Diseases
Lynch Syndrome IISyndrome
Lynch Syndrome II
Hereditary nonpolyposis colorectal neoplasms associated with other malignancies, more commonly of ovarian or uterine origin. When also associated with SEBACEOUS GLAND NEOPLASMS, it is called MUIR-TORRE SYNDROME.
Syndrome
A characteristic symptom complex.

Hereditary ovarian carcinoma: heterogeneity, molecular genetics, pathology, and management. (1/1)

 (+info)

Lynch Syndrome II is a hereditary condition characterized by the predisposition to develop various types of cancers, such as colon, endometrial, stomach, and ovarian cancer, due to inheriting mutations in both copies of the EPCAM gene and one copy of a DNA mismatch repair gene (MLH1, MSH2, MSH6, or PMS2), resulting in microsatellite instability and increased risk of malignancies throughout life.

Lynch Syndrome II is a genetic disorder also known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC) type II. It is characterized by an increased risk of developing certain types of cancer, including colorectal, endometrial, stomach, small intestine, pancreas, kidney, urinary tract, brain, and skin cancers.

Unlike Lynch Syndrome I (HNPCC type I), which primarily involves mutations in the MLH1 or PMS2 genes, Lynch Syndrome II is caused by mutations in the MSH2 or MSH6 genes. These genes are responsible for DNA mismatch repair, and their malfunction leads to an accumulation of errors during DNA replication, increasing the risk of cancer development.

Individuals with Lynch Syndrome II have a higher lifetime risk of colorectal cancer (up to 80%) and endometrial cancer (up to 60%). The onset of these cancers tends to occur at an earlier age compared to sporadic cases. It is essential for individuals with Lynch Syndrome II to undergo regular cancer screening, including colonoscopies and gynecological examinations, to facilitate early detection and treatment of potential malignancies.

In addition to increased cancer risks, individuals with Lynch Syndrome II may also experience other clinical features such as café-au-lait spots or sebaceous gland tumors. Genetic counseling and testing are recommended for individuals with a family history suggestive of Lynch Syndrome II to assess their risk and develop appropriate surveillance strategies.

A syndrome is a set of symptoms that collectively indicate a specific disease, disorder, or condition, often representing a common pathway or pattern of underlying physiological processes and/or anatomical abnormalities.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

No FAQ available that match "lynch syndrome ii"

No images available that match "lynch syndrome ii"