KEGG   DISEASE: Dyskeratosis congenita
Entry
H00507                      Disease                                
Name
Dyskeratosis congenita
  Subgroup
X-linked dyskeratosis congenita (DKCX) [DS:H00788]
Autosomal dominant dyskeratosis congenita (DKCA)
Autosomal recessive dyskeratosis congenita (DKCB)
Digenic dyskeratosis congenita (DKCD)
Revesz syndrome [DS:H00921]
Description
Dyskeratosis congenita (DC) is a severe inherited bone marrow failure syndrome with associated cutaneous and noncutaneous abnormalities. In most cases, the inheritance pattern is X-linked recessive, while autosomal dominant and autosomal recessive forms have been reported. Remarkably, all causative gene mutations identified to date share a link to telomere/telomerase biology. Moreover, dyskeratosis congenita is linked to defective ribosome biogenesis.
Category
Ribosomopathy
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
    H00507  Dyskeratosis congenita
Pathway-based classification of diseases [BR:br08402]
 Replication and repair
  nt06510  Telomere length regulation
   H00507  Dyskeratosis congenita
  nt06506  Double-strand break repair
   H00507  Dyskeratosis congenita
Pathway
hsa03008  Ribosome biogenesis in eukaryotes
Network
nt06506 Double-strand break repair
nt06510 Telomere length regulation
Gene
(DKCX) DKC1 [HSA:1736] [KO:K11131]
(DKCA1) TERC [HSA:7012] [KO:K22183]
(DKCA2/B4) TERT [HSA:7015] [KO:K11126]
(DKCA3/A5) TINF2 [HSA:26277] [KO:K11112]
(DKCA4/B5) RTEL1 [HSA:51750] [KO:K11136]
(DKCA6/B7) ACD [HSA:65057] [KO:K11114]
(DKCB1) NOP10 [HSA:55505] [KO:K11130]
(DKCB2) NHP2 [HSA:55651] [KO:K11129]
(DKCB3) WRAP53 [HSA:55135] [KO:K23314]
(DKCB6) PARN [HSA:5073] [KO:K01148]
(DKCB8) DCLRE1B [HSA:64858] [KO:K15341]
(DKCD) TYMS [HSA:7298] [KO:K00560]
Other DBs
ICD-11: 3A70.0
MeSH: D019871
OMIM: 305000 127550 613989 613990 615190 616553 224230 613987 613988 616353 620133 620040
Reference
  Authors
Kirwan M, Dokal I
  Title
Dyskeratosis congenita: a genetic disorder of many faces.
  Journal
Clin Genet 73:103-12 (2008)
DOI:10.1111/j.1399-0004.2007.00923.x
Reference
PMID:9590285 (DKCX)
  Authors
Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I
  Title
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.
  Journal
Nat Genet 19:32-8 (1998)
DOI:10.1038/ng0598-32
Reference
PMID:11574891 (DKCA1)
  Authors
Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, Dokal I
  Title
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita.
  Journal
Nature 413:432-5 (2001)
DOI:10.1038/35096585
Reference
PMID:18460650 (DKCA2)
  Authors
Basel-Vanagaite L, Dokal I, Tamary H, Avigdor A, Garty BZ, Volkov A, Vulliamy T
  Title
Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations.
  Journal
Haematologica 93:943-4 (2008)
DOI:10.3324/haematol.12317
Reference
PMID:21477109 (DKCA3 DKCA5)
  Authors
Sasa GS, Ribes-Zamora A, Nelson ND, Bertuch AA
  Title
Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.
  Journal
Clin Genet 81:470-8 (2012)
DOI:10.1111/j.1399-0004.2011.01658.x
Reference
PMID:23329068 (DKCA4 DKCB5)
  Authors
Ballew BJ, Yeager M, Jacobs K, Giri N, Boland J, Burdett L, Alter BP, Savage SA
  Title
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.
  Journal
Hum Genet 132:473-80 (2013)
DOI:10.1007/s00439-013-1265-8
Reference
PMID:25205116 (DKCA6)
  Authors
Guo Y, Kartawinata M, Li J, Pickett HA, Teo J, Kilo T, Barbaro PM, Keating B, Chen Y, Tian L, Al-Odaib A, Reddel RR, Christodoulou J, Xu X, Hakonarson H, Bryan TM
  Title
Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.
