hereditary nonpolyposis colorectal cancer type 7

Hereditary nonpolyposis colorectal cancer type 7 (HNPCC7) is a rare form of hereditary nonpolyposis colon cancer characterized by a predisposition to a wide variety of cancers [7]. It is caused by a mutation in the MLH3 gene, which is located on chromosome 14q24.3 [7].

Key Features:

• Autosomal dominant inheritance pattern
• Increased risk of colorectal cancer and other types of cancer
• Rare form of hereditary nonpolyposis colon cancer

Citations: [7] - Hereditary nonpolyposis colorectal cancer-7 (HNPCC7) is caused by mutation in the MLH3 gene (604395) on chromosome 14q24.3. [5] - Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene.

Note: HNPCC7 is a rare and specific type of hereditary nonpolyposis colorectal cancer, and more research is needed to fully understand its characteristics and implications.

Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is a genetic condition that increases the risk of developing various types of cancers, including colorectal, endometrial, ovarian, and others.

Common signs and symptoms:

• Abdominal pain
• Iron deficiency
• Signs of colonic obstruction or bleeding

These symptoms can be indicative of HNPCC, but it's essential to note that many people with this condition may not experience any noticeable symptoms until the cancer has progressed.

Increased risk of cancers:

• Colorectal cancer: People with Lynch syndrome have a significantly higher risk of developing colorectal cancer, often at an earlier age than the general population.
• Endometrial cancer: Women with HNPCC are at increased risk of developing endometrial cancer, which can manifest as abnormal vaginal bleeding.

Early detection and prevention:

While there is no cure for HNPCC, early detection and regular screening can help identify cancers at an earlier stage, improving treatment outcomes. Individuals with a family history of Lynch syndrome should discuss their risk factors with a healthcare provider to determine the best course of action for cancer screening and prevention.

References: * [2] - Lynch syndrome is a genetic condition that leads to several types of cancers, especially early colorectal cancer. * [4] - A rare form of hereditary nonpolyposis colon cancer (HNPCC) characterized by ... colon; symptoms include abdominal pain, iron deficiency or signs of colonic ... * [7] - Lynch syndrome significantly increases your chance of developing colon cancer, and often earlier than the general population – before the age of 45. * [8] - The most common symptom of endometrial cancer is abnormal vaginal bleeding. In HNPCC, the mean age of diagnosis of gastric cancer is 56 years of age with ...

Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, can be diagnosed through various diagnostic tests.

• Immunohistochemistry: This test is used to detect the presence or absence of certain proteins in tumor cells. A positive result indicates a malfunction in the genes connected to Lynch syndrome [7].
• Molecular analysis: This test involves examining the genetic material of tumor cells for mutations that are associated with HNPCC. Formal sequencing of MLH1 or MSH2 will provide genetic confirmation of HNPCC [6].
• Microsatellite instability testing (MSI): MSI is a test used to detect changes in DNA sequences that can indicate Lynch syndrome. A positive result suggests the presence of Lynch syndrome [3].
• Targeted variant analysis: This test involves analyzing specific genes, such as MLH1 or MSH2, for mutations associated with HNPCC.
• Germline testing: This test is used to detect inherited genetic mutations that can increase the risk of developing Lynch syndrome.

These diagnostic tests are typically performed on tumor tissue and/or blood samples. A combination of these tests may be necessary to

Treatment Options for Hereditary Nonpolyposis Colorectal Cancer (HNPCC)

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 cure for HNPCC, several treatment options are available to manage and prevent the development of cancer.

Chemotherapy

Chemotherapy has been shown to be effective in treating colorectal cancer associated with HNPCC. The addition of oxaliplatin to 5-fluorouracil (5-FU) and leucovorin (LV) has been demonstrated to improve overall survival compared to 5-FU/LV alone [5]. However, the effectiveness of chemotherapy in patients with MSI-H or HNPCC tumors is limited, with most studies showing no significant benefit [3].

Aspirin Therapy

Aspirin has been studied as a potential chemopreventive agent for HNPCC. Research suggests that aspirin may function by increasing mismatch repair (MMR) protein production in MMR-deficient cells, which could help prevent cancer development [2]. However, more research is needed to confirm the effectiveness of aspirin therapy in preventing colorectal cancer in individuals with HNPCC.

Surgery

Surgical options are available for patients with HNPCC who develop colorectal cancer. Subtotal colectomy with ileorectal anastomosis and postsurgical rectal surveillance are recommended when colorectal cancer develops in patients with HNPCC [1]. Prophylactic colectomy is not considered a standard or necessary intervention for primary colorectal cancer risk reduction in individuals with Lynch syndrome, however [4].

Other Treatment Options

In addition to chemotherapy, surgery, and aspirin therapy, other treatment options may be available on a case-by-case basis. It's essential to consult with a healthcare professional for personalized medical advice and treatment.

References:

[1] Jan 20, 2020 — Subtotal colectomy with ileorectal anastomosis and postsurgical rectal surveillance are recommended when colorectal cancer develops in patients with HNPCC. [2] by RB Baucom · 2012 · Cited by 19 — Aspirin has been the best-studied drug in the setting of HNPCC. Aspirin is thought to function by increasing MMR protein production in MMR-deficient cells based ... [3] by HFA Vasen · 2007 · Cited by 773 — The effect of chemotherapy in patients with MSI‐H or HNPCC tumours has been reported in only a few studies (table 8).,,,, Most studies showed that there was no ... [4] by MB Yurgelun · Cited by 136 — Prophylactic colectomy is not considered a standard or necessary intervention for primary colorectal cancer risk reduction in individuals with Lynch syndrome, ... [5] Sep 6, 2024 — The addition of oxaliplatin to 5-FU/LV has been shown to improve OS compared with 5-FU/LV alone. For more information, see the Treatment of ...

Differential Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Type 7

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, endometrial, ovarian, and others. In some cases, HNPCC can be confused with other conditions that have similar symptoms or characteristics.

Differential Diagnosis

The differential diagnosis for HNPCC Type 7 includes several forms of attenuated polyposis, which are characterized by the presence of multiple polyps in the colon. These conditions include:

• Muir-Torre syndrome: a rare form of HNPCC that is associated with sebaceous skin tumors.
• Turcot syndrome: a condition that combines HNPCC with primary brain tumors.

Key Features

The differential diagnosis for HNPCC Type 7 can be distinguished from other forms of attenuated polyposis by the following key features:

• Family history: a strong family history of HNPCC-associated cancers, involving first-degree relatives and at least two generations.
• Age of onset: early age of onset, typically before the age of 50.

References

• [7] Variations of HNPCC include Muir-Torre syndrome, which is associated with sebaceous skin tumors, and Turcot syndrome, which is associated with primary brain tumors.