HPCC disease refers to Hereditary Nonpolyposis Colorectal Cancer, now more commonly known as Lynch syndrome. It is an inherited genetic condition that significantly elevates the risk of developing various cancers, most notably colorectal cancer.
Understanding Lynch Syndrome (Formerly HNPCC)
Lynch syndrome is a significant hereditary cancer syndrome. Here's a breakdown:
- Genetic Basis: It's caused by inherited mutations in genes that are responsible for DNA mismatch repair. These genes normally correct errors that occur when DNA is copied.
- Increased Cancer Risk: Individuals with Lynch syndrome have a much higher chance of developing cancers, especially colorectal cancer. According to the reference, Lynch syndrome "is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer."
- Other Associated Cancers: Besides colorectal cancer, Lynch syndrome increases the risk of endometrial (uterine), ovarian, stomach, small bowel, pancreatic, urinary tract, brain, and skin cancers.
Key Features of Lynch Syndrome
| Feature | Description |
|---|---|
| Inheritance | Inherited genetic mutations |
| Primary Cancer Risk | Colorectal cancer (cancer of the colon and rectum) |
| Other Cancer Risks | Endometrial, ovarian, stomach, small bowel, pancreatic, urinary tract, brain, and skin cancers |
| Previous Name | Hereditary Nonpolyposis Colorectal Cancer (HNPCC) |
Diagnosis and Management
Diagnosis often involves:
- Family History: Assessing for a family history of Lynch syndrome-associated cancers.
- Tumor Testing: Analyzing tumor tissue for specific markers.
- Genetic Testing: Confirming the presence of a mutation in one of the mismatch repair genes.
Management strategies for individuals with Lynch syndrome include:
- Increased Surveillance: Regular colonoscopies, upper endoscopies, and other screenings to detect cancers early.
- Preventive Surgery: In some cases, prophylactic surgery (e.g., hysterectomy and oophorectomy) may be considered to reduce the risk of certain cancers.
- Chemoprevention: Aspirin has shown some promise in reducing the risk of colorectal cancer in individuals with Lynch syndrome.