  Journal
Blood 124:2767-74 (2014)
DOI:10.1182/blood-2014-08-596445
Reference
PMID:17507419 (DKCB1)
  Authors
Walne AJ, Vulliamy T, Marrone A, Beswick R, Kirwan M, Masunari Y, Al-Qurashi FH, Aljurf M, Dokal I
  Title
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.
  Journal
Hum Mol Genet 16:1619-29 (2007)
DOI:10.1093/hmg/ddm111
Reference
PMID:18523010 (DKCB2)
  Authors
Vulliamy T, Beswick R, Kirwan M, Marrone A, Digweed M, Walne A, Dokal I
  Title
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.
  Journal
Proc Natl Acad Sci U S A 105:8073-8 (2008)
DOI:10.1073/pnas.0800042105
Reference
PMID:21205863 (DKCB3)
  Authors
Zhong F, Savage SA, Shkreli M, Giri N, Jessop L, Myers T, Chen R, Alter BP, Artandi SE
  Title
Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita.
  Journal
Genes Dev 25:11-6 (2011)
DOI:10.1101/gad.2006411
Reference
PMID:17785587 (DKCB4)
  Authors
Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, Vulliamy T, Dokal I
  Title
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.
  Journal
Blood 110:4198-205 (2007)
DOI:10.1182/blood-2006-12-062851
Reference
PMID:26342108 (DKCB6)
  Authors
Dhanraj S, Gunja SM, Deveau AP, Nissbeck M, Boonyawat B, Coombs AJ, Renieri A, Mucciolo M, Marozza A, Buoni S, Turner L, Li H, Jarrar A, Sabanayagam M, Kirby M, Shago M, Pinto D, Berman JN, Scherer SW, Virtanen A, Dror Y
  Title
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).
  Journal
J Med Genet 52:738-48 (2015)
DOI:10.1136/jmedgenet-2015-103292
Reference
PMID:25233904 (DKCB7)
  Authors
Kocak H, Ballew BJ, Bisht K, Eggebeen R, Hicks BD, Suman S, O'Neil A, Giri N, Maillard I, Alter BP, Keegan CE, Nandakumar J, Savage SA
  Title
Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.
  Journal
Genes Dev 28:2090-102 (2014)
DOI:10.1101/gad.248567.114
Reference
PMID:35007328 (DKCB8)
  Authors
Kermasson L, Churikov D, Awad A, Smoom R, Lainey E, Touzot F, Audebert-Bellanger S, Haro S, Roger L, Costa E, Mouf M, Bottero A, Oleastro M, Abdo C, de Villartay JP, Geli V, Tzfati Y, Callebaut I, Danielian S, Soares G, Kannengiesser C, Revy P
  Title
Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects.
  Journal
Blood 139:2427-2440 (2022)
DOI:10.1182/blood.2021010791
Reference
PMID:35931051 (DKCD)
  Authors
Tummala H, Walne A, Buccafusca R, Alnajar J, Szabo A, Robinson P, McConkie-Rosell A, Wilson M, Crowley S, Kinsler V, Ewins AM, Madapura PM, Patel M, Pontikos N, Codd V, Vulliamy T, Dokal I
  Title
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.
  Journal
Am J Hum Genet 109:1472-1483 (2022)
DOI:10.1016/j.ajhg.2022.06.014
LinkDB

» Japanese version

KEGG   DISEASE: Pulmonary fibrosis and/or bone marrow failure, telomere-related
Entry
H02569                      Disease                                
Name
Pulmonary fibrosis and/or bone marrow failure, telomere-related
  Supergrp
Idiopathic pulmonary fibrosis [DS:H01299]
Description
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
Pathway
hsa03420 Nucleotide excision repair   
Network
nt06502 Nucleotide excision repair
nt06506 Double-strand break repair
nt06508 Interstrand crosslink repair
nt06509 DNA replication
nt06510 Telomere length regulation
Gene
(PFBMFT1) TERT [HSA:7015] [KO:K11126]
(PFBMFT2) TERC [HSA:7012] [KO:K22183]
(PFBMFT3) RTEL1 [HSA:51750] [KO:K11136]
(PFBMFT4) PARN [HSA:5073] [KO:K01148]
(PFBMFT5) ZCCHC8 [HSA:55596] [KO:K13128]
(PFBMFT6) RPA1 [HSA:6117] [KO:K07466]
(PFBMFT7) NAF1 [HSA:92345] [KO:K14763]
(PFBMFT8) POT1 [HSA:25913] [KO:K11109]
(PFBMFT9) NOP10 [HSA:55505] [KO:K11130]
Other DBs
ICD-11: 3A70.0
OMIM: 614742 614743 616373 616371 618674 619767 620365 620367 620400
Reference
  Authors
Gansner JM, Rosas IO, Ebert BL
  Title
Pulmonary fibrosis, bone marrow failure, and telomerase mutation.
