Familial and Inherited Neoplasm Syndromes
Here is a list of about 230 conditions, that fall into one of three categories:
1. Familial cancer and neoplastic syndromes (i.e., affected individuals have an inherited predisposition to a particular set of neoplasms).
2. Mutations in the germ line (i.e., in every cell of the body), that predispose to neoplasia.
3. Inherited diseases or diseases with a heritable component that predispose to neoplasia.
The list is not limited to cancers, and includes benign tumors and hamartomas. The list is described in my book,
Neoplasms: Principles of Development and Diversity.
Each syndrome is linked to its entry in the OMIM (Online Mendelian Inheritance in Man) database.
Acoustic schwannomas bilateral
Adamantinoma of long bones
Severe combined immunodeficiency due to a deficiency
Albright hereditary osteodystrophy
Anemia with multinucleated erythroblasts erythroreticulosis hereditary benign included
Angioma hereditary neurocutaneous spinal arterial venous malformations with cutaneous hemangiomas included
Aniridia
Ankylosing vertebral hyperostosis with tylosis diffuse idiopathic skeletal hyperostosis included
Gastroesophageal reflux pediatric adenocarcinoma of esophagus included
Basal cell carcinomas with milia and coarse sparse hair
Basal cell nevus syndrome
Blue rubber bleb nevus
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
BRCA1 breast cancer
Burkitt lymphoma
Cafe-au-lait spots multiple
Lynch cancer family syndrome II
Carotid body tumors and multiple extraadrenal pheochromocytomas
Cerebral capillary malformations cerebral cavernous malformations 1 included
Sotos syndrome
Chemodectoma intraabdominal with cutaneous angiolipomas
Choroidal osteoma bilateral
Colorectal cancer hereditary nonpolyposis type 1
Debrisoquine 4-hydroxylase codeine ultrarapid metabolism of included
DNA damage-inducible transcript 3 (gadd153 myxoid liposarcoma and chop/fus fusion gene included)
Wiedemann-Beckwith syndrome
Multiple endocrine neoplasia type I
Myeloproliferative disorder chronic with eosinophilia
Ependymoma familial
Pilomatrixoma
Cylindromatosis familial
Diphenylhydantoin defect lymphoproliferative disorders susceptibility to included
Polycythemia familial
Erythroleukemia familial
Ewes gene neuroepithelioma peripheral included
Xeroderma pigmentosum complementation group B
Exostoses multiple type I
Birt-Hogg-Dubé syndrome fibrofolliculomas with trichodiscomas and acrochordons
Fibromatosis gingival hereditary
Genitourinary dysplasia component of wagr syndrome
Genochondromatosis
Giant pigmented hairy nevus
Gigantiform cementoma familial
Glioma of brain familial glioblastoma multiforme included
Goiter nontoxic with intrathyroidal calcification
Hemangioma-thrombocytopenia syndrome Kasabach-Merritt syndrome
Homeobox d4 hoxd4 acute lymphoblastic susceptibility to included
Renal carcinoma familial associated 1 included
Pallister-hall syndrome hypothalamic hamartoblastoma hypopituitarism imperforate anus and postaxial polydactyly
Kaposi sarcoma
Tylosis with esophageal cancer
Klippel-Trenaunay-weber syndrome angioosteohypertrophy syndrome
Leiomyoma uterine
Leiomyoma hereditary multiple of skin
Li-Fraumeni syndrome 1
Bannayan-zonana syndrome macrocephaly pseudopapilledema and multiple hemangiomata Bannayan-Riley-Ruvalcaba syndrome included
5q syndrome macrocytic anemia refractory due to 5q deletion
Thyroid carcinoma familial medullary
Dysplastic nevus syndrome hereditary b-k mole syndrome
Muir-Torre syndrome cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas
Cowden syndrome multiple hamartoma syndrome Lhermitte-Duclos disease included
Myelocerebellar disorder
Myeloid/lymphoid or mixed lineage leukemia trithorax Drosophila homolog of mll/fbp17 fusion gene included
Carney myxoma-endocrine complex carney syndrome
Nasopharyngeal carcinoma
Neurilemmomatosis congenital cutaneous
Neurofibromatosis type I
Nf3b
Neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome
Neuromata mucosal with endocrine tumors
Nevi flammei familial multiple
Linear sebaceous nevus syndrome
Odontoma-dysphagia syndrome
Osteochondromatosis
Ovarian teratoma
Paragangliomas familial 1
Pelvic lipomatosis with crossed renal ectopia
Multiple endocrine neoplasia type ii pheochromocytoma and amyloid-producing medullary thyroid carcinoma
Pheochromocytoma—islet cell tumor syndrome
Albright syndrome polyostotic fibrous dysplasia
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Adenomatous polyposis of the colon apc
Peutz-Jeghers syndrome
Sacral agenesis hereditary with presacral mass anterior meningocele and/or teratoma and anorectal malformation included
Retinoblastoma
Rhabdomyosarcoma embryonal 2
Steatocystoma multiplex
Syringomas multiple
Telangiectasia hereditary hemorrhagic of Rendu Osler and weber
Thyroid carcinoma follicular
Familial nonmedullary thyroid cancer
Trichoepitheliomas multiple desmoplastic
Leukemia megakaryoblastic of down syndrome
