Condition Lookup

Hereditary breast and ovarian cancer syndrome (BRCA1/BRCA2 mutations)

Specialty: Genetics

Sub-category: Hereditary Cancer Syndromes

Symptoms:
increased risk of breast cancer; increased risk of ovarian cancer; early-onset cancers; male breast cancer; pancreatic cancer; prostate cancer

Root Cause:
Mutations in the BRCA1 or BRCA2 genes, which impair DNA repair mechanisms, lead to genomic instability and increased cancer susceptibility.

How it's Diagnosed: videos
Genetic testing for BRCA1/BRCA2 mutations; family history analysis; screening through mammography, MRI, or pelvic ultrasound.

Treatment:
Prophylactic surgery (mastectomy or salpingo-oophorectomy), targeted therapies (e.g., PARP inhibitors), enhanced screening protocols, and lifestyle modifications.

Medications:
PARP inhibitors such as olaparib and rucaparib (classified as targeted therapies) may be prescribed to treat cancers associated with BRCA mutations.

Prevalence: How common the health condition is within a specific population.
About 1 in 400 individuals in the general population carry BRCA mutations; prevalence increases significantly in certain ethnic groups (e.g., Ashkenazi Jewish descent).

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of BRCA-related cancers, Ashkenazi Jewish ancestry, previous diagnosis of breast or ovarian cancer.

Prognosis: The expected outcome or course of the condition over time.
Proactive management improves outcomes; early detection and preventive measures significantly reduce mortality risk.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Increased lifetime risk of multiple cancers, potential emotional and psychological impacts of diagnosis, complications from prophylactic surgeries.

Lynch syndrome (mismatch repair gene mutations

Specialty: Genetics

Category: Cancer Genetics

Sub-category: Hereditary Cancer Syndromes

Symptoms:
increased risk of colorectal cancer; endometrial cancer; ovarian cancer; stomach cancer; urinary tract cancer; sebaceous adenomas

Root Cause:
Mutations in mismatch repair (MMR) genes lead to microsatellite instability, increasing cancer susceptibility.

How it's Diagnosed: videos
Genetic testing for MMR gene mutations, MSI (microsatellite instability) testing, immunohistochemistry (IHC) for MMR protein expression.

Treatment:
Regular screening (colonoscopy, endometrial biopsy), prophylactic surgery, and immunotherapy (e.g., PD-1 inhibitors).

Medications:
PD-1 inhibitors like pembrolizumab or nivolumab (classified as immune checkpoint inhibitors) for advanced cancers.

Prevalence: How common the health condition is within a specific population.
Affects approximately 1 in 300 individuals globally.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of Lynch syndrome-associated cancers, early onset of related cancers.

Prognosis: The expected outcome or course of the condition over time.
Early and regular screenings improve outcomes; some cancers, if detected late, may require more aggressive treatment.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Increased lifetime risk of multiple cancers, complications from surgeries, and psychological distress.

Li-Fraumeni syndrome (TP53 gene mutation)

Specialty: Genetics

Category: Cancer Genetics

Sub-category: Hereditary Cancer Syndromes

Symptoms:
early-onset cancers; sarcomas; breast cancer; brain tumors; adrenocortical carcinoma

Root Cause:
TP53 mutations disrupt tumor suppressor function, allowing unregulated cell growth and division.

How it's Diagnosed: videos
Genetic testing for TP53 mutations, family history analysis, whole-body MRI for cancer screening.

Treatment:
Intensive cancer screening, targeted therapies depending on cancer type, prophylactic mastectomy for breast cancer risk.

Medications:
Chemotherapeutic agents specific to cancer type; targeted therapies for certain tumors.

Prevalence: How common the health condition is within a specific population.
Rare; estimated to affect 1 in 5,000–20,000 individuals.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of Li-Fraumeni syndrome or associated cancers.

Prognosis: The expected outcome or course of the condition over time.
Variable depending on early detection and management; high lifetime cancer risk.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Multiple primary cancers, psychological impact, complications from aggressive treatment protocols.

Familial adenomatous polyposis (APC gene mutation)

Specialty: Genetics

Category: Cancer Genetics

Sub-category: Hereditary Cancer Syndromes

Symptoms:
hundreds to thousands of colorectal polyps; blood in stool; abdominal pain; early-onset colorectal cancer

Root Cause:
APC gene mutations cause unregulated cell growth in the colon and rectum, leading to polyp formation.

How it's Diagnosed: videos
Genetic testing for APC mutations, colonoscopy to identify and biopsy polyps.

Treatment:
Prophylactic colectomy, regular colonoscopy, and chemoprevention with NSAIDs.