  Journal
N Engl J Med 366:1551-3 (2012)
DOI:10.1056/NEJMc1200999
Reference
PMID:15814878 (PFBMFT1)
  Authors
Yamaguchi H, Calado RT, Ly H, Kajigaya S, Baerlocher GM, Chanock SJ, Lansdorp PM, Young NS
  Title
Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.
  Journal
N Engl J Med 352:1413-24 (2005)
DOI:10.1056/NEJMoa042980
Reference
PMID:12090986 (PFBMFT2)
  Authors
Vulliamy T, Marrone A, Dokal I, Mason PJ
  Title
Association between aplastic anaemia and mutations in telomerase RNA.
  Journal
Lancet 359:2168-70 (2002)
DOI:10.1016/S0140-6736(02)09087-6
Reference
PMID:25848748 (PFBMFT3 PFBMFT4)
  Authors
Stuart BD, Choi J, Zaidi S, Xing C, Holohan B, Chen R, Choi M, Dharwadkar P, Torres F, Girod CE, Weissler J, Fitzgerald J, Kershaw C, Klesney-Tait J, Mageto Y, Shay JW, Ji W, Bilguvar K, Mane S, Lifton RP, Garcia CK
  Title
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.
  Journal
Nat Genet 47:512-7 (2015)
DOI:10.1038/ng.3278
Reference
PMID:31488579 (PFBMFT5)
  Authors
Gable DL, Gaysinskaya V, Atik CC, Talbot CC Jr, Kang B, Stanley SE, Pugh EW, Amat-Codina N, Schenk KM, Arcasoy MO, Brayton C, Florea L, Armanios M
  Title
ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation.
  Journal
Genes Dev 33:1381-1396 (2019)
DOI:10.1101/gad.326785.119
Reference
PMID:34767620 (PFBMFT6)
  Authors
Sharma R, Sahoo SS, Honda M, Granger SL, Goodings C, Sanchez L, Kunstner A, Busch H, Beier F, Pruett-Miller SM, Valentine MB, Fernandez AG, Chang TC, Geli V, Churikov D, Hirschi S, Pastor VB, Boerries M, Lauten M, Kelaidi C, Cooper MA, Nicholas S, Rosenfeld JA, Polychronopoulou S, Kannengiesser C, Saintome C, Niemeyer CM, Revy P, Wold MS, Spies M, Erlacher M, Coulon S, Wlodarski MW
  Title
Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue.
  Journal
Blood 139:1039-1051 (2022)
DOI:10.1182/blood.2021011980
Reference
PMID:27510903 (PFBMFT7)
  Authors
Stanley SE, Gable DL, Wagner CL, Carlile TM, Hanumanthu VS, Podlevsky JD, Khalil SE, DeZern AE, Rojas-Duran MF, Applegate CD, Alder JK, Parry EM, Gilbert WV, Armanios M
  Title
Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema.
  Journal
Sci Transl Med 8:351ra107 (2016)
DOI:10.1126/scitranslmed.aaf7837
Reference
PMID:35420632 (PFBMFT8)
  Authors
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.
  Journal
J Exp Med 219:213140 (2022)
DOI:10.1084/jem.20211681
Reference
PMID:32139460 (PFBMFT9)
  Authors
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.
  Journal
Eur Respir J 55:1902465 (2020)
DOI:10.1183/13993003.02465-2019
LinkDB

» Japanese version

KEGG   DISEASE: Aplastic anemia
Entry
H01132                      Disease                                
Name
Aplastic anemia
Description
Aplastic anemia (AA) is a rare disease in which the reduction of the circulating blood cells results from damage to the stem cell pool in bone marrow. Most cases of acquired aplastic anemia are the consequence of an immune-mediated destruction of hematopoiesis. Autoreactive cytotoxic T cells play a key role in the pathogenesis of AA by myelosuppressive cytokines including interferon-gamma. It has been reported that polymorphisms in IFNG are related to AA. A minority of patients with AA has heterozygous mutations in genes encoding the telomerase components TERT or TERC. Immunosuppressive therapy (IST) is one of the main treatment modalities for AA, although most patients with telomerase mutations do not respond adequately to IST.
