Women who have Lynch syndrome have an increased risk of getting endometrial cancer during their lifetime that is as high as 60 percent. Often endometrial cancer (cancer of the lining of the uterus) is the first Lynch-related cancer diagnosed, earlier than colon or rectal cancer.

Identifying a mutation in these women can prevent future colorectal cancers and discover ovarian, gastric, and other Lynch cancers early when they can be treated successfully.

And not only does this help the woman with endometrial cancer, it helps her family as well if they are tested for the inherited mutation and take steps to reduce their risk of future cancers.

Now, a research team has found the most cost-effective way to identify those women with endometrial cancer with Lynch syndrome is to screen their tumors for missing Lynch proteins only if they also have a first-degree relative with a Lynch-related cancer.

Researchers from the University of British Columbia and MD Anderson Cancer Center in Texas built a computer model to study ways to find women with Lynch syndrome among all women diagnosed with endometrial cancer.  Their goal was to decide on the best strategy to identify both:

• The most women with Lynch syndrome at risk for future colorectal cancer.
• The most cost-effective way of finding those women.

The six strategies they considered were:

• Direct referral for genetic testing for women with Amsterdam II family histories.
• Direct referral to genetic testing for women diagnosed under age 50 with at least one first-degree relative with a Lynch-related cancer.
• Immunohistochemical triage (IHC) of tumors in women under age 50 with genetic testing for those positive.
• IHC triage for women under age 60, followed by genetic testing for positive results.
• IHC triage for women diagnosed at any age with one first-degree relative with a Lynch cancer, followed by genetic testing.
• IHC triage for all women with endometrial cancer, with follow-up of positive results with genetic testing.

While using immunohistochemical testing for all women with diagnosed at any age with endometrial cancer would find 100 percent of Lynch syndrome, it is extremely expensive with an incremental cost-effectiveness ratio (ICER) of $648,494 for each life-year gained.

A better strategy was to use IHC triage for all women diagnosed at any age, but limit the tests to those who had a first-degree relative (parent, child, sibling) with a Lynch-related cancer.  The ICER for this plan was $9,126 — well within the range of cost-effective public health benefits.  It would also find more than 91 percent of women with Lynch syndrome

• Using the Amsterdam family history criteria would miss about a third of women (35%) who have Lynch syndrome.
• Direct genetic testing without IHC triage for women under 50 with a first-degree relative with a Lynch cancer would also miss 36% of potential Lynch mutations.
• IHC triage of women under 50 and under 60 would miss 38% and 34% of women with Lynch syndrome respectively.

Colonoscopy screening saves lives

Both women with Lynch syndrome and women with sporadic endometrial cancer benefit from colonoscopy screeningto reduce their subsequent risk for colorectal cancer and death from colorectal cancer:

• Lynch syndrome women who have annual colonoscopies have a 15% risk of getting colorectal cancer and a 6% risk of dying from it.
• LS women who don’t get the critical annual colonoscopy surveillance have a 40% risk of getting colorectal cancer and a 47% chance of dying.
• Women with sporadic endometrial cancer who have at least one colonoscopy every 10 years cut their risk of colorectal cancer from 5% to 3% compared to women who don’t get a colonoscopy.  Their chances of dying of colorectal cancer are cut down from 37% to 15%.

Janice S. Kwon, MD, MPH, FRCSC and her colleagues concluded,

Immunohistochemical (IHC) triage of women with endometrial cancer at any age having at least 1 first-degree relative (FDR) with a Lynch-associated cancer is a cost-effective strategy for detecting Lynch syndrome. IHC triage of women with endometrial cancer at any age having at least 1 FDR with a Lynch-associated cancer is a cost-effective strategy for detecting Lynch syndrome.

SOURCE

Kwon et al., Journal of Clinical Oncology, Volume 29, Number 16, June 1, 2011.

What This Means for Patients

If you have been diagnosed with endometrial cancer — cancer of the uterine lining — at any age and also have a parent, sister or brother, or child who has been diagnosed with a Lynch-syndrome related cancer, you should ask to have your tumor tested first by immunohistochemistry to see if you might have Lynch syndrome.

