Bay Biosciences provides fresh frozen tumor tissue samples with matched serum, plasma, peripheral blood mononuclear cells (PBMC) samples from unique patients diagnosed with lynch syndrome or hereditary non-polyposis colorectal cancer (HNPCC).

Lynch Syndrome (HNPCC) Overview

Lynch syndrome, or Hereditary Nonpolyposis Colorectal Cancer (HNPCC), is an inherited disorder. Specifically, it is a cancer syndrome associated with a genetic predisposition to different cancer types. Consequently, this means people with Lynch syndrome have a higher risk of certain types of cancer.

Moreover, HNPCC increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum. Furthermore, people with Lynch syndrome also have an increased risk of cancers.

In particular, women patients with Lynch syndrome or HNPCC have a high risk of ovarian cancer and endometrial cancer. In fact, Lynch syndrome is among the most common hereditary cancer syndromes.

Additionally, cancers associated with Lynch syndrome are more likely to be diagnosed at a young age.

Moreover, patients with Lynch syndrome also face an increased risk of developing multiple types of cancers during their lifetime.

 

 

Lynch Syndrome (HNPCC) Signs and Symptoms

Patients with Lynch syndrome may experience the following symptoms:

  • Firstly, hereditary non-polyposis colorectal cancer (HNPCC) may not present with any symptoms (asymptomatic). Despite the name, HNPCC does cause the formation of polyps. However, these are far fewer than seen in familial adenomatous polyposis.
  • Furthermore, these polyps are generally not cancerous at first but can become cancerous within two to three years.
  • Moreover, individuals may develop other types of cancers with mismatch repair deficiency (MMR-D) or high-level microsatellite instability (MSI-H).

Additional Symptoms

  • Notably, females have a higher risk of endometrial and ovarian cancer (39 and 9 percent, by the age of 70). 
  • In addition, developing colorectal cancer linked with Lynch syndrome can occur separately or at the same time.
  • Furthermore, the lifetime risk of hereditary non-polyposis colorectal cancer patients developing colorectal cancer.
  • It is also important to note the colorectal cancer in one first-degree relatives who also have another Lynch syndrome-related cancer. The phrase first-degree relatives includes parents, siblings, and children.
  • “Colorectal cancer occurs in 2 or more first- or second-degree relatives with another Lynch syndrome-related cancer. Specifically, second-degree relatives include aunts, uncles, grandparents, grandchildren, nephews, and nieces.

Causes of Lynch Syndrome (HNPCC)

Lynch syndrome runs in families in an autosomal dominant inheritance pattern. Specifically, this means that if one parent carries a gene mutation for Lynch syndrome, there’s a 50 percent chance that they will pass that mutation on to each child.

Furthermore, the risk of Lynch syndrome is the same whether the gene mutation carrier is the mother or father or whether the child is a son or daughter. In essence, Lynch syndrome is a genetic condition. Consequently, this means that families can pass the cancer risk from generation to generation. Moreover, these types of mutations are called inherited, or germline, mutations.

Additionally, alterations in several genes involved in DNA mismatch repair link to Lynch syndrome. In particular, they include the genes of MLH1, MSH2, MSH6, PMS2, and EPCAM. Thus, a mutation (alteration) in any of these genes gives a person an increased lifetime risk of developing colorectal cancer and other related cancers.

Moreover, women also have an increased risk of developing endometrial and ovarian cancers. However, not all families that appear to have Lynch syndrome will have identifiable alterations in MLH1, MSH2, MSH6, PMS2, or EPCAM. As a result, research is ongoing to identify other genes associated with Lynch syndrome.

Some people will develop changes in these genes that are not inherited; however, they occur due to the body’s aging process and other causes that are not well understood. Consequently, these types of mutations are called acquired. If a doctor finds a tumor with alterations in these genes, they will also test the person’s blood for that abnormal gene.

Furthermore, if the blood and tumor both have the changed gene, the condition is inherited rather than acquired, meaning that, in turn, other family members could be affected.

Diagnosis of Lynch Syndrome (HNPCC)

Patients who doctors suspect have Lynch syndrome (HNPCC) usually have a family history of colon cancer, endometrial cancer, and other cancers. Consequently, this may lead to further clinical investigation, as well as other tests and procedures to diagnose Lynch syndrome (HNPCC).

Family History

In addition, your doctor may refer you for further Lynch syndrome (HNPCC) evaluation if you have:

  • Multiple relatives with any Lynch-associated tumors, including colorectal cancer. Specifically, examples of other Lynch (HNPCC)-associated tumors include those that affect the endometrium, ovaries, stomach, small intestine, kidney, brain, or liver.
  • Furthermore, family members who doctors diagnose with cancer at ages that are younger than the average for their type of cancer may also be considered. Additionally, more than one generation of family affected by a type of cancer is a significant factor.

Tumor Testing

Once the doctor diagnoses the patient with cancer, a special histology testing may subsequently reveal whether the tumor has specific characteristics, particularly the microscopic anatomy of Lynch syndrome (HNPCC) cancers. Moreover, researchers can use samples of cells from a colon cancer, and sometimes from other tumors, for tumor histology testing.

