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hereditary neoplastic syndrome; cancer susceptibility syndrome
Management:
- genetic counseling
- aggressive screening for cancer
Specific
ataxia telangiectasia; Louis-Bar syndrome
Bannayan-Zonana syndrome, Ruvalcaba-Riley-Smith syndrome; Ruvalcaba-Myhre-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome
Carney complex
Carney triad
de Sanctis-Cacchione syndrome (xerodermic idiocy)
Denys-Drash syndrome
dysplastic nevus syndrome (inherited familial atypical mole & melanoma syndrome)
familial breast-ovarian cancer
familial cylindromatosis; Ancell-Spiegler cylindromas; dermal eccrine cylindromatosis; turban tumor syndrome
familial lipoma syndrome
familial medullary thyroid carcinoma
familial nonchromaffin paraganglioma
Fanconi anemia
Frasier syndrome
hereditary colon cancer syndrome
intestinal polyposis syndrome
Li-Fraumeni syndrome
lymphangioleiomyomatosis
melanoma-astrocytoma syndrome
multiple endocrine neoplasia (MEN)
multiple familial trichoepithelioma type 1; epithelioma adenoides cysticum of Brooke; hereditary multiple benign cystic epithelioma; Brooke-Fordyce trichoepitheliomas
multiple mucosal neuromas syndrome
neurofibromatosis (von Recklinghausen's disease)
nevoid basal cell carcinoma syndrome; basal cell nevus syndrome; Gorlin-Goltz syndrome
phakomatosis (phacomatosis)
Reed syndrome
schwannomatosis (congenital cutaneous neurilemmomatosis)
Spiegler-Brooke syndrome
tuberous sclerosis (Bourneville disease, epiloia)
von Hippel-Lindau disease
WAGR syndrome; Wilms tumor-aniridia-genitourinary anomalies-mental retardation
xeroderma pigmentosum
General
genetic syndrome (multisystem disorder)
neoplasm; tumor
References
- Medical Knowledge Self Assessment Program (MKSAP) 15, 16, 18.
American College of Physicians, Philadelphia 2009, 2012, 2018.
- Lindor NM, McMaster ML, Lindor CJ et al
Concise handbook of familial cancer susceptibility syndromes -
second edition.
J Natl Cancer Inst Monogr. 2008;(38):1-93
PMID: 18559331
- ARUP Consult: Hereditary Cancer Panel
https://arupconsult.com/ati/hereditary-cancer-panel