Tumor predisposition syndrome (TPDS) is conferring an increased risk of hereditary, early-onset cancers; predominantly uveal melanoma, malignant mesothelioma, renal cell carcinoma, and BAP1-inactivated melanocytic tumor (BIMT). Germline mutations in the BAP1 gene cause this syndrome. BAP1 is a ubiquitin carboxy-terminal hydrolase that regulates a number of processes including DNA damage repair, cell cycle control, chromatin modification, and the immune response. Recently, it has been reported that germline MBD4 deficiency also causes TPDS. MBD4 encodes a glycosylase involved in base-excision repair.
Category
Cancer
Brite
Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
Neoplasms of uncertain behaviour, except of lymphoid, haematopoietic, central nervous system or related tissues
2F7Y Neoplasms of uncertain behaviour of other specified site
H02624 Tumor predisposition syndrome
Pathway-based classification of diseases [BR:br08402]
Replication and repair
nt06510 Telomere length regulation
H02624 Tumor predisposition syndrome
nt06504 Base excision repair
H02624 Tumor predisposition syndrome
Cellular process
nt06523 Epigenetic regulation by Polycomb complexes
H02624 Tumor predisposition syndrome
Palles C, West HD, Chew E, Galavotti S, Flensburg C, Grolleman JE, Jansen EAM, Curley H, Chegwidden L, Arbe-Barnes EH, Lander N, Truscott R, Pagan J, Bajel A, Sherwood K, Martin L, Thomas H, Georgiou D, Fostira F, Goldberg Y, Adams DJ, van der Biezen SAM, Christie M, Clendenning M, Thomas LE, Deltas C, Dimovski AJ, Dymerska D, Lubinski J, Mahmood K, van der Post RS, Sanders M, Weitz J, Taylor JC, Turnbull C, Vreede L, van Wezel T, Whalley C, Arnedo-Pac C, Caravagna G, Cross W, Chubb D, Frangou A, Gruber AJ, Kinnersley B, Noyvert B, Church D, Graham T, Houlston R, Lopez-Bigas N, Sottoriva A, Wedge D, Jenkins MA, Kuiper RP, Roberts AW, Cheadle JP, Ligtenberg MJL, Hoogerbrugge N, Koelzer VH, Rivas AD, Winship IM, Ponte CR, Buchanan DD, Power DG, Green A, Tomlinson IPM, Sampson JR, Majewski IJ, de Voer RM
Title
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
Bell DW, Varley JM, Szydlo TE, Kang DH, Wahrer DC, Shannon KE, Lubratovich M, Verselis SJ, Isselbacher KJ, Fraumeni JF, Birch JM, Li FP, Garber JE, Haber DA
Title
Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome.
Pulmonary fibrosis and/or bone marrow failure, telomere-related (PFBMFT) is also known as human telomere biology disorders, or short telomere syndromes. PFBMFT is a group of hereditary disorders caused by inherited loss-of-function mutations in telomere associated genes. It has a wide phenotypic spectrum that include bone marrow failure, pulmonary and liver fibrosis, mucocutaneous fragility, and predisposition to myelodysplastic syndromes and cancer.
Category
Hematologic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
Anaemias or other erythrocyte disorders
3A70 Aplastic anaemia
H02569 Pulmonary fibrosis and/or bone marrow failure, telomere-related
Pathway-based classification of diseases [BR:br08402]
Replication and repair
nt06509 DNA replication
H02569 Pulmonary fibrosis and/or bone marrow failure, telomere-related
nt06510 Telomere length regulation
H02569 Pulmonary fibrosis and/or bone marrow failure, telomere-related
nt06502 Nucleotide excision repair
H02569 Pulmonary fibrosis and/or bone marrow failure, telomere-related
nt06506 Double-strand break repair
H02569 Pulmonary fibrosis and/or bone marrow failure, telomere-related
nt06508 Interstrand crosslink repair
H02569 Pulmonary fibrosis and/or bone marrow failure, telomere-related
Kelich J, Aramburu T, van der Vis JJ, Showe L, Kossenkov A, van der Smagt J, Massink M, Schoemaker A, Hennekam E, Veltkamp M, van Moorsel CHM, Skordalakes E
Title
Telomere dysfunction implicates POT1 in patients with idiopathic pulmonary fibrosis.
Kannengiesser C, Manali ED, Revy P, Callebaut I, Ba I, Borgel A, Oudin C, Haritou A, Kolilekas L, Malagari K, Borie R, Lainey E, Boileau C, Crestani B, Papiris SA
Title
First heterozygous NOP10 mutation in familial pulmonary fibrosis.
DISEASE: Cerebroretinal microangiopathy with calcifications and cysts
Entry
H02251 Disease
Name
Cerebroretinal microangiopathy with calcifications and cysts; Coats plus syndrome
Description
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome, is a rare and highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. The most characteristic features are retinal telangiectasia and exudates, and a distinctive pattern of intracranial calcification with an associated leukodystrophy and brain cysts. It has been reported that mutations CTC1 and STN1 cause CRMCC. Both of them are members of CST complex, that plays multiple roles in telomere C-strand synthesis.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
Disorders of the eyeball posterior segment
Disorders of the retina
9B78 Certain specified retinal disorders
H02251 Cerebroretinal microangiopathy with calcifications and cysts
Pathway-based classification of diseases [BR:br08402]
Replication and repair
nt06510 Telomere length regulation
H02251 Cerebroretinal microangiopathy with calcifications and cysts
Briggs TA, Abdel-Salam GM, Balicki M, Baxter P, Bertini E, Bishop N, Browne BH, Chitayat D, Chong WK, Eid MM, Halliday W, Hughes I, Klusmann-Koy A, Kurian M, Nischal KK, Rice GI, Stephenson JB, Surtees R, Talbot JF, Tehrani NN, Tolmie JL, Toomes C, van der Knaap MS, Crow YJ
Title
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).
Simon AJ, Lev A, Zhang Y, Weiss B, Rylova A, Eyal E, Kol N, Barel O, Cesarkas K, Soudack M, Greenberg-Kushnir N, Rhodes M, Wiest DL, Schiby G, Barshack I, Katz S, Pras E, Poran H, Reznik-Wolf H, Ribakovsky E, Simon C, Hazou W, Sidi Y, Lahad A, Katzir H, Sagie S, Aqeilan HA, Glousker G, Amariglio N, Tzfati Y, Selig S, Rechavi G, Somech R
Title
Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.
