1
|
Chandrasekharappa SC, Guru SC, Manickam P,
Olufemi SE, Collins FS, Emmert-Buck MR, Debelenko LV, Zhuang Z,
Lubensky IA, Liotta LA, et al: Positional cloning of the gene for
multiple endocrine neoplasia-type 1. Science. 276:404–407. 1997.
View Article : Google Scholar : PubMed/NCBI
|
2
|
Tonelli F, Giudici F, Fratini G and Brandi
ML: Pancreatic endocrine tumors in multiple endocrine neoplasia
type 1 syndrome: Review of literature. Endocr Pract. 17 Suppl
3:S33–S40. 2011. View Article : Google Scholar
|
3
|
Busygina V, Suphapeetiporn K, Marek LR,
Stowers RS, Xu T and Bale AE: Hypermutability in a Drosophila model
for multiple endocrine neoplasia type 1. Hum Mol Genet.
13:2399–2408. 2004. View Article : Google Scholar : PubMed/NCBI
|
4
|
Agarwal SK, Guru SC, Heppner C, Erdos MR,
Collins RM, Park SY, Saggar S, Chandrasekharappa SC, Collins FS,
Spiegel AM, et al: Menin interacts with the AP1 transcription
factor JunD and represses JunD-activated transcription. Cell.
96:143–152. 1999. View Article : Google Scholar : PubMed/NCBI
|
5
|
Lin SY and Elledge SJ: Multiple tumor
suppressor pathways negatively regulate telomerase. Cell.
113:881–889. 2003. View Article : Google Scholar : PubMed/NCBI
|
6
|
Fang M, Xia F, Mahalingam M, Virbasius CM,
Wajapeyee N and Green MR: MEN1 is a melanoma tumor suppressor that
preserves genomic integrity by stimulating transcription of genes
that promote homologous recombination-directed DNA repair. Mol Cell
Biol. 33:2635–2647. 2013. View Article : Google Scholar : PubMed/NCBI
|
7
|
Lubensky IA, Debelenko LV, Zhuang Z,
Emmert-Buck MR, Dong Q, Chandrasekharappa S, Guru SC, Manickam P,
Olufemi SE, Marx SJ, et al: Allelic deletions on chromosome 11q13
in multiple tumors from individual MEN1 patients. Cancer Res.
56:5272–5278. 1996.PubMed/NCBI
|
8
|
Perren A, Anlauf M, Henopp T, Rudolph T,
Schmitt A, Raffel A, Gimm O, Weihe E, Knoefel WT, Dralle H, et al:
Multiple endocrine neoplasia type 1 (MEN1): Loss of one MEN1 allele
in tumors and monohormonal endocrine cell clusters but not in islet
hyperplasia of the pancreas. J Clin Endocrinol Metab. 92:1118–1128.
2007. View Article : Google Scholar : PubMed/NCBI
|
9
|
Scarpa A, Chang DK, Nones K, Corbo V,
Patch AM, Bailey P, Lawlor RT, Johns AL, Miller DK, Mafficini A, et
al: Whole-genome landscape of pancreatic neuroendocrine tumours.
Nature. 543:65–71. 2017. View Article : Google Scholar : PubMed/NCBI
|
10
|
Jiao Y, Shi C, Edil BH, de Wilde RF,
Klimstra DS, Maitra A, Schulick RD, Tang LH, Wolfgang CL, Choti MA,
et al: DAXX/ATRX, MEN1, and mTOR pathway genes are frequently
altered in pancreatic neuroendocrine tumors. Science.
331:1199–1203. 2011. View Article : Google Scholar : PubMed/NCBI
|
11
|
Lemos MC and Thakker RV: Multiple
endocrine neoplasia type 1 (MEN1): Analysis of 1336 mutations
reported in the first decade following identification of the gene.