If that initial test is positive, you should follow-through with genetic testing to see if you have an inherited mutation for Lynch syndrome.

This is a better strategy than depending on family history alone or being diagnosed under age 50.

Lynch syndrome related cancers include colon, rectal, ovarian, endometrial, gastric, small bowel, and brain cancer as well as some kidney and skin cancers.  Newer evidence points to breast cancer as also related to Lynch syndrome.

Everyone needs to be aware of of how important including anyone with endometrial cancer when family histories are taken

In order for tumor screening to be cost-effective, not only should new tumors be tested, but family members need to follow through with genetic testing after a new Lynch mutation is found.  Finally people with Lynch syndrome mutations need to follow surveillance guidelines to prevent cancer or find it early,

Testing both tumors and at least three to four family members could cost as little of $36,000 per life year saved — well within the value of preventive health strategies.

Researchers used a computer model to predict costs of  testing tumors using several strategies, upper age limits, and assumptions about family members following up with genetic testing.

In order to fall beneath the $50,000 per life year saved threshold for cost-effectiveness, three to four family members needed to follow up with DNA testing for an identified Lynch syndrome mutation.

Women with Lynch syndrome could improve their life expectancy by about four years if they had their uterus and ovaries removed and followed the colorectal cancer surveillance guidelines, the study found.

The researcher team said that the ideal testing strategy was for pathologists to:

1. Use immunohistochemistry (IHC) tumor tests to look for missing protein expression  related to Lynch syndrome (MLH1, MSH2,MSH6, PMS2).
2. If IHC is positive, followup with tumor tests for a BRAF V600E  mutation.  (Inherited Lynch mutations don’t have BRAF mutations.)
3. If IHC is positive and BRAF is negative, do DNA blood tests for an inherited germline Lynch syndrome mutation.

Once an individual is identified with an inherited Lynch syndrome mutation, it is critical to inform close family members — siblings, children, and parents — of their own potential risk.  Since Lynch syndrome is passed directly from parent to child (autosomal dominant), children of an affected parent have a 50-50 chance of inheriting the gene.

When they know they are at risk, family members should also have DNA testing.  However, they only need to be tested for the gene discovered in their family — a much less expensive process.  Genetic counseling after their test can help them understand what the test results mean and, if positive, what steps they can take to protect themselves against cancer.

Study leader, Uri Ladabaum, M.D., from Stanford University, said,

A systematic approach to identify families with Lynch syndrome makes sense clinically, because it can save lives, and economically, because its costs are comparable to other things we choose to spend our health-care dollars on, We advocate establishing similar tumor-screening systems on a national level.

The study team, led by Dr. Ladabaum, included members from Stanford, University of California, Baylor University, and Memorial Sloan Kettering Cancer Center.  They concluded,

Widespread colorectal tumor testing to identify families with the Lynch syndrome could yield substantial benefits at acceptable costs, particularly for women with a mutation associated with the Lynch syndrome who begin regular screening and have risk-reducing surgery. The cost-effectiveness of such testing depends on the participation rate among relatives at risk for the Lynch syndrome.

Although family history can help identify individuals and families that may carry a Lynch syndrome mutation, it is not foolproof.  About half of families with mutations don’t meet the criteria and another half who do have histories that meet Amsterdam criteria don’t have one of the identified Lynch mutations.

In an editorial accompanying the study report in Annals of Internal Medicine, Dr. Randall Burt  from the University of Utah and the Huntsman Cancer Center points out:

The Amsterdam criteria were developed to identify persons and families who are likely to have the syndrome. The criteria include the following: 3 relatives in a family must have colorectal cancer, and 2 of them must be first-degree relatives of the third; at least 2 generations must be affected; and 1 of the cases must be diagnosed at an age younger than 50 years (2). These criteria have been successfully used to identify families with the Lynch syndrome but have also proven to be insensitive. At least 50% of families with the condition do not meet the criteria. About one half of families meeting the criteria will have a disease-causing mutation in one of the mismatch repair genes ( MLH1, MSH2, MSH6, or PMS2).

The Annals of Internal Medicine includes a summary for patients that describes the study and what it means.