Medications:
NSAIDs like sulindac or celecoxib (classified as COX-2 inhibitors) may reduce polyp burden.

Prevalence: How common the health condition is within a specific population.
Affects 1 in 7,000–22,000 individuals.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of FAP or APC mutation.

Prognosis: The expected outcome or course of the condition over time.
Excellent with early detection and management; untreated, nearly 100% risk of colorectal cancer by age 40.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Colorectal cancer, duodenal cancer, desmoid tumors, complications from surgery.

Multiple endocrine neoplasia (MEN1, RET gene mutations)

Specialty: Genetics

Category: Cancer Genetics

Sub-category: Hereditary Cancer Syndromes

Symptoms:
parathyroid tumors; pituitary tumors; pancreatic neuroendocrine tumors; medullary thyroid carcinoma; pheochromocytomas

Root Cause:
MEN1 or RET mutations lead to unregulated endocrine gland growth and tumor development.

How it's Diagnosed: videos
Genetic testing for MEN1 or RET mutations, biochemical testing (hormone levels), imaging (MRI, CT scans).

Treatment:
Surgical removal of tumors, targeted therapies, and hormone regulation treatments.

Medications:
Somatostatin analogs like octreotide (classified as hormonal agents) for neuroendocrine tumors.

Prevalence: How common the health condition is within a specific population.
MEN1 affects approximately 1 in 30,000 individuals; RET mutations vary with subtype.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of MEN syndromes.

Prognosis: The expected outcome or course of the condition over time.
Varies depending on tumor type and early intervention; regular monitoring is crucial.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Metastatic cancers, hormonal imbalances, complications from surgeries.

Retinoblastoma (RB1 gene mutation)

Specialty: Genetics

Category: Cancer Genetics

Sub-category: Other Cancer Predispositions

Symptoms:
white pupillary reflex (leukocoria); strabismus (crossed eyes); poor vision; eye redness or swelling; proptosis (bulging eye in advanced stages)

Root Cause:
Mutations in the RB1 tumor suppressor gene lead to uncontrolled cell growth in the retina.

How it's Diagnosed: videos
Comprehensive eye examination, imaging studies (ultrasound, MRI, or CT of the eye), genetic testing to confirm RB1 mutation, and biopsy in rare cases.

Treatment:
Enucleation (surgical removal of the eye) in advanced cases, focal therapies (laser therapy, cryotherapy), chemotherapy (systemic, intra-arterial, or intravitreal), and radiation therapy.

Medications:
Chemotherapeutic agents such as carboplatin (platinum-based chemotherapy), vincristine (microtubule inhibitor), and etoposide (topoisomerase inhibitor) are commonly used to treat retinoblastoma.

Prevalence: How common the health condition is within a specific population.
Affects approximately 1 in 15,000–20,000 live births globally; most common in children under 5 years old.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of RB1 mutation, parental germline mutations, and advanced paternal age (associated with sporadic cases).

Prognosis: The expected outcome or course of the condition over time.
Excellent if diagnosed early; survival rates exceed 95% in developed countries. Prognosis decreases if metastatic disease is present.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Spread to the brain and bone marrow, vision loss, and secondary cancers in survivors with germline RB1 mutations.

Von Hippel-Lindau disease (VHL gene mutation)

Specialty: Genetics

Category: Cancer Genetics

Sub-category: Other Cancer Predispositions

Symptoms:
hemangioblastomas (brain, spinal cord, retina); pheochromocytomas (adrenal tumors); renal cell carcinoma; cysts in kidneys, pancreas, or other organs; hearing loss (endolymphatic sac tumors); headaches; hypertension

Root Cause:
Mutations in the VHL tumor suppressor gene impair protein regulation, leading to abnormal cell growth and angiogenesis.

How it's Diagnosed: videos
Clinical evaluation, imaging (MRI, CT), genetic testing to confirm VHL mutation, and family history assessment.

Treatment:
Regular surveillance for tumor detection, surgical removal of tumors (hemangioblastomas, renal cell carcinoma), and targeted therapies (VEGF inhibitors) for advanced cases.

Medications:
Sunitinib and pazopanib , both VEGF inhibitors, are used for managing advanced renal cell carcinoma. Cabozantinib may also be considered.

Prevalence: How common the health condition is within a specific population.
Occurs in approximately 1 in 36,000–45,000 individuals; inherited in an autosomal dominant pattern.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of VHL, inheriting a single pathogenic VHL gene mutation.

Prognosis: The expected outcome or course of the condition over time.
Early detection and management can significantly improve outcomes. Regular screening helps prevent life-threatening complications.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Malignant transformation of renal tumors, neurological damage from hemangioblastomas, and hypertensive crises from pheochromocytomas.