Hum Mutat. 29:22–32. 2008. View Article : Google Scholar : PubMed/NCBI
|
12
|
Concolino P, Costella A and Capoluongo E:
Multiple endocrine neoplasia type 1 (MEN1): An update of 208 new
germline variants reported in the last nine years. Cancer Genet.
209:36–41. 2016. View Article : Google Scholar : PubMed/NCBI
|
13
|
Fontaniere S, Tost J, Wierinckx A, Lachuer
J, Lu J, Hussein N, Busato F, Gut I, Wang ZQ and Zhang CX: Gene
expression profiling in insulinomas of Men1 beta-cell mutant mice
reveals early genetic and epigenetic events involved in pancreatic
beta-cell tumorigenesis. Endocr Relat Cancer. 13:1223–1236. 2006.
View Article : Google Scholar : PubMed/NCBI
|
14
|
Crabtree JS, Scacheri PC, Ward JM, McNally
SR, Swain GP, Montagna C, Hager JH, Hanahan D, Edlund H, Magnuson
MA, et al: Of mice and MEN1: Insulinomas in a conditional mouse
knockout. Mol Cell Biol. 23:6075–6085. 2003. View Article : Google Scholar : PubMed/NCBI
|
15
|
Le Bodic MF, Heymann MF, Lecomte M, Berger
N, Berger F, Louvel A, De Micco C, Patey M, De Mascarel A, Burtin F
and Saint-Andre JP: Immunohistochemical study of 100 pancreatic
tumors in 28 patients with multiple endocrine neoplasia, type I. Am
J Surg Pathol. 20:1378–1384. 1996. View Article : Google Scholar : PubMed/NCBI
|
16
|
Cao Y, Gao Z, Li L, Jiang X, Shan A, Cai
J, Peng Y, Li Y, Huang X, Wang J, et al: Whole exome sequencing of
insulinoma reveals recurrent T372R mutations in YY1. Nat Commun.
4:28102013. View Article : Google Scholar : PubMed/NCBI
|
17
|
Cromer MK, Choi M, Nelson-Williams C,
Fonseca AL, Kunstman JW, Korah RM, Overton JD, Mane S, Kenney B,
Malchoff CD, et al: Neomorphic effects of recurrent somatic
mutations in Yin Yang 1 in insulin-producing adenomas. Proc Natl
Acad Sci USA. 112:4062–4067. 2015. View Article : Google Scholar : PubMed/NCBI
|
18
|
Lichtenauer UD, Di Dalmazi G, Slater EP,
Wieland T, Kuebart A, Schmittfull A, Schwarzmayr T, Diener S, Wiese
D, Thasler WE, et al: Frequency and clinical correlates of somatic
Ying Yang 1 mutations in sporadic insulinomas. J Clin Endocrinol
Metab. 100:E776–E782. 2015. View Article : Google Scholar : PubMed/NCBI
|
19
|
Arenas Romero MA, Fowler RG, Lucas San FA,
Shen J, Rich TA, Grubbs EG, Lee JE, Scheet P, Perrier ND and Zhao
H: Preliminary whole-exome sequencing reveals mutations that imply
common tumorigenicity pathways in multiple endocrine neoplasia type
1 patients. Surgery. 156:1351–1358. 2014. View Article : Google Scholar : PubMed/NCBI
|
20
|
World Medical Association: World Medical
Association declaration of Helsinki: Ethical principles for medical
research involving human subjects. Jama. 310:2191–2194. 2013.
View Article : Google Scholar : PubMed/NCBI
|
21
|
Cibulskis K, Lawrence MS, Carter SL,
Sivachenko A, Jaffe D, Sougnez C, Gabriel S, Meyerson M, Lander ES
and Getz G: Sensitive detection of somatic point mutations in
impure and heterogeneous cancer samples. Nat Biotechnol.
31:213–219. 2013. View
Article : Google Scholar : PubMed/NCBI
|
22
|
Saunders CT, Wong WS, Swamy S, Becq J,
Murray LJ and Cheetham RK: Strelka: Accurate somatic small-variant
calling from sequenced tumor-normal sample pairs. Bioinformatics.