SOURCES:

Ladabaum et al., Annals of Internal Medicine, Volume 155, Number 2,  July 19, 2011.

Burt, Annals of Internal Medicine, Volume 155, Number 2,  July 19, 2011.

What This Means for Patients

This study looks at how costly a testing strategy to identify people with Lynch syndrome is for a large population.  The cost isn’t for one individual or one family, but for everyone in a national health care system.

However, it does support the idea that people who have surgery for colon or rectal cancer should have simple, inexpensive tests done on their tumor tissue to see if they might have Lynch syndrome.

This not a definitive test for Lynch syndrome.  It will also be positive for people who don’t have Lynch, but it will also screen and find those who do.

About 15 out of 100 of people with colon or rectal cancer will have tumors that suggest Lynch syndrome, but only 3 to 5 of them will actually carry a Lynch mutation.

Many of these people with Lynch mutations won’t have strong family cancer histories, so tumor testing is the only way the syndrome would be uncovered.

If you have had surgery to remove a colon or rectal tumor, check with  your doctor to see if testing for microsatellite instability (MSI) has been done.  It will be part of the pathology report from the surgical specimen.  Many hospitals are now doing this test automatically after surgery at the same time they look for lymph nodes and other tumor information.

If it wasn’t done, you might want to request it.  The tumor block saved by the pathology department should still be available for the test.

If testing does indicate you might carry a Lynch mutation, you’ll want to talk to a genetic counselor about DNA testing to either confirm or rule out Lynch syndrome.

The test can save your life by changing the way your cancer is followed up.  And it can save the lives of your brothers, sisters, and children if they also have the mutation.

Finding colorectal cancer patients with Lynch syndrome helps both patients and their families to prevent cancer.

Lynch patients are at high risk for a second or third colon cancer, so identifying them before their colorectal surgery may change the operation planned.  Surgeons may want to remove the entire colon to prevent another colon cancer, and women may choose to have a hysterectomy during the same surgery to prevent endometrial cancer.

Because young patients are more likely to have Lynch syndrome, pathologists at the Mayo Clinic tested tumors from patients 50 years old or younger for microsatellite instability (MSI) after their surgery if they had not been tested preoperatively.

Comparing those with preoperative MSI testing to those whose tumors were tested after surgery gave the pathology team a chance to see if preoperative testing changed the surgical plan.

Between 2003 and 2008, 210 young patients with colorectal cancer had MSI testing, either before or after their surgery”

• 13 percent had high microsatellite instability (MSI-H).
• Two out of three (63 percent) of MSI-H patients had an inherited Lynch syndrome mutation.

Doctors knew before surgery that 16 patients had MSI-H tumors, but they only knew for sure that 2 of the 16 had Lynch syndrome because of genetic testing.  For the 16

• 7 (43.8%) had at least one first-degree relative with colorectal cancer
• 13 (81.3%) had any family history of colorectal cancer
• Surgeons recommended that a complete colectomy be done at the time of their surgery for 15 of the 16.
• 11 of 16 had colectomy performed.
• 8 out of the 10 women had a hysterectomy.
• 12 of 16 had genetic testing for Lynch syndrome done, 2 prior to surgery.
• 9 of 16 (56.3%) tested positive for Lynch.

There were 12 patients who weren’t tested before surgery but tested MSI-H postoperatively.  For that group

• 2 (16.7%) had a first degree relative with colorectal cancer
• 5 (41.7%) had any family history of colorectal cancer
• 1  had colectomy recommended prior to surgery and that individual did have a the colon removed.
• The 1 female did not have a hysterectomy.
• 4 out of the 12 had a genetic blood test for Lynch syndrome.
• 1 was positive.

Jennifer Holder-Murray and her team concluded,

MSI-H status was found in 13% of young-onset colorectal cancer patients operated at our institution, and 63% of those tested, had germ-line mutations. Knowledge of MSI status preoperatively significantly influenced surgical management with an increase in total colectomy and hysterectomy compared to patients whose MSI-H status was discovered postoperatively. The absence of germ-line testing in MSI-H patients did not appear to influence surgical decision making.