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
    H01132  Aplastic anemia
Pathway-based classification of diseases [BR:br08402]
 Replication and repair
  nt06510  Telomere length regulation
   H01132  Aplastic anemia
  nt06506  Double-strand break repair
   H01132  Aplastic anemia
Pathway
hsa04657  IL-17 signaling pathway
hsa04650  Natural killer cell mediated cytotoxicity
hsa04659  Th17 cell differentiation
hsa04380  Osteoclast differentiation
hsa04612  Antigen processing and presentation
Network
nt06506 Double-strand break repair
nt06510 Telomere length regulation
Gene
TERC [HSA:7012] [KO:K22183]
TERT [HSA:7015] [KO:K11126]
IFNG [HSA:3458] [KO:K04687]
PRF1 [HSA:5551] [KO:K07818]
SBDS [HSA:51119] [KO:K14574]
NBN [HSA:4683] [KO:K10867]
Drug
Oxymetholone [DR:D00490]
Ticlopidine hydrochloride [DR:D01028]
Eltrombopag olamine [DR:D03978]
Eltrombopag choline [DR:D12815]
Other DBs
ICD-11: 3A70
MeSH: D000741
OMIM: 609135
Reference
PMID:20008219 (TERC, TERT)
  Authors
Calado RT
  Title
Telomeres and marrow failure.
  Journal
Hematology Am Soc Hematol Educ Program 338-43 (2009)
DOI:10.1182/asheducation-2009.1.338
Reference
PMID:20953611 (IFNG)
  Authors
Lee YG, Kim I, Kim JH, Bae JY, Kwon JH, Shin DY, Lee JE, Song EY, Kim HK, Yoon SS, Park SS, Lee DS, Han KS, Park MH, Hong YC, Park S, Kim BK
  Title
Impact of cytokine gene polymorphisms on risk and treatment outcomes of aplastic anemia.
  Journal
Ann Hematol 90:515-21 (2011)
DOI:10.1007/s00277-010-1102-2
Reference
PMID:17311987 (PRF1)
  Authors
Solomou EE, Gibellini F, Stewart B, Malide D, Berg M, Visconte V, Green S, Childs R, Chanock SJ, Young NS
  Title
Perforin gene mutations in patients with acquired aplastic anemia.
  Journal
Blood 109:5234-7 (2007)
DOI:10.1182/blood-2006-12-063495
Reference
PMID:17478638 (SBDS)
  Authors
Calado RT, Graf SA, Wilkerson KL, Kajigaya S, Ancliff PJ, Dror Y, Chanock SJ, Lansdorp PM, Young NS
  Title
Mutations in the SBDS gene in acquired aplastic anemia.
  Journal
Blood 110:1141-6 (2007)
DOI:10.1182/blood-2007-03-080044
Reference
PMID:15338273 (NBN)
  Authors
Shimada H, Shimizu K, Mimaki S, Sakiyama T, Mori T, Shimasaki N, Yokota J, Nakachi K, Ohta T, Ohki M
  Title
First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability.
  Journal
Hum Genet 115:372-6 (2004)
DOI:10.1007/s00439-004-1155-1
LinkDB

» Japanese version

KEGG   DISEASE: Melanoma
Entry
H00038                      Disease                                
Name
Melanoma
  Subgroup
Cutaneous malignant melanoma (CMM)
  Supergrp
Solid tumor [DS:H02421]
Description
Melanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes. The only known environmental risk factor is exposure to ultraviolet (UV) light and in people with fair skin the risk is greatly increased. Melanoma pathogenesis is also driven by genetic factors. Oncogenic NRAS mutations activate both effector pathways Raf-MEK-ERK and PI3K-Akt. The Raf-MEK-ERK pathway may also be activated via mutations in the BRAF gene. The PI3K-Akt pathway may be activated through loss or mutation of the inhibitory tumor suppressor gene PTEN. These mutations arise early during melanoma pathogenesis and are preserved throughout tumor progression. Melanoma development has been shown to be strongly associated with inactivation of the p16INK4a/cyclin dependent kinases 4 and 6/retinoblastoma protein (p16INK4a/CDK4,6/pRb) and p14ARF/human double minute 2/p53 (p14ARF/HMD2/p53) tumor suppressor pathways. MITF and TP53 are implicated in further melanoma progression.
