age in her early 30s. She has 3 children the youngest two are girls. Although her affected relatives are not necessarily close, I felt because of her young age and the aggressive nature of her disease, that genetic testing was indicated. She underwent that testing and in fact did have a BRCA mutation. We have subsequently tested four members of her immediate family and have found three of the four also carry the gene. This has great health implications for her siblings that have tested positive, her children and also her mother who also tested positive.

The second patient was a patient who I originally saw for breast cancer some 10 years ago. She had continued to see me on a regular basis for ongoing follow up. It has become a common practice for me to periodically review the patient's family history. At the time of her initial presentation of breast cancer some 10 years ago, she was very young patient. No one in her family, at the time of her diagnosis, had developed breast cancer. Despite seeing her at least every six months for at last 10 years, she never had brought up to me the fact that other family members had developed cancer. I recently reviewed her family history and discovered that several other family members have been diagnosed with breast cancer and an aunt has been diagnosed with ovarian cancer. It was not until I asked her once again to review her family history that it became obvious that her family may be at high risk for genetic breast cancer. I again recommended testing on her and sure enough, she turned out positive for the BRCA-1 mutation. Her family is now in the beginning of having multiple family members tested to see if others in her family has the abnormal gene

The third patient is a 70-year-old white female who developed breast cancer approximately thirty years ago. She had a hysterectomy done as a young woman for what she said at that time was precancerous lesion. She is currently battling lung cancer. Again, in talking with her and reviewing her family history, she recently revealed to me that a 27-year-old niece was recently diagnosed with breast cancer. In reviewing her family, the niece and several relatively distant aunts were positive, I indicated to her that I felt her overall risk of carrying one of the genes was relatively low, but there were some red flags in that her niece was so young. Once again, genetic revealed a BRCA abnormality.

In all three of these patients, the discovery of these genes will alter how they are managed for the rest of their lives. All of them have children and their children will have significant risks of possibly carrying an abnormal gene and will need testing either now or in the future as they get older.

Breast cancer is only one of the areas that genetic testing has been discovered to make a difference. There are genetically predisposed families who develop colorectal cancer at a high rate. There are genetic abnormalities that predispose families to the development of melanoma. Below is a link to some information on families who should be tested for hereditary colon cancer syndromes and HBOC syndromes.

www.myriadtests.com/provider/doc/Clinical-Update-v5n07-SGO.pdf

In counseling patients who have genetic abnormalities that predispose them to cancer, it is a sometimes difficult and lengthy process to educate and give recommendations to these patients. In BRCA carrying women, many times recommendations for bilateral prophylactic mastectomy and complete hysterectomy are appropriate. These are sometimes difficult surgeries for women to consider. These women also carry the burden of the knowledge that they may have passed this on to their children especially their daughters.

As a parent of three children, the legacy that I want to leave for my children means a great deal to me. I think this is a very common sentiment that most parents have. I cannot imagine the worry, the fear and the sense of sadness that parents must feel knowing that they passed on a gene to their children that may forever alter their chances of living a normal life. As parents, we strive to educate our children, build a strong foundation and give them every opportunity to succeed. Passing on a gene that increases the risk of cancer is a unwanted legacy. By no fault of their own, these patients’ children may have to deal with life and death decisions from an early age. Counseling these families and their children are some of the most challenging discussions that I have. I struggle with each of these discussions to trying to explain this difficult information. Young women's reaction to discovering that they have the gene is quite mixed. Some feel relief knowing what they face, others go into complete denial.

My advice to all patients who seem to have a lot of cancer in the families is to seek out expert opinions, to see a genetic counselor and explore the possibility that one of the genes may run in their family. It is my hope that as times goes on, we will develop other genetic tests and identify other genetic risk factors. These may be able to explain more of why cancer occurs and allow us to predict and hopefully prevent the suffering from these awful diseases.

96 Comments

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