SOURCE:  Holder-Murray, Digestive Disease Week 2011, Poster Session, Mo 1599,Impact of Preoperative Microsatellite Instability Testing On Surgical Management in Young-Onset Colorectal Cancer Patients: Results from a Reflex Testing Protocol.

WHAT THIS MEANS FOR PATIENTS

• Patients who are 50 and younger and have been diagnosed with colon or rectal cancer may want to discuss having their biopsy tissue tested for microsatellite instability (MSI) before they have surgery.
• If MSI-High, they may want to have further blood testing for an inherited Lynch syndrome mutation.
• Lynch positive patients should discuss a complete colectomy with their surgeons.  Women may want to have ovaries and uterus removed since they have a substantial (40 to 60 percent) lifetime risk of endometrial cancer and about a 12 percent risk of ovarian cancer.

Listen to Dr. Henry Lynch talk about his early experience with families with unusually high numbers of colorectal and other cancers.  Hear what he has to say about finding families at risk and preventing cancer deaths.

Lynch syndrome survivor, Kate Murphy, shares her own story and that of her family.

Red Flags for Lynch Syndrome

• Colorectal or endometrial cancer before age 50
• More than 2 Lynch-associated cancers in 1 person
• Diagnosis under age 60 with MSI in tumor
• Strong family history of Lynch cancers
• Follow the “3,2,1 Rule”
  • 3 relatives with Lynch cancers, one of whom is a first-degree relative of another
  • 2 generations
  • 1 person under 50
  • Familial adenomatous polyposis (FAP) has been excluded

Doctors can use a simple set of screening questions available online to pinpoint an individual’s risk before that person ever gets cancer.   The online tool takes less than two minutes to complete.

If family history shows an individual to be at higher risk, genetic testing not only saves lives but is cost-effective.

Once Lynch syndrome is diagnosed, active steps can be taken to prevent Lynch-associated cancers or diagnose them early when they can be cured.

A team at the University of Michigan used an Archimedes computer stimulation to model how questioning individuals without cancer about family cancer patterns would affect development of colorectal and uterine cancer.   They put information for a theoretical 100,000 people into their model, including how many people would actually get screened, what cancer outcomes are, and what costs would be.

They found that if screening questions were asked between the ages of 25 and 35 and people who had more than a 5 percent risk of Lynch syndrome based on those questions got genetic testing, their chance of getting colorectal were reduced by more than 12 percent.  Risk of uterine cancer went down by nearly 9 percent.

The cost per quality-adjusted life year (QALY) was $26,000 — well within the range of other preventive screening programs for colorectal, cervical, and breast cancer.  Usually a QALY below $50,000 is considered cost-effective.

Clues that someone might be at risk for Lynch syndrome include

• A family history that includes colon or uterine cancer.
• Family members whose cancers were diagnosed at a young age — below the age of 40 to 50.
• Patterns of of several cancers in the family or in one person.

The cost to genetically test one person, identified by screening questions at risk for Lynch syndrome, is about $2,600.  Once the family mutation is discovered, testing additional family members is much less expensive — about $300.

During an American Association for Cancer Research press conference to discuss the study, Dr. Henry Lynch, professor of medicine and director of the Hereditary Cancer Center at Creighton University School of Medicine in Omaha, Nebraska, who discovered Lynch Syndrome, said,

I first presented this hereditary concept in 1964, and since then it has become more accepted. However, cost has always been a hurdle. With this new information about cost, we’ll be able to save a lot of lives and as a medical oncologist I feel very good about that.

Heather Hampel, genetic counselor at the Ohio State University pointed out that 1 in 35 patients with colorectal cancer has Lynch syndrome which translates to 1 in 370 Americans who carry a mutated gene for it. It is one of the most common inherited cancers.  Hampel has been instrumental in promoting another way of identifying people at risk by screening tumors from all people with colorectal cancer for MSI (microsatellite instability).  Patients with MSI then get full testing for gene mutations that cause Lynch syndrome.  While effective, she says that this strategy in not uniformly carried out.  It also requires having someone actually get cancer before family risk can be determined.

You can listen to Dr. Lynch, Ms. Hampel and other Lynch syndrome experts discuss the study and its impact during the press teleconference on the American Association for Cancer Research site.

