Breast Cancer Survivors: A Father's Diagnosis Helps Spare His Daughter's Life and Together They Learn How Knowing Their Family's Medical History Would Save Others

By Lott, Annya M. | Black Enterprise, October 2009 | Go to article overview

Breast Cancer Survivors: A Father's Diagnosis Helps Spare His Daughter's Life and Together They Learn How Knowing Their Family's Medical History Would Save Others


Lott, Annya M., Black Enterprise


ARNALDO SILVA GAVE HIS DAUGHTER VANESSA THE GIFT OF LIFE twice, the second time by saving it. If it weren't for his breast cancer diagnosis, his daughter may have waited until age 40 to get a mammogram, as recommended by the American Cancer Society--but that would have been too late. "if he didn't have cancer, I wouldn't be here," says Vanessa.

Vanessa, 33, received a diagnosis of breast cancer shortly after her father's doctor insisted that Arnaldo's four adult children--three daughters and one son--schedule tests to determine if they were BRCA2 positive, a gene mutation associated with breast and ovarian cancers as well as cancer of the pancreas, gallbladder, bile duct, and stomach. Because Arnaldo, 58 at the time of his diagnosis, was BRCA2 positive, there was a 50% chance that his children would inherit the gene. This was indeed the case: Vanessa and her 29-year-old brother, Arnaldo III, tested positive for BRCA/, putting them at an 80% lifetime risk of developing breast cancer.

The BRCA (short for breast cancer) gene test is a blood test that uses DNA analysis to identify mutations in either one of two breast cancer susceptibility genes--known as BRCA1 and BRCA2. Unlike the second, BRCA1 is primarily associated with breast and ovarian cancer. However, not all women diagnosed with breast or ovarian cancer have BRCA gene mutations. Still, according to the National Cancer Institute, women with an altered BRCA1 or BRCA2 gene are three to seven times more likely to develop breast cancer than women who don't have alterations in those genes. Furthermore, women with an altered gene tend to develop these cancers at a younger age, before menopause--as was the case for Vanessa, who was 32 when she received the diagnosis. Like Arnaldo, men with altered genes (primarily with a BRCA2 alteration) have an increased risk of developing breast and prostate cancers.

The Silvas' ordeal highlights the importance of knowing one's family medical history through genetic testing. "When Vanessa was a patient of mine before, she didn't know her family history," notes Dr. Sharon Rosenbaum Smith, a surgeon in the division of breast surgery at St. Luke's-Roosevelt Hospital Center, who treated the New York City-based Silvas. "It wasn't until her dad was diagnosed with breast cancer that it came out that there were all these other people in the family affected [by the disease]."

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Genetic testing examines a person's DNA, the chemical database that carries instructions for the body's cells so they can reproduce and function. Tests can reveal changes in your genes that may cause illness or disease. The Silvas used a type of genetic testing called carrier testing, in which a person with a strong family history can determine if he or she has an altered gene that can increase the risk of developing a particular disease. Talking to a genetic counselor about family medical history can help address concerns and options depending on test results. According to the National Cancer Institute, the cost of genetic testing can range from several hundred to several thousand dollars, so it's important to check with your insurance provider about coverage.

Rosenbaum Smith concedes, though, that some patients are reluctant to submit to such testing. "The hesitation isn't what it means to that person," she explains, "but what it means to the family. If someone tests positive, it certainly has implications for other family members, siblings, and children."

In total, the Silvas have 10 family members who have altered BRCA genes and/or received a cancer diagnosis; three have died from the disease. Because the family members include Arnaldo's father, two sisters, three cousins, one niece, one aunt, and his son and daughter, Arnaldo, 59, believes his father, who is currently terminally ill with cancer, is the primary carrier of the gene mutation.

It's Rare for Men But Not Unheard of

For Arnaldo, a stationary fireman at a junior high school in New York City, discovery of his critical family medical history began in late 2006, when he felt an abnormal lump on the right side of his chest while taking a shower. …

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