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 |