Dr. Judy Garber, AACR President-elect, observed that Lynch syndrome is twice as frequent as BRCA breast cancer mutations, yet is much less often recognized.  She said the implications of the new study were huge.

This will affect a wide population by changing our thinking about risk for colon cancer. Young individuals will be able to have an assessment of their personal and family history using a computerized model that can help guide their colon cancer risk management for decades, and make it possible to prevent significant numbers of colon and associated cancers, especially in young people, for a very reasonable cost. It is a huge step forward in terms of bringing the benefits of cancer genetics to the broader population using tests that have, in the past, been considered too expensive.

Tuan A. Dinh, Ph.D., head of cancer modeling at Archimedes Inc., and lead researcher Stephen Gruber, M.D., Ph.D., M.P.H., director for cancer prevention and control at the University of Michigan Comprehensive Cancer Center, wrote,

These results suggest that primary screening of individuals for mismatch repair gene mutations, starting with risk assessment between the ages of 25 and 35, followed by genetic testing of those whose risk exceeds 5%, is a strategy that could improve health outcomes in a cost-effective manner relative to current practice.

SOURCE: Dinh et al, Cancer Prevention Research, published online November 18, 2010.

What This Means for Patients

Even if you do not have colon or rectal cancer, you can ask your doctor to estimate your risk for carrying one of the mutated genes that causes it.

A simple questionnaire is available online.

If your risk after completing the questionnaire is more than 5 percent, genetic testing can tell you and your family more whether you carry a genetic mutation that causes Lynch syndrome.  If you do have a mutation, close family members can also be tested.

While the cost of identifying the first family member is high — an average of $2,600 — additional members only need testing for one gene at an average cost of about $300.

Some people are concerned that being identified with Lynch syndrome or other inherited conditions will keep them from getting health insurance.  They also worry about job discrimination. GINA (the Genetic Information Nondiscrimination Act) protects them from being denied health insurance or charged more for it based on family history or genetic tests.  It also prohibits employers from refusing to hire someone with an inherited condition or treating them differently during their employment.

If you find out that you do have a mutation linked to Lynch syndrome, you can take steps to protect yourself against getting cancer or dying from it including:

• Annual colonoscopies beginning at age 20 to find polyps and remove them.
• Regular gynecological exams, including uterine biopsies and ovarian cancer screening, beginning at age 30-35.
• Removal of uterus and ovaries once childbearing is over.
• Depending on family history, regular upper endoscopies to find stomach cancers early.

Awareness Saves Lives.

Breast cancer may actually be with in the spectrum of Lynch cancers.

An Australian team reviewing the pathology of breast cancers in women who carried a mutation for Lynch syndrome ( hereditary non-polyposis colon cancer) found that half of the breast tumors were mismatch repair deficient — a hallmark of Lynch cancers.

The team found 107 cases of breast cancer and 90 families in the Colorectal Cancer Family Registry where

• both breast and colon cancer co-occurred
• families met either modified Amsterdam criteria, or had at least one colorectal cancer occurring before age 50
• breast tissue was available in the tissue bank for mismatch repair (MMR) testing

Among those breast cancers, 35 women with a Lynch mutation had been diagnosed with breast cancer.  Of these, 18 (51%) showed deficient mismatch repair and immunohistochemical testing found proteins missing that were the same as the family mutation.

Michael D. Walsh from the  Familial Cancer Laboratory at the  Bancroft Centre in Queensland, Australia, wrote,

Mismatch repair deficiency was identified in 51% of breast cancers arising in known mutation carriers. Breast cancer therefore may represent a valid tissue option for the detection of MMR deficiency in which spectrum tumors are lacking.

SOURCE: Walsh et al. , Clinical Cancer Research, Volume 16,  Number 7, April 1,2010.

A recent study by the German HNPCC Consortium confirmed the effectiveness of annual colonoscopies to find colorectal cancers at a curable stage.  Regular colonoscopies found early cancers more often than did patient symptoms.

Current recommendations are for surveillance colonoscopies to begin by age 25, be repeated every 1 to 2 years until age 40, and then annually.