Category
Cancer
Brite
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Malignant neoplasms, except primary neoplasms of lymphoid, haematopoietic, central nervous system or related tissues
   Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
    Malignant neoplasms of skin
     2C30  Melanoma of skin
      H00038  Melanoma
Pathway-based classification of diseases [BR:br08402]
 Replication and repair
  nt06510  Telomere length regulation
   H00038  Melanoma
  nt06506  Double-strand break repair
   H00038  Melanoma
 Signal transduction
  nt06526  MAPK signaling
   H00038  Melanoma
Tumor markers [br08442.html]
 H00038
Cancer-associated carbohydrates [br08441.html]
 H00038
Disease
pathway
hsa05218  Melanoma
Network
nt06268 Melanoma
nt06506 Double-strand break repair
nt06510 Telomere length regulation
Gene
(CMM2) CDKN2A [HSA:1029] [KO:K06621]
(CMM3) CDK4 [HSA:1019] [KO:K02089]
(CMM5) MC1R [HSA:4157] [KO:K04199]
(CMM6) XRCC3 [HSA:7517] [KO:K10880]
(CMM8) MITF (amplification) [HSA:4286] [KO:K09455]
(CMM9) TERT [HSA:7015] [KO:K11126]
(CMM10) POT1 [HSA:25913] [KO:K11109]
BRAF [HSA:673] [KO:K04365]
STK11 [HSA:6794] [KO:K07298]
NRAS [HSA:4893] [KO:K07828]
PTEN [HSA:5728] [KO:K01110]
TP53 [HSA:7157] [KO:K04451]
Drug
Dacarbazine [DR:D00288]
Vemurafenib [DR:D09996] (BRAF mutation positive)
Dabrafenib mesylate [DR:D10104] (BRAF mutation positive)
Encorafenib [DR:D11053] (BRAF mutation positive)
Trametinib dimethyl sulfoxide [DR:D10176] (BRAF mutation positive)
Cobimetinib fumarate [DR:D10615] (BRAF mutation positive)
Binimetinib [DR:D10604] (BRAF mutation positive)
Nivolumab [DR:D10316]
Pembrolizumab [DR:D10574]
Ipilimumab [DR:D04603]
Nivolumab and relatlimab [DR:D12334]
Talimogene laherparepvec [DR:D09966]
Lifileucel [DR:D12833] (BRAF V600 mutation positive)
Tebentafusp [DR:D12296] (HLA-A*02:01 positive)
Interferon alfa-2b [DR:D02745]
Peginterferon alfa-2b [DR:D02748]
Aldesleukin [DR:D00748]
Other DBs
ICD-11: 2C30
MeSH: D008545
OMIM: 613099 613972 615134 155600 155601 609048 614456 615848
Reference
  Authors
Miller AJ, Mihm MC Jr.
  Title
Melanoma.
  Journal
N Engl J Med 355:51-65 (2006)
DOI:10.1056/NEJMra052166
Reference
  Authors
Tsai KY, Tsao H.
  Title
The genetics of skin cancer.
  Journal
Am J Med Genet C Semin Med Genet 131C:82-92 (2004)
DOI:10.1002/ajmg.c.30037
Reference
PMID:17492760 (CDKN2A)
  Authors
Kannengiesser C, Dalle S, Leccia MT, Avril MF, Bonadona V, Chompret A, Lasset C, Leroux D, Thomas L, Lesueur F, Lenoir G, Sarasin A, Bressac-de Paillerets B
  Title
New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment.
  Journal
Genes Chromosomes Cancer 46:751-60 (2007)
DOI:10.1002/gcc.20461
Reference
PMID:15880589 (CDK4)
  Authors
Molven A, Grimstvedt MB, Steine SJ, Harland M, Avril MF, Hayward NK, Akslen LA
  Title
A large Norwegian family with inherited malignant melanoma, multiple atypical nevi, and CDK4 mutation.
  Journal
Genes Chromosomes Cancer 44:10-8 (2005)
DOI:10.1002/gcc.20202
Reference
PMID:16809487 (MC1R)
  Authors
Landi MT, Bauer J, Pfeiffer RM, Elder DE, Hulley B, Minghetti P, Calista D, Kanetsky PA, Pinkel D, Bastian BC
  Title
MC1R germline variants confer risk for BRAF-mutant melanoma.
