Rhode Island Monthly Breast Health 2011 : Page 3

SP ECIAL AD VER TISIN G SE CTI O N BRCA2 gene, also commonly referred to as the “breast cancer gene,” and so does Amanda. David was only six when his twenty-nine-year-old mother was diagnosed with early stage breast cancer. In the presence of his mother, he said he didn’t remember much from that time. Once she was out of earshot, David’s memory improved. David and his older brother were told by their grandmother in a loving yet direct way that their mother had been diagnosed with breast cancer. Although he was young, David’s life had already been touched by cancer. Just prior to learning of his mother’s diagnosis, David’s schoolteacher informed her class that she had cancer. The inquisitive boy asked his mother about the disease, and she explained that early detection meant surviving. Breast cancer is the most common cause of cancer death among Hispanic women. So when David’s mother was diagnosed, he was confident in her prognosis. “I knew she wasn’t going to die, but I still worried about her,” he says. David and his brother spent most of their mother’s illness with their grandparents because she was too sick too often to care for them. David had trouble looking at his mother without hair, so when he did see her, she always made sure to wear a wig. If these are examples of how not to tell your kids you have breast cancer, how should you tell them? What do you tell them? How much information is the right amount to share with your kids? Isabel Storey, CAGS, is a licensed mental health counselor who facilitates support groups at the Gloria Gemma Breast Cancer Resource Founda-tion. With more than twenty years of experience, A Diffi cult Conversation continued on page 104 » Everyone has the Breast Cancer Gene But not everyone has the same risk. ALL MEN AND WOMEN have the BRCA1 and BRCA2 breast cancer genes. In fact, everyone has two sets: one from each parent. These genes are actually tumor suppressors. It is a mutation in the gene that causes a higher incidence of breast and other cancers. The mutation is passed from generation to generation and can be passed by either parent. Forty-year-old Jennifer is considered a “previvor.” Through genetic testing she learned that her grandfather carried the mutated BRCA1 gene, and he passed it to his daughters. Jennifer’s moth-er was fi rst diagnosed with breast cancer at age twenty-eight, and she passed away from the disease at age forty-six. Three of her mother’s sisters passed away from breast cancer and a fourth passed away from ovarian cancer. Jennifer knew her family history, but not everyone does. Cathy was forty-one when she was diagnosed with breast cancer. Her doctor suggested genetic testing because of her age and because she didn’t know her family history — Cathy was adopted. The testing revealed Cathy has a mutated BRCA2 gene, and she had her daughter tested when she became of age. As fate would have it, her daughter also tested positive for the mutated BRCA2 gene. Jennifer Scalia Wilbur, MS, a genetic counselor at Women & Infants Hospital, reports that a positive BRCA mutation increases an individual’s risk of developing breast cancer 56-87 percent over the average risk. The risk of being diagnosed a second time increases 25-30 percent within ten years of an initial diagnosis. The likelihood of developing ovarian cancer by age seventy is 27-44 percent greater for women with a BRCA1 mutation, while the increased risk of developing ovarian cancer with a BRCA2 mutation is 16-27 percent. BRCA2 mutations have also been linked to an increased risk of other cancers, such as pancreatic, melanoma and, in very small numbers, esophageal cancer. Men who carry a BRCA positive mutation have a 7-10 percent chance of developing breast cancer, and they have a higher risk of developing prostate cancer. Despite these statistics, the science of genetic testing has improved. “Genetic testing has made leaps and bounds,” says Scalia Wilbur, who has been a genetic counselor for fi ft een years. One such advancement is the BRCA Analysis Rearrangement Test (BART) which can detect approximately 3-5 percent of BRCA mutations that the standard screening misses. The percentage may be small, but it’s not insignifi cant to people whose BRCA mutation was discovered by this test. Recent data also shows BART has resulted in greater detection of the BRCA mutation in Latin American and Hispanic populations. “BRCA is not the only story. There are so many genes out there,” Scalia Wilbur says. Scientists have recently discovered additional genes that infl uence breast cancer risk, and early data suggests these genes may increase a woman’s risk of developing breast cancer two to three fold over the general population’s risk of 12 percent. BRCA testing should be done by an expert. Well-meaning doctors can misinterpret a benign variant — a smudge — on the BRCA gene as a mutation, and the results can have devastating consequences. Imagine being told over the phone at eighteen that you have a BRCA mutation. Or imagine being told that you have the BRCA mutation and then being encouraged to immediately have your ovaries removed and bilateral mastectomies. This happened to a woman who learned aft er the fact that the so-called mutation was nothing more than a benign smudge on the BRCA gene. “Counseling is a critical part of the testing process,” Scalia Wilbur says. Not everyone wants to know if they have a BRCA mutation, but others fi nd the knowledge empowering. Having that knowledge, coupled with appropriate counseling, allows patients to make decisions that are suitable for their circumstances. And having the mutation does not mean that surgery to have breasts and ovaries removed is inevitable. It does mean aff ected individuals need to be diligent in screening for breast cancer. In addition, a strong family history of breast cancer does not necessarily mean that there is a BRCA mutation. If it is determined that a woman has a BRCA mutation, her children will have a 50 percent chance of inheriting the mutation. If her children test negative for the mutation, they fall into the general population risk of developing breast cancer. If a family history exists without a BRCA mutation, it means that doctors don’t know why breast cancer is occurring in the family, whereas a positive mutation means there is a defi ned cause. Although science still cannot pinpoint who will get breast cancer and who won’t, it can determine who is at a higher risk for developing the disease. Until a cure for breast cancer is found, early detection is the best defense. Monthly self-breast exams, annual mammograms begin-ning at age forty and clinical breast exams are the best tools for detect-ing breast cancer early. Women owe it to themselves and their families to do what they can to reduce their risk, which includes maintaining a healthy weight, eating a healthy diet, limiting alcohol consumption and not smoking. RHODE ISLAND MONTHLY l OCTOBER 2011 103

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