KEGG DISEASE: Tumor predisposition syndrome

DISEASE: Tumor predisposition syndrome

Entry

H02624                      Disease

Name

Tumor predisposition syndrome

Description

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

Pathway

hsa03410 Base excision repair

Network

nt06504 Base excision repair
nt06510 Telomere length regulation
nt06523 Epigenetic regulation by Polycomb complexes

Gene

(TPDS1) BAP1 [HSA:8314] [KO:K08588]
(TPDS2) MBD4 [HSA:8930] [KO:K10801]
(TPDS3) POT1 [HSA:25913] [KO:K11109]
(TPDS4) CHEK2 [HSA:11200] [KO:K06641]

Other DBs

ICD-11:

2F7Y

OMIM:

614327 619975 615848 609265

Reference

PMID:32877777

Authors

Louie BH, Kurzrock R

Title

BAP1: Not just a BRCA1-associated protein.

Journal

Cancer Treat Rev 90:102091 (2020)
DOI:10.1016/j.ctrv.2020.102091

Reference

PMID:21941004 (TPDS1)

Authors

Abdel-Rahman MH, Pilarski R, Cebulla CM, Massengill JB, Christopher BN, Boru G, Hovland P, Davidorf FH

Title

Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers.

Journal

J Med Genet 48:856-9 (2011)
DOI:10.1136/jmedgenet-2011-100156

Reference

PMID:35460607 (TPDS2)

Authors

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.

Journal

Am J Hum Genet 109:953-960 (2022)
DOI:10.1016/j.ajhg.2022.03.018

Reference

PMID:24686849 (TPDS3)

Authors

Robles-Espinoza CD, Harland M, Ramsay AJ, Aoude LG, Quesada V, Ding Z, Pooley KA, Pritchard AL, Tiffen JC, Petljak M, Palmer JM, Symmons J, Johansson P, Stark MS, Gartside MG, Snowden H, Montgomery GW, Martin NG, Liu JZ, Choi J, Makowski M, Brown KM, Dunning AM, Keane TM, Lopez-Otin C, Gruis NA, Hayward NK, Bishop DT, Newton-Bishop JA, Adams DJ

Title

POT1 loss-of-function variants predispose to familial melanoma.

Journal

Nat Genet 46:478-481 (2014)
DOI:10.1038/ng.2947

Reference

PMID:10617473 (TPDS4)

Authors

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.

Journal

Science 286:2528-31 (1999)
DOI:10.1126/science.286.5449.2528

LinkDB

» Japanese version

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