Sickness in the fmaily tree: when cancer strikes generation after generation 

Aug 17
2012

 

Statistics show one in eight U.S. women will develop invasive breast cancer over the course of her lifetime.

That number hits much too close to home for Judy Rathjen.

Rathjen, a supervisor in the business office at Methodist Hospitals, had breast cancer. Her mother has ovarian cancer, her paternal grandmother had breast cancer and a sister had uterine cancer. “I didn't know ovarian and breast cancer are linked,” she says.

Rathjen, 54, was diagnosed with Stage 1 breast cancer in January 2007. “I had a spot on my mammogram four years prior to that, and it was being watched,” she says.

When technology improved, the digital mammography helped doctors determine it was something more serious. "I didn't think it would happen to me, because they were watching it," Rathjen says.

Her grandmother was diagnosed before age 40. “From what I've read, [if you're] under 40 or 50, there's more chance of it being hereditary,” Rathjen says. But genetic testing did not turn up abnormalities, she says.

Local geneticist Dr. Janice Zunich says familial links to breast cancer have been studied since the 1800s. Physician Paul Broca wrote the first report of familial breast cancer after taking a look at cancer in his wife's family, when she was diagnosed with early-onset breast cancer. “Four generations of breast cancer could be identified,” Zunich notes.

Cancer can be labeled sporadic or hereditary. Most are sporadic. “But there is a subset, about 5 percent, that have a hereditary component,” she says.

The average age a person is diagnosed with sporadic breast cancer is 61. For hereditary breast cancer, the average age is 42. Multiple factors cause doctors to suspect heredity may be a role, Zunich says. “Did she get it before 50? Was it bilateral [in both breasts]? Did she have more than one tumor?” she says.

Family history, having a male relative with breast cancer or being a member of certain ethnic groups are other factors taken into account. “If you can identify a woman who might be at increased risk, what does that mean?” she says. “It depends which gene the mutation is in.”

The BRCA1 gene was sequenced in 1994 and the BRCA2 gene was sequenced in 1995. Women with a BRCA1 mutation have a 65 percent risk of getting breast cancer and 40 percent risk of ovarian cancer by age 70. Women with a BRCA2 mutation have a 45 percent chance of breast cancer and 11 percent chance for ovarian cancer by age 70, Zunich says.

Once the genes were sequenced, those in the medical field initially thought that BRCA1 and BRCA2 accounted for about 75 percent of hereditary breast and ovarian cancer. "Now we know that is most likely not the case and that maybe only 25 percent of hereditary breast/ovarian cancer is the result of mutations in these two genes," Zunich says.

As technology improves, so does testing. “We've gone from looking at two genes to adding another fourteen,” she says.

Those other fourteen genes may be responsible for another 12 to 30 percent of hereditary breast and ovarian cancer families. "That means there will still be families, even if they test all the genes we currently offer, who will not have an answer," Zunich says. "The benefit of finding a mutation is that the information can help us manage the patient [providing appropriate therapies and recommendations for surveillance] and also provide relatives at risk with the option of determining if they are also carriers of the same mutation. If so, they can have increased surveillance and options of prophylactic surgery. If not, routine surveillance [recommendations for the general population] would be indicated."

Having a mutation in BRCA1 or BRCA2 does not mean a person will definitely develop a malignancy, but carrying that mutation certainly increases the risks of developing breast or ovarian cancer, she says.

BRCA2 mutations have shown up in familial pancreatic cancers, some early-onset melanoma as well as prostate, colon and bile duct cancer, Zunich says.

“There are some things that the public thinks that are not exactly the case,” she says. “They say, 'I need to know if I have that breast cancer gene' [meaning BRCA1 and BRCA2]. Everybody has those genes.”

The genes are there to repair defects in DNA. If they are mutated, they do not work properly. “Then defects in DNA will slip through,” she says.

Defects may go on with no problem, or they may lead to cancer, Zunich says. “We all have BRCA1 and BRCA2,” she says. “If you find a mutation, it does not mean you have a 100 percent chance you will get cancer. You could carry a mutation and never get cancer.”

She notes that it is important to factor in both sides of the family, not only the mother's side. “Half of our genes come from each parent,” she says.

Rathjen carries a marker in her right breast, so future mammograms will note the site of the cancer. She gets her mammograms at Methodist Hospitals, because it offers digital mammography that allows the radiologist to scroll and analyze each layer of tissue.

Even though she is cancer free, the idea it could return is always in the back of her mind. “I don't take things for granted,” she says. “There's things I want to do. You always think there's a 'later,' and now it's in the back of my mind: 'Is it going to come back?' You can do all the tests you want and it still sits in the back of your mind. Anyone who hasn't gone through it can't realize what you're going through.”

Someone who can relate to the cancer diagnosis is her mother. Pat Fitzpatrick, 79, has ovarian cancer.

In early July, doctors gave Fitzpatrick two to eight weeks to live. She respectfully replied that the decision is not in their hands, but up to God. “In November of ’99, they gave me six years,” she says.

Fitzpatrick, a former avid square dancer who lives in LaCrosse, Wis., was told women who've had children are less likely to develop ovarian cancer. She had seven children.

Ovarian cancer is often called a silent killer because its symptoms could be confused with other medical problems or overlooked altogether. Her signs were not so silent. She had a bowel obstruction, caused by a tumor wrapped around her bowel. Doctors initially diagnosed it as irritable bowel syndrome.

She also had frequent urination and breakthrough bleeding, which is when a woman bleeds vaginally between menstrual cycles. But Fitzpatrick was post-menopausal. “I felt what I thought was a tumor, and I went in with it, and the doctor said he didn't want to do surgery, but he wouldn't do a colonoscopy,” she says.

She switched doctors.

The new doctor ended up removing her ovaries and tubes. In 2002, cancer spread to her spleen. “It kept coming back,” she says.

In all, she was diagnosed with cancer seven times. “I just accepted it,” she says. “It was part of my life, I guess. I didn't like to hear it, but I thought, 'OK, let's take care of it and be done.' I'd go through chemo each time,” she says.

Her liver had spots, and at last check, doctors found twenty-seven more tumors on it. One broke through her stomach wall and was bleeding on the outside.

Fitzpatrick thinks the path of her health may have been different if doctors were paying better attention. “If they had listened to me back when I was telling them I was having all these problems, [they] may have been able to catch it,” Fitzpatrick says.

She doesn't focus on the past. “The 'ifs' just don't count,” she says.

When she was growing up, people didn't talk about cancer. She knew a couple of her aunts had colon cancer, but there wasn't much said. “They didn't talk about cancer then, because people were afraid it was contagious,” she says.

Fitzpatrick says she doesn't talk much about her sickness with her grandchildren, but she advocates people being vocal with their doctors. “Speak up for yourselves,” she says. “You have to be your own doctor. If there's something wrong, you have to keep after them and find out what it is. You really have to push.”

And if the diagnosis is cancer, attitude is key, she says. “If you give up on yourself right away, you might as well figure you're a goner to start with."
 

Courtesy of the Times.

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