Ultimately, tumor testing can reveal whether the genes related to Lynch syndrome caused the cancer.

Tumor tests include:

  • Immunohistochemistry (IHC) testing: Specifically, IHC testing uses special dyes to stain tissue samples. Consequently, the presence or absence of staining indicates whether certain proteins are present in the tissue. Moreover, missing proteins may tell doctors which mutated gene caused the cancer
  • Additionally, there is microsatellite instability (MSI) testing. In this context, microsatellites are sequences of DNA. In patients with Lynch syndrome, errors or instability may occur in these sequences in the tumor cells.

Furthermore, positive immunohistochemistry (IHC) or microsatellite instability (MSI) genetic test results indicate that malfunctions exist in the genetic material that are connected to Lynch syndrome (HNPCC).

However, the results cannot confirm Lynch syndrome (HNPCC) because, in some cases, patients develop these genetic mutations only in their cancer cells. In contrast, patients with Lynch syndrome have these genetic mutations in all of their cells. Therefore, genetic testing can determine whether the patient has these mutations.

Moreover, more frequently, medical professionals offer immunohistochemistry (IHC) or microsatellite instability (MSI) testing to patients diagnosed with colon cancer or endometrial cancer to look for Lynch syndrome (HNPCC). Ultimately, doctors hope this will help identify and preempt families with Lynch syndrome (HNPCC) that don’t meet the usual criteria for genetic testing.

Genetic Testing

Genetic testing looks for changes in the genes that indicate whether a patient has Lynch syndrome (HNPCC). Additionally, you may need to give a sample of your blood for genetic testing. Using special laboratory analysis, doctors examine the specific genes that can have mutations that cause Lynch syndrome (HNPCC).

Genetic testing may show the following:

  • Firstly, a positive genetic testing result: A positive genetic test result, meaning that a gene mutation was discovered, doesn’t indicate that you have cancer or will get cancer. However, it does mean that your lifetime risk of developing certain cancers is high.
  • Moreover, the increased high risk depends on which specific gene your family mutates and whether you undergo cancer screening or risk-reducing procedures to decrease your risk of cancer. Usually, a genetic counselor can explain your individual’s risk of developing certain cancers based on the results.
  • On the other hand, a negative genetic test result: A negative genetic test result means that a gene mutation wasn’t found and indicates that you likely don’t have Lynch syndrome (HNPCC). Nevertheless, you may still have an increased risk of cancer if you have a strong family history of cancer. Lastly, a gene variation of unknown significance:
  • Additionally, a gene variation of unknown significance: Genetic tests don’t always give you a yes or a no answer about the cancer risk. Moreover, sometimes genetic testing reveals a gene variation with an unknown significance. Furthermore, your genetic counselor can explain the implications of this result to you.

Biospecimens

biospecimens

Bay Biosciences is a global leader in providing researchers with high quality, clinical grade, fully characterized human tissue samples, bio-specimens, and human bio-fluid collections.

Human biospecimens are available including cancer (tumor) tissue, cancer serum, cancer plasma, cancer peripheral blood mononuclear cells (PBMC). and human tissue samples from most other therapeutic areas and diseases.

Bay Biosciences maintains and manages its own biorepository, the human tissue bank (biobank) consisting of thousands of diseased samples (specimens) and from normal healthy donors for controls, available in all formats and types.

In fact, our biobank procures and stores fully consented, de-identified and institutional review boards (IRB) approved human tissue samples, human biofluids such as serum samples, plasma samples from various diseases and matched controls.

Also, all our human tissue collections, human biospecimens and human biofluids are provided with detailed, samples associated patient’s clinical data.

In fact, this critical patient’s clinical data includes information relating to their past and current disease, treatment history, lifestyle choices, biomarkers, and genetic information.

Additionally, researchers find the patient’s data associated with the human biospecimens extremely valuable and use it to help identify new effective treatments (drug discovery & development) in oncology, as well as in other therapeutic areas and diseases.

Bay Biosciences banks wide variety of human tissue samples and human biological samples, including fresh frozen human biospecimens cryogenically preserved at – 80°C.

For example fresh frozen tissue samples, tumor tissue samples, formalin-fixed paraffin-embedded (FFPE), tissue slides, with matching human bio-fluids, whole blood and blood-derived products such as human serum, human plasma and human PBMCs.

Bay Biosciences is a global leader in collecting and providing human tissue samples according to the specified requirements and customized, tailor-made collection protocols.

Please contact us anytime to discuss your special research projects and customized human tissue sample requirements.

Types of Biospecimens

Bay Biosciences provides human tissue samples (human specimens) and human biofluids from diseased and normal healthy donors which includes:

Moreover, we can also procure most human biospecimens, special collections and requests for human samples that are difficult to find. All our human tissue samples and human biofluids are procured through IRB-approved clinical protocols and procedures.

In addition to the standard processing protocols, Bay Biosciences can also provide human biofluids such as  human plasma, human serum, and human PBMCs bio-fluid samples using custom processing protocols; you buy donor-specific collections in higher volumes and specified sample aliquots from us.

Bay Biosciences also provides human biospecimens from normal healthy donors; volunteers, for controls and clinical research, Contact us Now.