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Colon Cancer
by Yael Rosenberg, RN
Description
Colon cancer affects the colon which is the lowest part of the of
the digestive system. It usually start out with polyps (which are
benign growths) found on the lining of the colon, When these growths
start growing at a rapid rate they become malignant and cancerous.
Risk Factors
• Age — Most colon and rectal cancers, also called
colorectal cancer, develop in people age 40 and older, and risk
increases with advancing age
• Family history — Close relatives of a person who
has had colon or rectal cancer have a higher-than-average risk of
developing the disease. In cases where many relatives have had it, known
as familial colorectal cancer, the risk is even greater
• Polyps — Many colorectal cancers develop from
polyps which are multiple, small, tumor-like growths in the colon A
non-cancerous polyp may become cancerous over time, which makes removal
an important step in prevention. Familial Polyposis is an inherited
condition that leads to the development of many polyps in the colon and
rectum. Inflammatory Bowel Diseases, such as chronic ulcerative colitis
and Crohn's disease
• Ulcerative Colitis —These conditions cause inflammation
of the lining and wall of the bowel. Scientists believe that colorectal
cancer may result from cell overgrowth when new cells are generated to
replace the diseased tissue
• Diet — A diet high in fat and low in fruits,
vegetables, and high-fiber foods such as whole grain breads and cereals,
has been linked to increased risk of colorectal cancer. In most studies,
the food most strongly linked to increased risk of colon cancer was red
meat.
Colorectal cancer rates in the Ashkenazi Jewish population are
disproportionately high, possibly the highest of any ethnic group
worldwide. Most of the cases are not genetic; however there are two
known mutations that increase the risk of developing colorectal cancer.
The two genetic mutations associated with Ashkenazi Jewish ancestry.
• A mutation (I1307K) in the APC (Adenomatous
Polyposis Coli) gene places one at increased risk of developing
colon cancer, and some have suggested that Ashkenazi Jewish patients
with a familial history of colon cancer be tested for this specific
mutation.
• Lynch Syndrome or HNPCC (Hereditary Nonpolyposis Colorectal Cancer) is
an autosomal dominant genetic disorder that elevates the risk of colon
cancer. Not only do families with Lynch syndrome have more cases of
colon cancer, but they tend to occur at an earlier age. The disorder is
the result of mutation of several genes (MLH1, MSH2, MSH6, and PMS2)
which are involved in repairing mistakes when DNA replicates. Not all
those individuals who carry the mutations develop cancers.
Symptoms
• Any change in bowel habits
• Diarrhea, constipation, or feeling that the bowel does not
empty completely
• Blood (either bright red or very dark) in the stool (often
seen as coffee ground)
• Stools that are narrower than usual often stringy
• General abdominal discomfort (frequent gas pains, bloating,
fullness, and/or cramps)
• Weight loss with no known reason
• Constant tiredness
• Vomiting
Incidence and Carriers
The I1307K is one specific APC mutation that is found in 6%
Ashkenazi Jews and 1-2% of Sephardi Jews. These carriers of the
mutation have a 10-20% risk of developing colorectal cancer, which
is slightly more than double then in the general population. They
usually do not develop the hundreds of polyps present in those with
classic FAP. In the United States of America approximately two to
seven percent of the 160,000 cases of colorectal cancer diagnosed
yearly are due to Lynch Syndrome. There is a specific mutation of
the MSH2 gene (G1906K) that has been found in two to three percent
of all colorectal cancers in Ashkenazi Jews under the age of 60. One
third of Ashkenazi Jews who meet the criteria for HNPCC genetic
testing are found to have the MSH2 mutation. Furthermore this
mutation is even more prevalent (7%) of Ashkenazi Jews diagnosed
under the age of 40. However, for those Ashkenazi Jews diagnosed
after the age of 60, the mutation is found in less than one percent.
Treatment
Colon Surgery
The main treatment for colon cancer is surgery, in which the cancer
and a length of normal tissue on either side of the cancer are
removed, as well as the nearby lymph nodes.
