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Amanda’s Rare Genetic Condition, Li-Fraumeni Syndrome, Led to Breast Cancer and Osteosarcoma Back to Back
Amanda R., Breast Cancer (Ductal Carcinoma In Situ or DCIS) and Osteosarcoma, TP53 (Li-Fraumeni Syndrome) Symptoms: breast cancer: breast lump, nipple discharge, nipple sore and chafing; osteosarcoma: jaw pain, swollen cheek Treatments: breast cancer: surgery (double mastectomy), chemotherapy; osteosarcoma: chemotherapy, surgery (maxillectomy: jaw surgery with skin graft and prosthetic plate)
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“It’s Just Constipation” Turned Out to Be Stage 2 Small Bowel Cancer
John R., Small Bowel Cancer, Stage 2 (High-Risk), SMAD4 Mutation Symptoms: Severe abdominal pain, especially after eating, vomiting, significant weight loss (about 40 pounds), inability to tolerate solid food, requiring a liquid-only diet Treatments: Surgeries (small bowel resection, lymphadenectomy), chemotherapy (CAPOX)
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Having ROS1 Mutation: Ashley’s Non-Small Cell Lung Cancer Story
Ashley H., Non-Small Cell Lung Cancer, ROS1+, Stage 1 Symptom: No lung cancer-specific symptoms; sudden appearance of lump on chest wall Treatment: Surgery (lobectomy)
