Organ | Possible pathologies | Screening recommendation | Screening frequency |
---|---|---|---|
Thyroid | Adenoma, follicular and papillar thyroid carcinoma, goiter, autoimmune thyroid disease | Thyroid ultrasound (starting with diagnosis) | At least annual (in children < 7 years of age and without nodules: every 2–3 years) |
GIT | Hamartomatous polyps, esophageal acanthosis, carcinoma | Gastro-/colonoscopy in patients without symptoms: individual decision in childhood Gastro-/colonoscopy in patients with symptoms (e.g., hematochesis, severe constipation, diarrhea, recurrent and severe abdominal pain): diagnostic should be planned promptly. Regular gastro-/colonoscopy starting at age 35. | Depending on diagnostic findings and symptoms Depending on diagnostic findings and symptoms Every 5 years |
Female breast | Benign and malignant tumors of the breast | Breast awareness beginning at 18 years of age Clinical breast examination beginning at 25 years of age (or 5–10 years before youngest age of cancer diagnosis in family) Breast MRI and mammography at age 30–35 in women (or 5–10 years before youngest age of cancer diagnosis in family) | Every month 1–2 times/year Annual |
Skin | Benign and malignant tumors | Dermatological exam | Annual |
Urogenital system | Renal carcinoma (in adults) Testicular lipomatosis/ endometrial cancer (in adults) | Abdominal ultrasound starting with diagnosis Ultrasound of testes/uterus and ovaries beginning at 10 years of age | Annual Every 1–2 years |
CNS | Developmental delay, white matter abnormality, enlarged perivascular spaces, autism spectrum disorder, cerebellar dysplastic gangliocytoma in adults, meningioma (rare cases) | Psychomotor assessment cMRI in the presence of neurological signs and symptoms | Depending on imaging/neurological phenotype |