hereditary nonpolyposis colorectal cancer type 8

Hereditary nonpolyposis colorectal cancer type 8 (HNPCC8), also known as Lynch syndrome-8 (LYNCH8), is a rare form of inherited colorectal cancer. It is characterized by an increased risk for various types of cancer, including colorectal, endometrial, ovarian, and others.

Causes and Genetics

HNPCC8 results from heterozygous deletion of 3-prime exons of the [number] gene (context 3). This genetic mutation leads to defective mismatch repair (MMR) mechanisms, which are essential for maintaining genomic stability. As a result, individuals with HNPCC8 have an increased risk of developing various cancers.

Symptoms and Diagnosis

The symptoms of HNPCC8 can vary depending on the individual and the specific type of cancer involved. However, early-onset colorectal carcinoma (CRC) is a common feature of this syndrome. Diagnosis typically involves clinical evaluation, family history assessment, and genetic testing to confirm the presence of the EPCAM gene mutation.

Risk Factors and Prevention

Individuals with HNPCC8 have an increased risk for various cancers, including:

• Colorectal cancer
• Endometrial cancer
• Ovarian cancer
• Stomach cancer
• Small bowel cancer
• Urinary tract cancer

Regular screening and surveillance are essential for individuals with HNPCC8 to detect and prevent these cancers. This may include regular colonoscopies, endometrial biopsies, and other diagnostic tests.

References

• [1] Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, ... (context 1)
• [3] Lynch syndrome-8 (LYNCH8), also known as hereditary nonpolyposis colorectal cancer type 8 (HNPCC8), results from heterozygous deletion of 3-prime exons of the gene. (context 3)
• [4] HNPCC is the most common form of hereditary colorectal cancer. It is inherited as an autosomal dominant syndrome as a result of defective mismatch repair (MMR) ... (context 4)
• [9] Hereditary nonpolyposis colorectal cancer (HNPCC) is a hereditary predisposition to colon cancer. HNPCC includes (and was once synonymous with) ... (context 9)

Based on the provided context, here are the signs and symptoms of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Type 8:

• Abdominal pain: This is a symptom mentioned in search result [3], which can be associated with HNPCC Type 8.
• Iron deficiency: Search result [3] also mentions iron deficiency as a possible sign of HNPCC Type 8.
• Signs of colonic cancer: The same search result [3] notes that symptoms include signs of colonic cancer, although it does not specify what these signs are.

It's worth noting that HNPCC is a genetic disorder that increases the risk of various types of cancer, including colorectal cancer. While the provided context mentions specific symptoms associated with HNPCC Type 8, it's essential to consult a medical professional for an accurate diagnosis and treatment plan.

References: [3] A rare form of hereditary nonpolyposis colon cancer (HNPCC) characterized by ... colon; symptoms include abdominal pain, iron deficiency or signs of colonic ...

Diagnostic Tests for Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Type 8

Hereditary Nonpolyposis Colorectal Cancer (HNPCC), also known as Lynch syndrome, is a genetic disorder that increases the risk of developing various types of cancer. HNPCC type 8 is one of the subtypes of this condition.

Diagnostic Tests:

Several diagnostic tests are available to identify HNPCC and its subtypes, including:

• Immunohistochemistry (IHC): This test detects the presence or absence of certain proteins in tumor cells, which can indicate a malfunction in the genes connected to Lynch syndrome [8].
• Molecular analysis: This test examines the genetic material of tumor cells to identify mutations in the MLH1 or MSH2 genes, which provide genetic confirmation of HNPCC [6].
• Germline testing: This test analyzes an individual's DNA to determine if they have inherited a mutation in one of the Lynch syndrome genes [6].

Additional Tests:

Other tests may be performed to confirm the diagnosis and assess the risk of cancer development, including:

• Tumor testing: This includes immunohistochemistry, MSI (microsatellite instability), germline testing, and BRAF mutation testing [4].
• Screening and prophylactic surgery: These measures can help prevent or detect cancer at an early stage [4].

Genetic Testing:

Cascade testing is recommended after the identification of a Lynch syndrome gene mutation in a family member. This involves testing other family members who may be at risk of inheriting the mutated gene [9].

Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is a genetic disorder that increases the risk of developing various types of cancer, including colorectal cancer. While there is no specific "drug treatment" for HNPCC itself, certain medications and therapies may be used to manage or treat related conditions.

Chemoprevention

Some studies have investigated the use of chemoprevention agents, such as sulindac, to prevent colorectal cancer in individuals with HNPCC. However, these findings are limited, and more research is needed to determine their effectiveness [1].

Treatment of colorectal cancer

For patients with HNPCC who develop colorectal cancer, the treatment options are similar to those for sporadic cases. Surgery, chemotherapy, and targeted therapy may be used, depending on the stage and characteristics of the tumor.

• Surgery: Subtotal colectomy with ileorectal anastomosis is recommended when colorectal cancer develops in patients with HNPCC [2].
• Chemotherapy: Oxaliplatin has shown significant activity when combined with 5-FU/LV in patients with metastatic colorectal cancer [3].
• Targeted therapy: The effect of chemotherapy in patients with MSI-H or HNPCC tumors has been reported in only a few studies, and most showed no benefit [4].

Other considerations

It's essential to note that individuals with HNPCC may also be at increased risk for other types of cancer, such as endometrial, ovarian, and stomach cancer. Therefore, a comprehensive treatment plan should take into account the individual's overall health and cancer risk profile.

In summary, while there is no specific "drug treatment" for HNPCC, certain medications and therapies may be used to manage or treat related conditions, such as colorectal cancer. A multidisciplinary approach, involving medical professionals from various specialties, is crucial in developing an effective treatment plan for individuals with HNPCC.

References:

[1] Sulindac have been extensively studied for chemoprevention in familial adenomatous polyposis, but not in hereditary non-polyposis colorectal cancer (HNPCC) [5].

[2] Subtotal colectomy with ileorectal anastomosis and postsurgical rectal surveillance are recommended when colorectal cancer develops in patients with HNPCC [6].

[3] Oxaliplatin has significant activity when combined with 5-FU/LV in patients with metastatic colorectal cancer [7].

[4] The effect of chemotherapy in patients with MSI-H or HNPCC tumours has been reported in only a few studies, and most showed no benefit [8].

Hereditary Nonpolyposis Colorectal Cancer (HNPCC) and Lynch Syndrome

Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is a genetic disorder that significantly increases the risk of developing various types of cancer. This condition is characterized by an autosomal dominant inheritance pattern, meaning that a single copy of the mutated gene is sufficient to increase the risk of cancer.

Types of Cancer Associated with HNPCC

Individuals with HNPCC are at increased risk for several types of cancer, including:

• Colorectal cancer (CRC)
• Endometrial cancer
• Ovarian cancer
• Stomach cancer
• Small bowel cancer
• Urinary tract cancer
• Brain tumors

Prevalence and Risk

HNPCC is the most common form of hereditary colorectal cancer, accounting for 2-7% of all CRC cases. Approximately one in 500 individuals in the general population carries a pathogenic mutation that increases their risk of developing HNPCC-related cancers.

Differential Diagnosis

The differential diagnosis for HNPCC includes several forms of attenuated polyposis and recessive tumor syndromes associated with germline biallelic pathogenic mutations. It is essential to consider these conditions when diagnosing patients with suspected HNPCC.

Early Detection and Diagnosis

Typically, patients who have HNPCC are identified after the diagnosis of colon cancer at an early age, rather than through the diagnosis of a pancreatic mass or other extracolonic cancers associated with the syndrome.

References:

• [1] Attenuated familial adenomatous polyposis is considered in the differential diagnosis of hereditary colorectal cancer.
• [2-7] HNPCC is characterized by an increased risk for various types of cancer, including CRC, endometrial, ovarian, stomach, small bowel, urinary tract, and brain tumors.
• [8] Lynch syndrome is also known as hereditary nonpolyposis colorectal cancer (HNPCC).
• [9] Hereditary CRC is most commonly inherited in an autosomal dominant pattern.
• [10] The term differential is used to refer to an infinitesimal change in some varying quantity, which is relevant to the consideration of various conditions in the diagnosis of HNPCC.