Over 1,100 individuals from families with HNPCC were scheduled for annual colonoscopies, and more than 80 percent were completed in less than 15 months.  Ninety-nine colorectal cancers were found in ninety patients.

Of those cancers:

• 17 (17 percent) were identified by symptoms:  8 before the first baseline colonoscopy, 8 when the time between colonoscopies was more than 15 months, and 1 in an interval between tests less than 15 months.
• 43 were found during follow-up colonoscopies, only 2 of which regionally advanced (stage III)

Tumor stages were significantly lower among those whose cancers were found by colonoscopy compared to those identified after patients experienced symptoms.

The researchers divided the study patients into three groups:

• Those with an identified inherited genetic mutation for one of the Lynch mismatch repair genes (MUT group)
• Those without a mutation but with microsatellite instability (MSI group)
• Those with a strong family history that met the Amsterdam criteria but did not have MSI (MSS group)

By the age of 60, the mutation and MSI group combined had a 23 percent risk of getting colorectal cancer.  However, risk for the MSS group was only 1.8 percent.

Patients who had an adenomatous polyp removed during the first colonoscopy had a risk of another polyp that was two and a half times as great as those without that first polyp.  Their risk of subsequent colorectal cancer was almost four times as high.

The Amsterdam II criteria is used to detect families at risk for Lynch-related mutations. Each of the following criteria must be fulfilled:

• 3 or more relatives with an associated cancer (colorectal cancer, or cancer of the endometrium, small intestine, ureter or renal pelvis)
• 2 or more successive generations affected
• 1 or more relatives diagnosed before the age of 50 years
• 1 should be a first-degree relative of the other two (first degree relatives are parents, siblings, or children)
• Familial adenomatous polyposis (FAP) should be excluded in cases of colorectal carcinoma

However, genetic testing is necessary to confirm a mutation.

Christoph Engel and his colleagues in the German HNPCC Consortium concluded,

Annual colonoscopic surveillance is recommended for individuals with HNPCC. Less intense surveillance might be appropriate for MSS families.

SOURCE: Engel et al., Clinical Gastroenterology and Hepatology, Volume 8, Number 2, pages 174-182, February 2010.

While subtotal colectomy didn’t reduce deaths from Lynch-related colon cancer, it did cut down on additional colorectal cancer diagnoses and the need for other abdominal surgery.

Five years after surgery, 93 percent of patients who had subtotal colectomy were alive compared to 88 percent of those who had more limited operations or no surgery.  This wasn’t a significant difference.  However, 84 percent survived the five years without needing additional abdominal surgery compared to 63 percent of the group who had limited or no surgery.

Researchers analyzed people with Lynch syndrome in the Creighton University database.  Cases included those who had subtotal colectomy, either at the time of colon cancer diagnosis or as preventive surgery. They were compared to controls who had limited operations to remove only part of the colon (segmental colectomy).

In subtotal colectomy the colon is removed and the small intestine is attached to the rectum, which remains in place.

Five years after surgery, comparing those who had subtotal colectomy to those with limited resection:

• 94 percent were alive without another colorectal cancer compared to 74 percent of the controls alive and without subsequent colorectal cancer.
• 84 percent survived without needing abdominal surgery compared to 63 percent of controls.
• 93 percent lived five years compared to 88 percent of controls.
• Time to another colorectal cancer or the need for abdominal surgery was shorter for those who had a limited resection.

Their conclusion:

Even though no survival benefit was identified between the cases and controls the increased incidence of metachronous colorectal cancer and increased abdominal surgeries among controls warrant the recommendation of subtotal colectomy in patients with Lynch syndrome.

Lynch syndrome is a highly increased risk for colorectal and other related cancers caused by an inherited mutation in one of the mismatch repair genes.  People with a Lynch syndrome genetic mutation have a lifetime risk for colorectal cancer as high as 80 percent.

SOURCE: Natarajan et al., Diseases of the Colon and Rectum, Volume 53, Issue 1, pages 72-82, January 2010.

About 4 in every 1000 colorectal cancers are due to an inherited mutation in the MSH6 gene.  It accounts for about 10 to 20 percent of Lynch syndrome mutations.

By the time they are 80 years old, men have eight times the risk of getting colorectal cancer and women have 26 times the risk of endometrial cancer — cancer that begins in the lining of the uterus.