Radiation Therapy
Radiation therapy is the use of high energy radiation to kill cancer
cells either after surgery, to kill small areas of cancer that may
not be seen during surgery, or instead of surgery. There are two
ways to deliver radiation therapy:
• External beam radiation uses radiation from outside the body,
which is focused on the cancer.
• Internal radiation therapy uses small pellets of radioactive
material placed directly into the cancer.
Chemotherapy
Drugs (medications) are given into a vein or by mouth to kill cancer
cells throughout the body. Studies have shown that chemotherapy
after surgery can increase the survival rate for patients with some
stages of colon cancer. Chemotherapy can also help relieve symptoms
of advanced cancer.
Tumor vaccines
Tumor vaccines, now in clinical trials for colorectal cancer, are an
attempt to re-educate the body to attack tumor cells. For reasons
still unknown, at some point the body stops attacking cancer cells,
even though evidence suggests that it does mount an immune attack
against cancer cells when they are still small and few in number.
Stem cell support
Use of stem cell support in conjunction with chemotherapy for
colorectal cancer is in clinical trials. Stem cells are very young
blood cells that can repopulate depleted bone marrow. Reintroducing
stem cells to the body after high-dose treatment permits very high
doses of chemotherapy or radiotherapy to be used (since doses high
enough to kill all cancer also destroy bone marrow).
Testing
Diagnosis
• Fecal Occult Blood Test - is a test used to detect small
amount of bleeding in the stool.
• Sigmoidoscopy - is an examination of the rectum and lower
colon (sigmoid colon) using a lighted instrument or scope.
• Colonoscopy - is an examination of the rectum and entire colon
using a lighted instrument or scope.
• Double Contrast Barium Enema - patient is given an enema with
a solution that contains barium, which outlines the colon and rectum
on the x-rays.
• Digital Rectal Exam - is an exam in which the doctor inserts a
lubricated, gloved finger into the rectum to feel for abnormal areas
• biopsy
• CEA assay - measures a protein called carcinoembryonic
antigen, which is sometimes higher in patients who have colorectal
cancer.
Screening Recommendations
The AHCPR panel recommended that, beginning at age fifty, persons at
average risk for colorectal cancer undergo one of the following
screening regimens:
• Fecal occult blood testing annually
• Flexible sigmoidoscopy every five years.
• Fecal occult blood testing annually and flexible sigmoidoscopy
every five years.
• Double-contrast barium enema every five to 10 years
• Colonoscopy every 10 years.
Laboratories and Screening
The following laboratories offer genetic testing for either APC or
MSH2 mutations:
See Adenomatous Polyposis Coli for
information on laboratories that test for the APC I1307 gene
mutation
• United States
• Israel
• Canada
• Europe
• South America: Argentina
• South Korea
UNITED STATES
Ambry Genetics
100 Columbia #200
Aliso Viejo, CA 92656
Toll Free (866) 262-7943
Phone (949) 900-5500
Fax (949) 900-5501
ARUP Laboratories
500 Chipeta Way
Salt Lake City, UT 84108-1221
Phone:
(800) 522-2787
Fax:
(800) 522-2706 (fax)
Email:
clientservices@aruplab.com
Baylor Medical Genetic Laboratories
Medical Genetics Laboratories
Baylor College of Medicine
One Baylor Plaza, NAB 2015
Houston, TX 77030
Toll Free: (800) 411-GENE (4363)
Fax: (713) 798-2787
Email: genetictest@bcm.edu
Client Services Manager
Alejandra Quick
Phone: (713) 798-7656
Fax: (713) 798-2787
Email: ahquick@bcm.edu
MSH2-Related Hereditary Non-Polyposis Colon Cancer
Boston University School of Medicine- Human Genetics
700 Albany Street
Suite 408
Boston, MA 02118-2394
Phone: (617) 638-7083
Fax: (617) 638-7092
City of Hope
Molecular Diagnostic Laboratory
1500 East Duarte Road
Northwest Building - Second Floor, Room 2236
Duarte, CA 91010
Toll Free: (888)-8 COH DNA (888-826-4362)
Fax: (626) 301-8142
Email: mdl@coh.org
Harvard Medical School and Partners Healthcare
Laboratory for Molecular Medicine
Cambridge, MA
Phone: (617) 768-8500
Email: LMM@partners.org
Huntington Medical Research Institutes
Faye A. Eggerding, M.D., Ph.D.
