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.

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]."

[ILLUSTRATION OMITTED]

[ILLUSTRATION OMITTED]

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. His primary physician dismissed the lump as fatty tissue and assured him not to worry. Five mouths later, he noticed the lump had grown. A second opinion offered the same initial diagnosis, but as a precaution this doctor ordered a biopsy, which confirmed that Arnaldo had breast cancer.

Because the disease is so rare in men, they don't require routine testing. Unfortunately, Arnaldo falls into the small group of men that make up less than 1% of all breast cancer cases. According to the American Cancer Society, in 2009 breast cancer will be diagnosed in about 1,910 men and an estimated 440 will die of it. In contrast, an estimated 192,370 women will receive a diagnosis of the disease; 40,170 will die of it this year alone. "Any male can get breast cancer," contends Dr. Ramona Swaby, an attending physician of medical oncology at Fox Chase Cancer Center and one of BLACK ENTERPRISE's leading doctors (see "America's Leading Doctors," May 2008). "Men who develop the cancer, even when the numbers are small, usually have a gene mutation."

Arnaldo's doctor assured him that it wasn't terminal, but insisted he undergo a radical mastectomy--a surgical procedure in which the breast and underlying chest muscle are removed--and that he and his family receive genetic testing for the DNA gene mutation. "When my children came back positive, that's when I broke down," says Arnaldo. "This is how my kids and grandchildren are going to remember me, that I gave them cancer.? I went into a deep depression."

A Daughter's Fate

On the same day Vanessa told her doctor about her father's gene mutation, Rosenbaum Smith scheduled a mammogram, which revealed extensive calcifications, or little flecks of calcium deposits, in the tissue in Vanessa's left breast. This confirmed the doctor's suspicion of cancer based solely on her father testing BRCA2 positive. Rosenbaum Smith explains that 85% of patients with suspicious calcifications usually have biopsy results that turn out benign, but 15% end up malignant. Vanessa was in the latter set. She had ductal carcinoma in situ (DCIS), or stage zero breast cancer--the most common type of noninvasive breast cancer--in which cancer is contained inside the milk ducts. According to the American Cancer Society, DCIS is the most common form of breast cancer, accounting for about 80% of diagnoses in the United States.

Vanessa had calcifications over a large area of her left breast, which eliminated the possibility of a lumpectomy. The surgeon recommended a unilateral mastectomy--the removal of one breast--to treat her cancer, but as a preventive measure Vanessa, a wife and mother of three, decided to have a bilateral mastectomy and ovariectomy--a surgery that removes both breasts and ovaries. "I didn't want to come back 10 years from now and have another lump," says Vanessa. "So I decided to get everything removed."

Battling Chemotherapy Together

Within weeks after Vanessa's surgery, she and her father started chemotherapy together at St. Luke's-Roosevelt Hospital Center. Concerned that her father hadn't received proper post-surgery treatment, Vanessa asked her oncologist to take him as a patient. The doctor recommended chemotherapy for both father and daughter--Arnaldo underwent eight rounds of treatment and Vanessa, four. "They never heard of a case like ours in the hospital," says Arnaldo. "It spread like wildfire and we became like rock stars." The treatment itself, however, was not so enjoyable. "It hits you on the third day," recalls Arnaldo. "You're weak; you get this bad taste in your mouth. I wouldn't wish it on my worst enemy." They both lost their hair and dropped 30 pounds between the two of them. "I describe it as having the flu to the 10th power," says Vanessa. "Your body just aches really badly."

To better manage the difficult days, the Silvas joined a support dance group of seven female cancer survivors. "This was my support," says Arnaldo.

A Message of Awareness

"It's very uncommon to see both a father and daughter diagnosed in a very short period of time of each other," says Dr. Anupama Goel, an attending physician in the division of hematology and oncology at St. Luke's-Roosevelt Hospital Center. "Arnaldo suffered from a lot of guilt--feeling guilty he passed this mutation on to his daughter. I told him he can't control genes or control the way they are passed. I tried to convince him he behaved maturely by getting the test done and sharing it with his family."

[ILLUSTRATION OMITTED]

Aside from feelings of guilt, Arnaldo also coped with insensitive remarks from uninformed colleagues and associates. "Isn't breast cancer a women's disease?" he recalls them asking. Frustrated by the barrage of objectionable questions, Arnaldo eventually isolated himself at work. "You start to feel like you're in a cocoon. It's taboo, like you can't talk about it," he says. As a result, Arnaldo and Vanessa intend to promote a different message--that both men and women can get breast cancer, and that knowing your family's history--and if necessary undergoing genetic testing---can make the difference in saving your life or the lives of your loved ones. Each of Vanessa's children must take a genetic test at age 25. According to Rosenbaum Smith, if her children test negative, Vanessa's grandchildren will be fine. "The gene doesn't skip generations," she says.

Arnaldo and his daughter, who are now cancer free, schedule checkups every three months and hope to open a foundation in the near future to spread awareness about breast cancer in both sexes. "We have a bond nobody else can understand," says Arnaldo. "People would say, 'You guys are unbelievable, you guys pulled it off.

PHOTOGRAPH BY JERRY JACK

Prevention & Testing

Risk Factors

Women

* Older age

* Older age at first birth or never having given birth

* A personal history of breast cancer or benign (non-cancerous) breast disease

* A mother or sister with breast cancer

* Breast tissue that is dense on a mammogram

* Hormone intake such as estrogen and progesterone 

* Alcohol consumption

Men

* Radiation exposure

* High levels of estrogen

* Family history of breast cancer, especially relatives who have BRCA2 gene mutations

Early Detection and Testing

Both Sexes:

* Biopsy--removal of abnormal cells or tissues for lab examination.

* Estrogen and progesterone receptor test--measures the amount of estrogen and progesterone hormone receptors in cancer tissue.

Women:

* Mammogram--an X-ray test of the breast,

* MRI (magnetic resonance imaging)--a test that uses a magnet, radio waves, and a computer to make a series of internal pictures of the body.

Men:

* HER2--a test for men to measure the amount of growth factor protein that sends growth signals to cells in cancer tissue.

Options for BRCA Gene Positive Results

* Surveillance uses clinical exams and tests to detect cancer as early as possible.

* Prophylactic Surgery removes as much of the at-risk tissue as possible to reduce the chance of developing cancer.

* Risk Avoidance behaviors such as exercising regularly and limiting alcohol consumption, may decrease breast cancer risk,

* Chemoprevention is the use of natural or synthetic substances to reduce the risk of developing cancer, or to reduce the chance of cancer recurrence. One study using tamoxifen found that it reduced the incidence of breast cancer by 62% in women with BRCA2 mutations. The results showed no reduction in breast cancer incidence with tamoxifen use among women with BRCA1 mutations.

* Gene Therapy--Currently, BRCA1 and BRCA2 gene mutations cannot be repaired.

SOURCE: NATIONAL CANCER INSTITUTE, WWW.CANCER,GOV