A research team identified 113 families with inherited MSH6 mutations in five countries, including 3,104 relatives.  They estimated the risk that they would have been diagnosed with a Lynch-related cancer by the time they were 70 and by the age of 80.  They also compared the risk of a cancer diagnosis in Lynch carriers to the general population.

• Men had a 22 percent risk of colorectal cancer by age 70 which rose to 44 percent by age 80.
• Women had a 10 percent risk of colorectal cancer by 70 which was 20 percent by 80.
• Women had a 26 percent risk of endometrial cancer by 70, 44 percent by 80.

For any Lynch-related cancer

• Men had a 24 percent risk by 70 with a 47 percent risk by 80.
• Women had a 40 percent risk by 70 and a 65 percent risk by 80.

Compared to other people without the Lynch-related MSH6 gene:

• Men had 8 times the risk of getting colorectal cancer in their lifetime.
• Women had 26 times the risk of endometrial cancer and 6 times the risk of any Lynch-related cancer.

Lynch syndrome, also known as hereditary nonpolyposis colon cancer (HNPCC), is an increased cancer risk, inherited directly from parent to child.  Changes in the genes that repair damaged DNA increase the chances that cells can grow out of control and develop into cancer.

SOURCE:  Baglietto et al., Journal of the National Cancer Institute, Advance Access, December 22, 2009.

Sgt. Joshua T. Rose and Iron (Photo by Tina Susman)

Briefly: Pancreatic cancer occurs in about on in five Lynch syndrome families, increasing risk for the cancer substantially.

Colorectal cancer patients whose tumors don’t have EGFR on immunohistochemical testing can still benefit from Erbitux treatment.

Patients learn more and like medical consultations better when doctors sit side-by-side with them to view tests.

Gastroenterologists deployed in Iraq are using their skills to help military working dogs.

Research Reports

• Among families with Lynch syndrome, one in five had at least one person with pancreatic cancer.  Data from 6,342 individuals in 147 families in familial cancer registries at Dana-Farber Cancer Institute in Boston and University of Michigan Comprehensive Cancer Center in Ann Arbor included 47 cases of pancreatic cancer in Lynch families, evenly spread between men and women.  There was a 3.68 percent risk of having pancreatic cancer before age 70, almost nine times the risk in the general population. Fay Kastrinos, MD, MPH and her team reported their study results in the October 28, 2009 issue of the Journal of the American Medical Association.
• Some colorectal cancer patients whose tumors did not express the epidermal growth factor receptor (EGFR) when tested with immunohistochemical staining still responded to treatment with Erbitux© (cetuximab), when given as a single drug (monotherapy). Seven of 85 patients (8.2 percent) had tumors shrink.  For the group, median time to cancer progression was 2.1 months with median overall survival of 10 months.  About 40 percent of patients were alive one year after treatment began.  Study results were similar to other clinical trials of cetuximab monotherapy restricted to patients with EGFR positive tumors.Rafal Wierzbicki and colleagues published their phase II clinical trial results in Investigational New Drugs, online October 15, 2009.

Other Headlines

• When doctors and patients sat side by side at a semicircular table facing a computer screen during a consultation, they shared more information and patients said they were more satisfied with the visit than in a conventional office.  The computer displayed the patient’s electronic medical record, test results, and Internet pages with other health information.  Watch Dr. Victor Montori of the Mayo Clinic who led the randomized Space and Interaction Trial (SIT) discuss the results.
• Gastroenterologists in Iraq are using their skills — and their colonoscopes — to help military working dogs return to duty.  Deployed in Iraq, the doctors removed buttons, tacks, and rocks swallowed by the dogs.  They also stemmed bleeding, found fungal infections, and discovered a large cancer in one dog, who died.  Leon Kundrotas, MD, FACG and Timothy Cassidy, DO presented their work with military dogs in a poster at the American College of Gastroenterology Annual Meeting in San Diego last week.

Disclosure: C3 has accepted funding for projects and educational programs from Bristol-Myers Squibb and ImClone Systems in the form of unrestricted educational grants. C3 has ultimate authority over website content.