Director, Molecular Oncology Laboratory
99 North El Molino Avenue
Pasadena, California 91101
Phone: (626) 795-4343
Fax: (626) 795-5774
Colon Cancer (APC I1307K related), MSH2-Related Hereditary
Non-Polyposis Colon Cancer
Mayo Medical Laboratories
3050 Superior Drive NW
Rochester, MN 55901
Phone: (800) 533- 1710
Phone: (507) 266-5700
Fax: (507) 284-4542
Myriad Genetic Laboratories, Inc
320 Wakara Way
Salt Lake City, UT 84108
Roa Benjamin, PhD, Director
Phone: (800) 469-7423
Fax: (801) 584-3615
PreventionGenetics
Molecular Diagnostics and BioBanking
3700 Downwind Drive
Marshfield, Wisconsin 54449 USA
Phone: (715) 387-0484
Fax: (715) 384-3661
Quest Diagnostics-Nichols Institute
Molecular Genetics Laboratory
Medical Director, Charles Strom, MD, PhD
33608 Ortega Highway
San Juan Capistrano, CA 92690
Contact: Joy Redman, MS, Genetic Counselor
Phone: (949) 728-4279
Fax: (949) 728-4874
ISRAEL
Carmel Medical Center
Molecular Genetics Laboratory
Michal Street , Haifa 34362
Telephone: (+972)-4-8250407
Adenomatous Polyposis Coli (I1307K), MSH2-Related Hereditary
Non-Polyposis Colon Cancer
GGA –Galil Genetic Analysis Ltd
P.O.B. 3664
Kazerin, Hatzafon, Israel 12900
Phone: (+972) 4-9007100
Fax: (+972) 4-9007111
Email: gga@gga.org.il
Adenomatous Polyposis Coli, MSH2-Related Hereditary Non-Polyposis
Colon Cancer
Hadassah Hospital Hadassah Ein Karem
Human Molecular Genetic Laboratory
Dr. Israela (Issy) Lerer (Director)
POB 12000
Jerusalem 91120
Israel
Phone: (+972) 2-677-6016
Fax: (+972) 2-677-7499
Web: http://www.hadassah.org.il
Pronto Diagnostic Ltd.
19A Habarzel Street
Ramat Hachayal
Tel Aviv, Israel 69710
Phone: (+972) 73-312-6155
Fax: (+972) 73-212-6144
Email:
info@prontodiagnostics.com
Adenomatous Polyposis Coli (I1307K), MSH2-Related Hereditary
Non-Polyposis Colon Cancer
Rabin Medical Center
Molecular Genetics
Petah Tikva, Israel
Director: Mordechai Shohat, MD
Genetic Counselor: Inbal Kedar, MSc
Phone: (+972) 3-937-7659
Fax: (+972) 3-937-7660
Email: inbalkd@clalit.org.il
Adenomatous Polyposis Coli (I1307K), MSH2-Related Hereditary
Non-Polyposis Colon Cancer
Rambam Medical Center, Molecular Genetics Laboratory
PO Box 9602 Haifa 31096 Israel
Phone: (+972)- 4-8542456
Adenomatous Polyposis Coli, MSH2-Related Hereditary Non-Polyposis
Colon Cancer
Shaare Zedek Medical Center
Medical Genetics Institute
Jerusalem, Israel
Phone: (+972) 2-666-6435
fax: (+972) 2-666-6935
Sheba Medical Center
The Danek Gertner Institute Human Genetics
Molecular diagnosis Laboratory
Tel Hashomer; Ramat Gan . 52621, Israel
Phone: (+972)-3-5303060
Web:
http://www.eng.sheba.co.il
Adenomatous Polyposis Coli (I1307K), MSH2-Related Hereditary
