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Papillary Renal Cell Carcinoma: What You Need To Know
Inheritance Pattern of HPRC
Hereditary Papillary Renal Carcinoma (HPRC) follows an autosomal dominant inheritance pattern. This means that if one parent carries the HPRC gene mutation, each child has a 50% chance of inheriting it. A person with this inherited mutation is at increased risk for developing kidney cancer.
The HPRC gene is located on chromosome 7. The specific gene involved in this condition is called MET proto-oncogene. Mutations in this gene lead to uncontrolled cell growth and division, resulting in the formation of tumors.
It's important to note that not everyone who inherits the mutated MET gene develops HPRC. But they are considered carriers and can still pass the mutated gene onto their children even if they never develop symptoms themselves. Genetic counseling plays a crucial role here, providing individuals and families with information about risks, benefits, and limitations associated with genetic testing for hereditary cancer syndromes like HPRC.
To sum up: HPRC genetics involve an autosomal dominant inheritance pattern from a parent carrying aMET gene mutation on chromosome 7. Not every carrier will develop kidney cancer but all have potential to pass it on.
Preimplantation Genetic Diagnosis (PGD)
Preimplantation Genetic Diagnosis (PGD) is a medical procedure. It's done before implanting an embryo in the uterus during In-Vitro Fertilization (IVF). Doctors examine embryos for genetic defects. The goal: avoid passing on certain genetic diseases to children.
It starts with IVF. Eggs are retrieved from a woman's ovaries, then fertilized in a lab. Embryos develop for 3-5 days. Then, doctors remove some cells from each embryo for testing.
These tests look at the genes or chromosomes of embryos. They can identify many different genetic conditions such as Down syndrome or cystic fibrosis. After testing, only healthy embryos get transferred to the womb.
Remember, PGD isn't perfect—it doesn't guarantee pregnancy or catch all diseases—but it helps reduce risks significantly.
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HPRC Associated Cancer Risks
Hereditary Papillary Renal Carcinoma (HPRC) is a genetic condition. It increases the risk of kidney cancer. HPRC leads to the development of multiple, bilateral papillary renal tumors.
The gene linked with HPRC is MET. Mutations in this gene cause increased risk. A clear understanding of how these mutations lead to cancer isn't present yet. But, research suggests it could be due to abnormal cell growth and division.
Symptoms associated with HPRC may not appear until later stages. These include blood in urine, back pain or weight loss. Early detection plays a significant role in managing this disease.
Regular monitoring is crucial for those at risk of developing HPRC-related cancers. This includes regular imaging tests like CT scans or MRIs as well as genetic testing for family members. It's important to talk with your healthcare provider about potential risks and screening options if you have a family history of HPRC or similar conditions.
Treatment for Kidney Cancer in HPRC Patients
HPRC stands for Hereditary Papillary Renal Carcinoma. It's a genetic disorder that causes kidney cancer. If you're an HPRC patient, your treatment options can vary.
Surgery is often the first line of defense. This could be partial or total removal of the kidney (nephrectomy). But it depends on tumor size and location.
Another option is targeted therapy. These are drugs like sunitinib or pazopanib which specifically attack cancer cells without harming normal cells. They work by blocking certain proteins in cancer cells to stop them from growing.
Then there's immunotherapy, a newer type of cancer treatment that boosts the body's natural defenses to fight off the disease. Examples include nivolumab and ipilimumab.
Lastly, you might consider joining a clinical trial if standard treatments aren't working for you. These trials test out new drugs or therapies before they're made widely available.
Remember, each case is unique so always consult with your medical team about what’s best for you.