Table 2 Malignancy Screening Recommendations by Gene
From: Clinical challenges in interpreting multiple pathogenic mutations in single patients
Associated Neoplasms | Agea | Recommendation | |
|---|---|---|---|
BAP1 | Uveal melanoma | 11 | Annual dilated eye exams by an ocular specialist |
Mesothelioma | – | Annual physical +/− Chest MRI | |
Cutaneous melanoma, BCC, AST | 20 | Annual or biannual full body skin exam | |
Clear cell renal cell carcinoma | – | Annual physical Annual abdominal ultrasound Annual urinalysis Abdominal MRI every 2 years | |
MSH6 | Colon cancer | 25 | Colonoscopy every 1–2 years |
Endometrial cancer | Prophylactic hysterectomy | ||
Ovarian cancer | 30 | Prophylactic bilateral salpingo-oophorectomy Prior to prophylactic removal, consider: Annual transvaginal ultrasound Annual CA-125 | |
Urothelial cancer | 30 | Consider annual urinalysis | |
Gastrointestinal tract | 30 | Esophagogastroduodenoscopy every 3–5 years | |
Pancreatic cancer | – | Consider endoscopic ultrasound | |
CNS malignancy | Annual physical exam with neurologic examination | ||
RECQL4 (biallelic) (RTS, BGS, RAPADILINO Syndrome) | Osteosarcoma | Annual physical Prompt skeletal radiographic evaluation when suspected clinically | |
Lymphoma | Annual physical Baseline complete blood count with differential | ||
Keratinocyte carcinomas (RTS and BGS only) | Annual full body skin exam |