Non-Polyposis Colon Cancer
Tel Aviv Sourasky Medical Center
Genetic Lab
Sourasky Builidng, 1st Floor, Wing 1
Tel Aviv, Israel
Phone: (+972) 3-697-4704
Phone: (+972) 3-697-3992
Fax: (+972) 3-697-4555
Web: http://www.tasmc.org.il
Western Galilee Hospital-Naharia
Molecular Genetics Laboratory
P.O.Box 21
Naharia 2100 Israel
EUROPE
• Denmark
• Finland
• Germany
• Netherlands
• Spain
• United Kingdom
DENMARK
Aarhus University Hospital
Dept. of Molecular Medicine (MOMA)
Molecular Diagnostic Laboratory
Skejby Sygehus
Brendstrupgårdsvej 100
8200 Århus N
Denmark
Phone: (+45) 8-949-9430 Lab
Phone: (+45) 8-949-9410
Email: contact@mdl.dk
Email:
lisbeth.norum@ki.au.dk
Amplexa Genetics
Tolderlunvej 3B, 2
DL-5000 Odenske C, Denmark
Phone (+45) 6611-6628
Fax: (+45) 6616678
Email: info@amplexa.com
FINLAND
HUSLAB Laboratory of Molecular Genetics
Obstetric Hospital
Haartmaninkatu 2, C-wing, 5th floor
FI-00029 Helsinki, Finland
Sample enquiries: (+358) 9-471 74339
Service enquiries: (+358) 9-471 75905
Fax (+358) 9-471 74001
Contact persons:
Specialist in Medical genetics
Phone: (+358) 9-471 75905
GERMANY
Centogene GmbH
Schillingalee 68
18057 Rostock
Germany
Phone: (+49) 381-203652-0
Fax: (+49) 381-203652-19
Email: office@centogene.com
Diagenom GmbH
Robert-Koch-Str. 10
D-18059 Rostock
Germany
Phone: (+49) 381-702-2750
Fax: (+49) 381-702-2759
Email: mail@diagenom.de
Institute of Medical Diagnostics
Human Genetics
Nicolaistr. 22
Berlin, Germany 12247
Contact: Stephan Niemann, MD, PhD
Phone: (+49) 307-7001 ext 211
Fax: (+49) 307-7001 ext 332
Email:
sniemann@imd-berlin.de
MGZ
Medical Genetics Center
Bayerstraße 3-5 (durch die Mathäser-Passage)
Eingang Schlosserstraße 6
80335 München
Phone: (+49) 89-30 90 886-0
Fax: (+49) 89-30 90 886-66
Email:
info@mgz-muenchen.de
Ruhr University
Universitaetsstrasse 150
44801 Bochum / Germany
Tel. +49 234 3223839
Contact: Stefan Wieczorek, MD
Phone: (+49) 234-322-3831
Fax: (+49) 234-321-4196
Email:
stefan.wieczorek@rub.de
Institute of Medical Diagnostics
Human Genetics
Nicolaistr. 22
Berlin, Germany 12247
Contact: Stephan Niemann, MD, PhD
Phone: (+49) 307-7001 ext 211
Fax: (+49) 307-7001 ext 332
Email:
sniemann@imd-berlin.de
NETHERLANDS
Academic Medical Centre, University of Amsterdam
DNA Diagnostics Laboratory
Amsterdam, Netherlands
Contact: Marcel M.A.M. Mannens, PhD
Phone: +31 205667899
Fax: +31 2056699689
Email: kg dna@amc.uva.nl
SPAIN
Innovagenomics S.L.
c/Fonseca 2
37002 Salamanca Spain
Phone: (+34) 923294500 Ext. 3349
Director: A. Martínez, PhD
Phone: (+34) 675 686 587
Email:
info@innovagenomics.es
IMEGEN (Instituto de Medicina Genómica, S.L.)