  Journal
Science 313:521-2 (2006)
DOI:10.1126/science.1127515
Reference
PMID:11059748 (XRCC3)
  Authors
Winsey SL, Haldar NA, Marsh HP, Bunce M, Marshall SE, Harris AL, Wojnarowska F, Welsh KI
  Title
A variant within the DNA repair gene XRCC3 is associated with the development of melanoma skin cancer.
  Journal
Cancer Res 60:5612-6 (2000)
Reference
PMID:22012259 (MITF)
  Authors
Bertolotto C, Lesueur F, Giuliano S, Strub T, de Lichy M, Bille K, Dessen P, d'Hayer B, Mohamdi H, Remenieras A, Maubec E, de la Fouchardiere A, Molinie V, Vabres P, Dalle S, Poulalhon N, Martin-Denavit T, Thomas L, Andry-Benzaquen P, Dupin N, Boitier F, Rossi A, Perrot JL, Labeille B, Robert C, Escudier B, Caron O, Brugieres L, Saule S, Gardie B, Gad S, Richard S, Couturier J, Teh BT, Ghiorzo P, Pastorino L, Puig S, Badenas C, Olsson H, Ingvar C, Rouleau E, Lidereau R, Bahadoran P, Vielh P, Corda E, Blanche H, Zelenika D, Galan P, Aubin F, Bachollet B, Becuwe C, Berthet P, Bignon YJ, Bonadona V, Bonafe JL, Bonnet-Dupeyron MN, Cambazard F, Chevrant-Breton J, Coupier I, Dalac S, Demange L, d'Incan M, Dugast C, Faivre L, Vincent-Fetita L, Gauthier-Villars M, Gilbert B, Grange F, Grob JJ, Humbert P, Janin N, Joly P, Kerob D, Lasset C, Leroux D, Levang J, Limacher JM, Livideanu C, Longy M, Lortholary A, Stoppa-Lyonnet D, Mansard S, Mansuy L, Marrou K, Mateus C, Maugard C, Meyer N, Nogues C, Souteyrand P, Venat-Bouvet L, Zattara H, Chaudru V, Lenoir GM, Lathrop M, Davidson I, Avril MF, Demenais F, Ballotti R, Bressac-de Paillerets B
  Title
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
  Journal
Nature 480:94-8 (2011)
DOI:10.1038/nature10539
Reference
PMID:23348506 (TERT)
  Authors
Huang FW, Hodis E, Xu MJ, Kryukov GV, Chin L, Garraway LA
  Title
Highly recurrent TERT promoter mutations in human melanoma.
  Journal
Science 339:957-9 (2013)
DOI:10.1126/science.1229259
Reference
PMID:24686849 (POT1)
  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:15785879 (BRAF)
  Authors
Gray-Schopfer VC, da Rocha Dias S, Marais R.
  Title
The role of B-RAF in melanoma.
  Journal
Cancer Metastasis Rev 24:165-83 (2005)
DOI:10.1007/s10555-005-5865-1
Reference
PMID:10208439 (STK11)
  Authors
Guldberg P, thor Straten P, Ahrenkiel V, Seremet T, Kirkin AF, Zeuthen J
  Title
Somatic mutation of the Peutz-Jeghers syndrome gene, LKB1/STK11, in malignant melanoma.
  Journal
Oncogene 18:1777-80 (1999)
DOI:10.1038/sj.onc.1202486
Reference
PMID:19037234 (NRAS BRAF)
  Authors
Greene VR, Johnson MM, Grimm EA, Ellerhorst JA
  Title
Frequencies of NRAS and BRAF mutations increase from the radial to the vertical growth phase in cutaneous melanoma.
  Journal
J Invest Dermatol 129:1483-8 (2009)
DOI:10.1038/jid.2008.374
Reference
PMID:10651986 (PTEN)
  Authors
Birck A, Ahrenkiel V, Zeuthen J, Hou-Jensen K, Guldberg P
  Title
Mutation and allelic loss of the PTEN/MMAC1 gene in primary and metastatic melanoma biopsies.
  Journal
J Invest Dermatol 114:277-80 (2000)
DOI:10.1046/j.1523-1747.2000.00877.x
LinkDB

» Japanese version

DBGET integrated database retrieval system