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10 cousins have preventative gastrectomy due to genetic testing (crosspost)
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PostPosted: Tue Jul 04, 2006 9:03 am    Post subject: 10 cousins have preventative gastrectomy due to genetic testing (crosspost) Reply with quote

<http://www.boston.com/yourlife/health/diseases/articles/2006/06/18/11_cousins_give_up_stomachs_after_tests/?p1=MEWell_Pos4>

Cousins at risk of cancer give up stomachs

Ten members of the Bradfield family who had their stomachs removed in a
procedure called a gastrectomy gathered in Las Vegas Saturday, May 27,
2006. They are, from left rear, Mike Slabaugh, Laura Pollard, Linda
Bradfield, Diane Sindt, Connie Gasaway, Rita Cmorey, Jeanni McAbee, Mark
Allen and, from left front, Kitty Elliot and Bill Bradfield. Those who had
the operation discovered they had a rare genetic mutation that could have
caused stomach cancer. (AP Photo/Jane Kalinowsky)

By Alicia Chang and Malcolm Ritter, AP Science Writers | June 18, 2006

LOS ANGELES --Mike Slabaugh doesn't have a stomach. Neither do his 10
cousins. Growing up, they watched helplessly as a rare hereditary stomach
cancer killed their grandmother and some of their parents, aunts and
uncles.

Determined to outsmart the cancer, they turned to genetic testing. Upon
learning they had inherited Grandmother Golda Bradfield's flawed gene,
these were their options:

Risk the odds that they might not develop cancer, with a 70 percent chance
they would; or have their stomachs removed. The latter would mean a
challenging life of eating very little, very often.

All the cousins chose the life-changing operation. Doctors say they're the
largest family to have preventive surgery to protect themselves from
hereditary stomach cancer.

"We're not only surviving, we're thriving," said Slabaugh 16 months after
his operation at Stanford University Medical Center in Palo Alto.

Advances in genetic testing are increasingly giving families with bad
genes a chance to see the future, sometimes with the hope of pre-emptive
action. People have had stomachs, breasts, ovaries, colons or thyroid
glands removed when genetic tests showed they carried a defective gene
that gave them a high risk of cancer.

But what about people whose families don't have these rare, but powerful
genetic defects? Experts say that someday, doctors may do DNA tests as
routinely as they check cholesterol levels now, spotting disease risks
that can be lowered. That day isn't here yet, but progress is being made.

"We do not yet have a general DNA test that fits into that category, but
we're headed for it at a pretty good clip," said Dr. Francis Collins, head
of the National Human Genome Research Institute.

By 2010, there might be several such tests, along with recommendations to
help high-risk people avoid certain diseases, he said. (In fact, newborns
are routinely tested now for some genetic conditions, but those tests
generally focus on substances in the blood rather than DNA.)

To come up with a useful DNA mass-screening test, it's not enough to
identify a particular gene variant that raises the risk of a disease,
experts said. There are other questions:

--Are there enough potential cases in the general population to make mass
screening worthwhile?

--Is there good evidence that screening would improve health?

--Is the risk of disease high enough to make the test result useful?

--How useful is the test in various ethnic groups?

--Is there a way to lower the disease risk?

For now, "mass screening with DNA testing isn't quite ready for prime
time," said Dr. Ned Calonge, head of the U.S. Preventive Services Task
Force, which recommends steps people can take to prevent disease.

The task force recently recommended against routinely testing women for
harmful mutations in BRCA genes. Those mutations raise the risk of breast
and ovarian cancer. But it endorsed such testing for women whose family
histories show certain suggestive patterns of cancer -- a situation like
stomach cancer in the Bradfield family.

Page 2 of 2 --

Slabaugh, who lives in Dallas, reunited with his many scattered cousins
recently in Las Vegas just two months after the last in the group -- Bill
Bradfield of Farmington, N.M. -- had his operation. Several hadn't seen
each other for decades while others met for the first time.

They gambled, went to shows and dined in the City of Sin.

"Rather than live in fear, they tackled their genetic destiny head-on,"
said Dr. David Huntsman of the University of British Columbia, who found
the gene mutation in the family.

About 22,000 Americans will be diagnosed with stomach cancer this year and
half will die, according to the American Cancer Society. But the form that
runs in the Bradfield family called hereditary diffuse gastric cancer is
extremely rare with about 100 families diagnosed worldwide.

The CDH1 gene mutation was first discovered in 1998 in a large New Zealand
family with a history of stomach cancer. Those with the mutation have a 70
percent risk of stomach cancer.

It killed Golda Bradfield in 1960. She passed the faulty gene to seven of
her children. Six died of the disease in their 40s and 50s.

The 18 grandchildren learned of the defective gene after one of them,
David Allen, died of stomach cancer in 2003. His doctor had sent a blood
sample to Huntsman's lab, which confirmed the genetic mutation.

Soon after, the remaining 17 got tested. Eleven who had the bad gene had
surgery.

Slabaugh, haunted by his mother's death since his teen years, didn't
hesitate to have the operation. He and five other cousins had it done at
Stanford. The other family members had surgery closer to home.

"I wake up every morning and think, 'This is a free day. I get a bonus
today,'" said the 52-year-old marketing executive.

During surgery, doctors removed the entire stomach and surrounding lymph
nodes and attached the bottom of the esophagus to the intestine to create
a pouch. Without a stomach, patients typically lose significant weight and
must eat smaller meals more often. They can still digest food through the
small intestine.

Insurance paid for part or all of the procedure, which cost between
$65,000 to $85,000.

While the stomachs of all six Stanford patients looked normal before
surgery, a study of the tissue revealed early tumor growths, said Dr. Jeff
Norton, the surgeon.

The long-term effects of stomach removal surgery are still unclear.
Researchers around the world are following families with hereditary
stomach cancer to find out how the procedure affects quality of life.

It took about a year for Linda Bradfield, a 55-year-old merchandising
coordinator from Irvine, Calif., to adjust to her missing stomach.
Initially, she could only eat 800 calories a day and was on a strict bland
diet. She gradually added vegetables such as cabbage and lettuce, but
still avoids white bread, which she finds tough to digest.

"Life is pretty good without a stomach," she said.

Before Diane Sindt and her two older sisters had their stomachs taken out,
they ate their "last supper" during Thanksgiving. True to their sisterly
bond, they scheduled their operations at Stanford on consecutive days in
December 2004.

The upside is that Sindt dropped from a size 12 to a 2, since the surgery.
But she has trouble keeping down certain foods like ice cream and tends to
shed weight easily if she over-exercises. To overcome it, Sindt sticks
with meat and has replaced running with "power walking."

"It's definitely a new normal for us," said the 51-year-old real estate
broker from the Sacramento area.

Unlike his other cousins, Bill Bradfield of New Mexico wrestled over what
to do. He wondered how his life would change without a stomach. Would he
still have enough energy for his demanding job as a mechanic for a natural
gas company?

But after watching his other cousins slowly regain parts of their former
lives, Bradfield went ahead with the operation at the University of Texas
M.D. Anderson Cancer Center in March, becoming the last in the family to
give up his stomach.

"We're all going to die of something," he said, "but I know I won't die of
stomach cancer."

------

AP Science Writer Alicia Chang reported from Los Angeles and Science
Writer Malcolm Ritter reported from New York.
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