This diagnosis is a reminder that this is the life you’ve got. And you’re not getting another one. Whatever has happened, you have to take this life and treasure and protect it. ~Elizabeth Edwards
The Diagnosis Process
The first process toward determining if you have Lynch syndrome is to research and document a thorough family medical history. The Office of the United States Surgeon General has a computerized program for the convenience of individuals to complete. It can be printed and provided to care providers for assessment of not only Lynch syndrome but all hereditary disorders. As well, the program has the capability to upload the documented family history directly to his/her medical record.
When you research the health of family members and those who came before us, don't hesitate to ask questions and be thorough. Note if there were any hysterectomies or any biopsies taken from family members and from where or if t here were any hospitalizations and for what? For those who passed away from cancers, see if you can get a copy of their medical records or A death certificate.
If the family history reveals three family members who have sustained what appear to be Lynch cancers, (colon, ovarian, endometrial, prostate, gastric tract, pancreatic, ureter, heptobiliary tract, renal pelvic, skin and brain) two of the individuals which are directly related to the third, and one who is under the age of fifty years old, and FAP is ruled out (known as the Amsterdam criteria or the 3-2-1-0 Rule) or is over 5% risk according to the PREMM Model online test, it is quite possible the family members may be at high risk for Lynch syndrome.
However, this criteria isn't foolproof. It is only accurate in less than fifty percent of all families that have Lynch syndrome and is also often not indicated with those who have the MSH-6 and many with PMS2 mutations. There are many families in which Lynch syndrome cancers evolve following the age of fifty and recent studies indicate an average age of 56 years when cancer occurs. There are small families in which it is difficult to find this pattern. Therefore, try to expand your family history as detailed and as far back as possible. Also, be sure and ask about hysterectomies with women family members, and the reason, if known, as endometrial cancer is often as prevalent as colorectal cancer in some Lynch syndrome families.
As stated above, in order to protect one's self and one's family, it is important to discuss Lynch syndrome with the family physician who may or may not prescribe consultation with a genetic counselor. A genetic counselor is a very valuable resource who can determine the appropriate test for an individual in the event the physician is uncertain about Lynch syndrome testing.
Dependent upon that assessment, blood may be drawn and collected for genetic testing or you may be asked to donate DNA by rubbing the inside of your check with a swab (saliva test) If genetic testing cannot be afforded, resources (see Menu for "Support") are available in many parts of the world to assist with costs. Do not hesitate to contact us for assistance. If a mutation of the gene is specifically identified with a family member, (referred to as a proband - the first person in the family to be tested), be sure and note the specific gene and ask for a copy of the family member's laboratory test findings. It is only the first test which is expensive ($1500 to $4500, dependent upon the lab and quality of the test.) For subsequent first, second and third degree family members, the cost of genetic testing is substantially reduced for that specific mutation to approximately $250 to $450 per person, for the test. Additional costs will include the physician referral and the genetic counselor if one is referred.
If an individual has sustained colorectal, endometrial cancer or any other Lynch cancer and has been diagnosed with Lynch syndrome, that individual is referred to as a "Survivor." Prior to the diagnosis of Lynch syndrome, the tumor of the survivor may have been submitted for MSI testing or IHC testing. This process is basically a pathology test of the cancer to determine if characteristics of Lynch syndrome exist within it. It is not a diagnosis of Lynch syndrome.
If those characteristics are identified, guidelines dictate the physician will refer the survivor for genetic testing or consultation with a genetic counselor for consideration of genetic testing of Lynch syndrome. Several major medical associations are calling for universal MSI -IHC testing of ALL colon and endometrial cancer tumors as a basic standard of care. Tumor testing is the second prong toward obtaining genetic testing for Lynch syndrome, along with the first, which is the taking of a family history (without a family member currently experiencing a cancer.)
If an individual has not sustained a Lynch cancer and has been diagnosed with Lynch syndrome, that person is referred to as a "Previvor." This means the diagnosed individual is at high risk for Lynch cancers and will need to participate in regular surveillance testing in the same manner as is afforded to survivors, in order to detect tumors before they become cancerous or metastasize into the body.
This regular surveillance and management for Lynch syndrome is a gift as early detection of cancers allows us to obtain early intervention through early treatment of the cancer or removal of polyps before they become cancerous and often before the cancer becomes life threatening. It is very possible many of our previvors will never experience a full blown cancer. Genetic testing and annual screenings are the closest thing to a cure, for us.