A Case of Breast Cancer and Chronic Pain
Your Clinical History
The patient is a 50-year-old woman experiencing persistent abdominal pain. She has a significant family history of breast cancer, which raises concern about inherited cancer risks. The patient underwent genomic sequencing to help clarify the reasons for her symptoms and to better understand her inherited health risks. DNA sequencing discovered several genes carrying deleterious mutations: ITPR2, AMPD1, GPR139, TYRP1, TOR1B, NPR2, SCN9A, BRCA2. This report explores the clinical significance of these findings, provides the most likely diagnoses and important follow up laboratory tests that could help to further narrow down the diagnosis as well as specialist referrals. The reports ends with recommendations for nutritional and life style interventions or modifications.
Understanding the Clinical Genomics Report
This personalized genomic report is designed to help the patient and her healthcare providers better understand her health risks and make informed medical decisions. Below is a clear breakdown explaining the contents of the genetic analysis and what steps to take next.
What Your Report Shows
DNA sequencing identified genetic changes (variants or mutations) in several genes. These changes can affect your health in various ways. The most significant finding is a pathogenic variant in the BRCA2 gene, strongly associated with hereditary breast and ovarian cancer syndrome, as well as certain other cancers. This gene is in the American College of Medical Genetics (ACMG) actionable gene list.
Other gene changes (ITPR2, AMPD1, GPR139, TYRP1, TOR1B, NPR2, SCN9A) were also identified. These may influence other aspects of the your health, such as pain sensitivity, muscle fatigue, or metabolic conditions, but their impact on current symptoms is less clear.
Your Genes and Their Clinical Meaning
Here is a simple summary of what each gene mutation could mean for you:
BRCA2 (Pathogenic):
- Strongly linked to breast and ovarian cancers.
- Also associated with increased risk for pancreatic cancer and other malignancies.
- Significantly increases importance of regular cancer screenings and preventive care.
ITPR2 (Likely pathogenic):
- Potentially linked to gastrointestinal symptoms and inflammation, possibly contributing to conditions like inflammatory bowel disease.
AMPD1 (Likely pathogenic):
- May cause muscle fatigue, cramps, and exercise-related pain. Not linked to cancer.
SCN9A (Uncertain significance):
- Possibly linked to altered pain sensitivity or chronic pain disorders. Not linked to cancer directly.
Other genes (GPR139, TYRP1, TOR1B, NPR2) currently have uncertain significance. While they have been associated with certain health conditions in the general population, their clinical impact on your symptoms is not clearly established.
What This Means for You
Given your family history of breast cancer, your abdominal pain, and the significant BRCA2 mutation identified, you are at increased risk for developing certain cancers, especially ovarian, breast, pancreatic, or peritoneal cancer. This risk needs immediate attention from specialized healthcare providers.
Recommended Medical Tests and Follow-up
Based on your genetics and symptoms, the following actions are recommended:
| Potential Diagnosis | Related Gene | Recommended Tests | Recommended Specialists |
|---|---|---|---|
| Hereditary Breast/Ovarian Cancer Syndrome (especially ovarian or peritoneal cancer) | BRCA2 | Pelvic ultrasound, transvaginal ultrasound, CA-125 blood test, abdominal/pelvic CT or MRI, complete blood count (CBC), liver function tests (LFTs) | Gynecologic oncologist, genetic counselor, surgical oncologist |
| Pancreatic Cancer | BRCA2 | Abdominal CT/MRI, CA 19-9 blood test, LFTs | Gastroenterologist, oncologist |
| Inflammatory Bowel Disease (possible) | ITPR2 | Colonoscopy, fecal calprotectin test, C-reactive protein (CRP) blood test | Gastroenterologist |
| Muscle Fatigue Disorder (possible) | AMPD1 | Serum creatine kinase (CK), lactate, ammonia levels after exercise testing | Neurologist, physical medicine specialist |
| Chronic Pain Disorder (possible) | SCN9A | Clinical pain evaluation, nerve conduction studies | Neurologist, pain management specialist |
Lifestyle and Dietary Recommendations
To proactively manage your genetic risks, these lifestyle choices are advised:
- Maintain a healthy body weight.
- Engage in regular physical exercise.
- Follow a balanced Mediterranean diet rich in fruits, vegetables, healthy fats, and whole grains.
- Avoid tobacco and limit alcohol consumption.
- Adhere strictly to recommended cancer screening protocols.
Medication Considerations
- Your BRCA2 mutation indicates potential responsiveness to specific treatments (such as platinum-based chemotherapy or PARP inhibitors) if cancer is ever diagnosed.
- Your SCN9A variant suggests caution with certain anesthetics and pain medications.
Always discuss these genetic findings with your healthcare providers before starting new medications or undergoing procedures.
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DISCLAIMER
MoodNote and MyGenePortal.com are not healthcare providers. The content on MyGenePortal.com is intended only for educational and informational purposes and should not be used to diagnose, treat, or prevent any medical, psychological, or psychiatric condition.
The DNA‐variant interpretations presented here are not a substitute for professional medical advice. Only a licensed healthcare provider, after a direct and comprehensive clinical evaluation, can make medical diagnoses or recommend appropriate care.
If you have any health concerns, please consult a qualified healthcare professional licensed in your jurisdiction. In case of a medical emergency or if you are experiencing suicidal thoughts, dial 911 (in the U.S. or Canada) or go to your nearest emergency department immediately.
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