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March 24, 2010 > Washington Cancer Genetics Program Empowers Patient with Knowledge

Washington Cancer Genetics Program Empowers Patient with Knowledge

You've probably heard someone remark, "She's got her mother's blue eyes!" Or maybe, "He's the spitting image of his father, right down to the curly hair!"

Many physical traits such as eye color and curly hair are passed down through families via the genes on their DNA. But your genetic makeup can also make you more likely to inherit a predisposition to certain diseases - including various forms of cancer.

Mary Lorenzini was 49 years old when she was diagnosed with endometrial cancer - cancer of the uterine lining -- and successfully treated with surgery to remove her uterus and ovaries. She had been aware that her maternal grandmother had also developed uterine cancer, dying at an early age while Lorenzini was still a baby. Lorenzini's mother and maternal uncle both were diagnosed and treated for colon cancer at relatively young ages, too.

"I was vaguely aware that there are gene abnormalities that can make you more likely to inherit a greater risk for certain cancers," says Lorenzini, now age 63. "I never really explored the matter, though, until after a series of frequent urinary tract infections last June. My regular physician, Dr. Steven Curran, referred me to urologist Dr. Mark Saleh (both physicians are affiliated with Washington Township Medical Group) who ordered a CT scan of my abdomen."

The CT scan did not reveal any problems with Lorenzini's urinary tract, but it did show numerous nodules on her liver. The radiologist who read the report said there was a possibility it might be cancer.

"Dr. Curran agreed it might be cancer, so he sent me for a biopsy and referred me to an oncologist," she recalls. "The first liver biopsy performed using ultrasound guidance did not find any cancer cells, so they sent me for another biopsy using CT scan guidance. After taking samples from four different locations on the liver, they still couldn't find any cancer cells."

At that point, Washington Hospital oncologist Vandana Sharma, M.D., suggested that based on Lorenzini's family history, genetic counseling and testing might be warranted. Lorenzini met with Certified Genetics Counselor Nicolette Chun, MS, CGC, at the Washington Cancer Genetics Program, to discuss what genetic testing and counseling would entail.

"There was no pressure for me to undergo testing," Lorenzini notes. "They are very sensitive to the fact that some people do not want to know whether they have a genetic predisposition. It was totally my decision to have the tests. I decided that it would be better for me, personally, to know than not to know."

Two weeks after submitting a blood test, Lorenzini's results were in, and she was scheduled for a follow-up counseling session with Sharma and Chun.

"The test showed that she has a condition called 'Lynch syndrome,' which is a genetic mutation that means she has an 80 percent lifetime chance of developing colon cancer," Sharma explains. "A number of other inherited syndromes can increase your risk of colon cancer, but Lynch syndrome is the most common. Women with Lynch syndrome have up to a 60 percent chance of developing uterine cancer. It also increases the risk for developing other cancers, including stomach, liver, gallbladder and ovarian cancer."

Lynch syndrome has a "dominant" inheritance pattern, which means that if one parent carries a gene mutation for the syndrome, each child faces a 50 percent chance of inheriting the mutation. The risk of inheriting Lynch syndrome is the same, regardless of whether the parent with the gene mutation is the mother or father - or whether the child is a son or daughter.

"After I tested positive for the mutation, my adult children also were tested," Lorenzini says. "Like me, they thought it's better to know than not to know. It turned out that neither of my sons inherited the gene, but my daughter did. We're not necessarily 'relieved,' but we are empowered by this knowledge."

As a by-product of her genetic testing, Lorenzini also learned her liver was being affected by another inherited disorder. "My liver specialist had previously tested me for a condition called hemochromotosis, in which the body doesn't process iron properly so it ends up being stored in the liver and other organs," she says. "That test result was negative. With the genetic testing, though, Dr. Sharma had me screened for 'hereditary' hemochromotosis, and it turns out I do have that form of the disease."

In the counseling sessions following their diagnoses, Lorenzini and her daughter learned about the preventive measures they could take to help reduce their risks of developing cancer, as well as what screenings they needed.

"With Lynch syndrome, you need to step up your screenings, getting a colonoscopy every one to two years starting at age 25, rather than 50 which is the recommended age for the general population," Sharma notes. "For women with the syndrome, they recommend regular gynecology screenings, including periodic endometrial biopsies, since the mutation increases the risk for uterine and ovarian cancer. For women who have completed childbearing, a prophylactic hysterectomy and removal of the ovaries is an option for risk reduction, but that is a personal choice the woman needs to make in consultation with her physician."

To treat her inherited liver disorder, Lorenzini now goes in for periodic blood withdrawals to lower the level of iron in her body - another preventive measure she wouldn't have known about if she hadn't undergone genetic testing.

"At first, it was a bit scary, facing the fact that my daughter and I have higher risks for developing cancer," she says. "I'm really glad, though, to be so much better informed and able to care for myself. I feel much better going forward since Dr. Sharma knows what to look for, too. The whole process was very positive. The knowledge is empowering."

A collaborative effort between Washington Hospital and the Cancer Genetics Clinic at Stanford University Medical Center, the Washington Cancer Genetics Program offers the most advanced genetic testing and counseling for people who are concerned about their risk of an inherited predisposition to cancer. The program is the only facility in the East Bay to offer the combined services of a certified genetics counselor and a board-certified medical oncologist who can evaluate testing results.

All patients referred to the program by their physicians will meet with a genetic counselor who can evaluate and discuss their medical and family histories, provide educational information regarding genetic risks for cancer and offer support with the physiological and social concerns related to having an increased cancer risk. For patients with a strong family history of cancer, genetic testing may be recommended. The medical oncologist is available for consultations with the patients' own physicians, who direct follow-up care and treatment.

For more information, please visit the Cancer Genetics Program online at or call (510) 608-1356.

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