Science Park. University of Valencia
C/ Catedrático Agustín Escardino, 9
E46980 Paterna (Valencia)
SPAIN
Phone: (+34) 963 212 340
Fax: (+34) 963 212 341
Email:
info@imegen.es
Sistemas Genomicos SL
Medical Genetics Unit
Parque Tecnológico de Valencia
Ronda G. Marconi, 6
46980 Paterna (Valencia)
Phone: (902) 364 669
Fax: (902) 364 670
Contact: David Garcia, MSc
Email:
david.garcia@sistemasgenomicos.com
UNITED KINGDOM
Addenbrooke's Hospital
Molecular Genetics Laboratory
Box 158,
Level 6,
Addenbrooke's Treatment Centre,
Cambridge University Hospitals NHS Foundation Trust
Hills Road,
Cambridge,
CB2 0QQ
Phone: (012) 23 348 866
Fax: (012) 23 348 870
Becky Treacy FRCPath/Deputy Director Genetics Laboratories (Head of
Molecular Genetics)
Phone: (012) 23 348 801
Email:
becky.treacy@addenbrookes.nhs.uk
All Wales Molecular Genetics Laboratory
Institute of Medical Genetics
University Hospital of Wales
Heath Park
Cardiff CF14 4XW
Contact: Sheila Palmer-Smith, DipRCPath
Phone: (+44) 292-0742641
Fax: (+44) 292-0744059
Northwick Park and St. Mark's Hospitals
Kennedy-Galton Centre - NW Thames Regional Genetics Service
Harrow, United Kingdom
Director: Stewart Payne, DipRCPath
Phone: (+44) 208-8693180
Fax: (+44) 208-8693106
Email:
stewart.payne@nwlh.nhs.uk
Sheffield Children's NHS Foundation Trust
Sheffield Diagnostic Genetics Service
Sheffield, United Kingdom
Contact: Nick Beauchamp, PhD
Phone: (+44) 114 271 7003
Fax: (+44) 114 275 0629
Email:
nick.beauchamp@sch.nhs.uk
SOUTH AMERICA: ARGENTINA
Hospital Italiano de Buenos Aires
ICBME - Unidad de Medicina Molecular y Genómica
Buenos Aires, Buenos Aires, Argentina
Phone: (+54) 1149590200 ext 9374
Fax: (+54) 1149590200 ext 4155
Email: umogen@hiba.org.ar
SOUTH KOREA
Samsung Laboratory of Medicine
50, Irwon - Dong, Gangnam - Gu,
SEOUL , KOREA 135 - 230
Phone: (+82) 2 - 3410 -6469
Fax: (+82) 2 -3410 - 0022
Email:
samsunglab.smc@samsung.com
Web:
http://www.samsunglab.org
Resources and More
Colon Cancer Alliance, Inc.
175 Ninth Avenue
New York, NY 10011
Phone: (212) 627-7451
Toll Free Help-line: (877) 422-2030
Fax: (425) 940-6147
Web:
http://www.ccalliance.org/
American Society of Colon & Rectal Surgeons
Telephone: 847-290-9184
Fax: (847) 290-9203
85 W. Algonquin Road, Suite 550
Arlington Heights, IL 60005
Email: ascrs@fascrs.org
Web: http://www.fascrs.org
- This society offers a variety of brochures including several on
colonoscopy and colorectal cancer. They can also provide listings of
colorectal surgeons in your area.
Lynch Syndrome International
P.O. Box 5455
Vacaville CA 95688
Phone: (707) 689-5089
Web: http://www.lynchcancers.com
Support Groups
Colon Cancer Discussion List
Association of Cancer Online Resources
173 Duane Street, 3rd Floor
New York, NY 10013-3334
Website:
http://www.acor.org/colon.html
- The Colon Cancer Discussion List is provided by Association of
Cancer Online Resources, Inc. (ACOR), a non-profit organization that
provides information and support to cancer patients and those who
care for them through the creation and maintenance of cancer related
Internet mailing lists and Web-based resources. On the Colon Cancer
Discussion list about 600 people regularly answer questions,
exchange information and provide support to those dealing with
colorectal cancer
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