Hereditary Cancer Syndromes can be caused by faulty changes in genes called as “Hereditary Mutations.” These can be passed down from parent to child and cause cancer to run in the family, making it a Hereditary Cancer. Women who carry a mutation in either of BRCA genes have a condition called Hereditary Breast Ovarian Cancers (HBOC) syndrome. Approximately 10-15 percent of Ovarian cancer cases and 10 percent of Breast cancer cases are caused by mutations in the BRCA1 or BRCA2 genes. Some more genes have also been found to be responsible for Hereditary Breast or Ovarian Cancer. In addition, mutation carriers who have already been diagnosed with cancer have a significantly increased risk of developing a second cancer in the future.
Lynch Syndrome is also called Hereditary Non Polyposis Colon Cancer (HNPCC). It caused by mutations in the MLH1, MSH2, MSH6 , PMS2 or EPCAM genes.
Out of 10 people with Lynch syndrome, between 7 to 9 people develop bowel cancer. People with Lynch syndrome are at higher risk of developing cancers like Colorectal cancer, Uterine (endometrial) cancer, Ovarian cancer and Gastric (stomach) cancer. Many other cancers like Melanoma, Retinoblastoma, Wilm’s tumor etc. have been established to have hereditary association.
- Cancer at early age e.g. Breast / Ovary / Endometrial / Colorectal at age 50 or younger.
- Two or more different types of cancer.
- Cancer in both organs in a set of paired organs e.g. Bilateral Breast cancer.
- Unusual presentation of cancer e.g. Breast cancer in a Male.
- Cancer with specific features e.g. Triple negative breast cancer, MSI high colon cancer.
- Cancer under treatment to identify therapy relevant hereditary gene mutations e.g. BRCA and PARP inhibitors.
- Simultaneous analysis of multiple cancer predisposition genes.
- More time- and cost-effective than single gene testing for patients suspicious for multiple hereditary cancer syndromes.
- A greater likelihood of identifying a hereditary cause for cancer.
- Avoidance of false negative assurance given by limited genetic screening which can miss risk causing genetic mutations in other genes.
- A complete diagnostic work-up in a timely fashion without multiple follow-up visits for additional test results.
- Previously identified hereditary cancer gene mutation in the family.
- One or more family members with cancer on the same side of the family.
- A family member with atypical / unusual presentation or multiple cancers in the same person.
- If ScreenGeneTM confirms the presence of any gene mutation associated with Hereditary Cancer risk, several cancer prevention options may become feasible.
- Measures to prevent or delay the onset of certain cancers are feasible with the help of Chemoprevention (risk-reducing medications) or Prophylactic surgery, such as mastectomy or oophorectomy.
- Increased surveillance may detect cancer at an earlier, more treatable stage, when outcomes are better.
- Surveillance frequency can be determined depending on genetic test results with starting of cancer screening at an earlier age and at an increased frequency in mutation carriers.
- Targeted surveillance reduces medical costs and gives preemptive advantage before onset of the disease.
- Improved compliance with tailored screening recommendations and preventive measures.
- Counseling of at-risk family members to undergo relevant genetic test to identify their predisposition.
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