Tuberous sclerosis
Von Hippel-Lindau syndrome
Wilms tumor 1
Denys-Drash syndrome nephropathy Wilms tumor and genital anomalies
Xeroderma pigmentosum autosomal dominant mild
Adrenal hyperplasia congenital due to 21-hydroxylase deficiency
Angiolipomatosis familial
Ataxia-telangiectasia
Bloom syndrome
Lung cancer alveolar cell carcinoma included
Fanconi anemia
Fibromatosis congenital generalized
Hemochromatosis neonatal
Hemochromatosis
Histiocytosis x acute disseminated
Leukemia acute myelocytic with polyposis coli and colon cancer
Myelofibrosis familial
Myeloproliferative disease autosomal recessive
Neuroblastoma
Osteogenic sarcoma
Osteoid osteoma
Choroid plexus papilloma
Polycythemia vera
Nephroblastomatosis fetal ascites macrosomia and Wilms tumor
Hemophagocytic reticulosis familial
Teratoma pineal
Testicular tumors teratoma testicular included
Turcot syndrome malignant tumors of the central nervous system associated with familial polyposis of the colon
Xeroderma pigmentosum I
Prostate cancer hereditary x-linked
Follicular atrophoderma and basal cell carcinomas
Epidermodysplasia verruciformis x-linked
Lymphoproliferative disease x-linked
Incontinentia pigmenti familial male-lethal type
Leiomyomatosis esophageal and vulval with nephropathy
Sarcoma synovial x-chromosome–related 1
Dysplasia gigantism syndrome x-linked
Breast cancer 11-22 translocation associated
Myelocytic leukemia-like syndrome
Subependymoma
BRCA2 breast cancer type 2 included
Venous malformations multiple cutaneous and mucosal
Mismatch repair gene pmsl1 colorectal cancer hereditary nonpolyposis type 3 included
Osler-Rendu-weber syndrome 2
Chondrosarcoma myxoid extraskeletal fused to ews
Gtbp colorectal cancer hereditary nonpolyposis type 5 included
Neuronal intestinal dysplasia type B
Polyposis syndrome mixed hereditary
Noonan-neurofibromatosis syndrome
Myelodysplasia immunodeficiency facial dysmorphism short stature and psychomotor delay
Sebaceous nevus syndrome and hemimegalencephaly
Familial Wilms tumor 1
Platelet disorder familial with associated myeloid malignancy
Prostate cancer hereditary 1
Wilms tumor 5
Trichoepithelioma multiple familial
Glomus tumors familial 2
Canale-Smith syndrome (autoimmune lymphoproliferative syndrome)
Hemangioma capillary infantile
Pancreatic lymphoma familial
Thyroid carcinoma with thyrotoxicosis included
Reticuloendotheliosis familial with eosinophilia
Neuroendocrine carcinoma of salivary glands sensorineural hearing loss and enamel hypoplasia
Exostosis Dupuytren subungual
Eccrine syringofibroadenomatosis with eyelid abnormalities
Blue nevi familial multiple
Prostate cancer/brain cancer susceptibility
Ovarian germ cell cancer
Papillary thyroid microcarcinoma
Carney triad
Gastric leiomyosarcoma pulmonary chondroma and extraadrenal paraganglioma
Epithelial ovarian cancer
Checkpoint kinase 2 s. pombe homolog of breast and colorectal cancer susceptibility to included
Nonpapillary renal carcinoma 1
Basal cell carcinoma with follicular differentiation
Langerhans cell histiocytosis
Becker nevus syndrome
Lymphoma non-Hodgkin familial
Spiegler-Brooke syndrome
Renal cell carcinoma papillary
Renal cell carcinoma papillary 3
Autoimmune lymphoproliferative disease without fas mutations
Carney myxoma-endocrine complex type II
Primordial germ cell tumor susceptibility locus 1
Breast cancer 3 brca3
Paragangliomas 3
Glomus tumors familial 3
Basal cell carcinoma multiple
Thyroid carcinoma papillary with papillary renal neoplasia
Basaloid follicular hamartoma syndrome generalized autosomal dominant
Leiomyomatosis and renal cell cancer hereditary
Familial Wilms tumor 2
Aneurysmal bone cysts
Thyroid carcinoma nonmedullary 1
Persistent polyclonal B-cell lymphocytosis
Phace (posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities) association
Melanoma uveal susceptibility to 1
Lymphangioleiomyomatosis
Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome
Gastrointestinal stromal tumor gist
Paraganglioma and gastric stromal sarcoma
Hemangioma intraosseous
Meningioma familial meningioma caused by somatic mutation included
Glioma familial 1
Osteofibrous dysplasia
Thyroid carcinoma Hürthle cell
Juvenile myelomonocytic leukemia
Tufted angioma
Ovarian cancer epithelial susceptibility to
Dermatofibrosarcoma protuberans
Melanoma cutaneous malignant 4
Parathyroid carcinoma
Capillary malformation-arteriovenous malformation
Colorectal adenomatous polyposis autosomal recessive
Oligodontia-colorectal cancer syndrome
Neuroectodermal tumors supratentorial primitive with cafe-au-lait spots
Prostate cancer hereditary 20
Prostate cancer hereditary 7
Colorectal cancer susceptibility to on chromosome 9
Carney complex variant
Lung cancer 1
Melanoma cutaneous malignant 3
Prostate cancer hereditary 3
Colorectal cancer hereditary nonpolyposis type 2
Rhabdoid tumor
Colloid cysts of third ventricle
Last modified: January 26, 2010, by Jules J. Berman, Ph.D., M.D.