28:1811–1817. 2012. View Article : Google Scholar : PubMed/NCBI
|
23
|
Wang K, Li M and Hakonarson H: ANNOVAR:
Functional annotation of genetic variants from high-throughput
sequencing data. Nucleic Acids Res. 38:e1642010. View Article : Google Scholar : PubMed/NCBI
|
24
|
Favero F, Joshi T, Marquard AM, Birkbak
NJ, Krzystanek M, Li Q, Szallasi Z and Eklund AC: Sequenza:
Allele-specific copy number and mutation profiles from tumor
sequencing data. Ann Oncol. 26:64–70. 2015. View Article : Google Scholar : PubMed/NCBI
|
25
|
Yang Z, Tan H, Sun Y, Si S, Xu L, Liu X,
Liu L, Zhou W and Huang J: Intraoperative portal vein insulin assay
combined with occlusion of the pancreas for complex pancreatogenous
hypoglycemia: Two cases report. Medicine (Baltimore). 95:e39282016.
View Article : Google Scholar : PubMed/NCBI
|
26
|
Cao P, Abedini A and Raleigh DP:
Aggregation of islet amyloid polypeptide: From physical chemistry
to cell biology. Curr Opin Struct Biol. 23:82–89. 2013. View Article : Google Scholar : PubMed/NCBI
|
27
|
O'Brien TD, Butler AE, Roche PC, Johnson
KH and Butler PC: Islet amyloid polypeptide in human insulinomas.
Evidence for intracellular amyloidogenesis. Diabetes. 43:329–336.
1994. View Article : Google Scholar : PubMed/NCBI
|
28
|
Larsson LI, Grimelius L, Hakanson R,
Rehfeld JF, Stadil F, Holst J, Angervall L and Sundler F: Mixed
endocrine pancreatic tumors producing several peptide hormones. Am
J Pathol. 79:271–284. 1975.PubMed/NCBI
|
29
|
Dong C, Wei P, Jian X, Gibbs R, Boerwinkle
E, Wang K and Liu X: Comparison and integration of deleteriousness
prediction methods for nonsynonymous SNVs in whole exome sequencing
studies. Hum Mol Genet. 24:2125–2137. 2015. View Article : Google Scholar : PubMed/NCBI
|
30
|
Leir SH and Harris A: MUC6 mucin
expression inhibits tumor cell invasion. Exp Cell Res.
317:2408–2419. 2011. View Article : Google Scholar : PubMed/NCBI
|
31
|
Betge J, Schneider NI, Harbaum L,
Pollheimer MJ, Lindtner RA, Kornprat P, Ebert MP and Langner C:
MUC1, MUC2, MUC5AC, and MUC6 in colorectal cancer: Expression
profiles and clinical significance. Virchows Arch. 469:255–265.
2016. View Article : Google Scholar : PubMed/NCBI
|
32
|
Dougherty JD, Fomchenko EI, Akuffo AA,
Schmidt E, Helmy KY, Bazzoli E, Brennan CW, Holland EC and
Milosevic A: Candidate pathways for promoting differentiation or
quiescence of oligodendrocyte progenitor-like cells in glioma.
Cancer Res. 72:4856–4868. 2012. View Article : Google Scholar : PubMed/NCBI
|
33
|
Bhatti TR, Ganapathy K, Huppmann AR,
Conlin L, Boodhansingh KE, MacMullen C, Becker S, Ernst LM, Adzick
NS, Ruchelli ED, et al: Histologic and molecular profile of
pediatric insulinomas: Evidence of a paternal parent-of-origin
effect. J Clin Endocrinol Metab. 101:914–922. 2016. View Article : Google Scholar : PubMed/NCBI
|
34
|
Takahashi M: Genetic mutation accumulation
and clinical outcome of immune checkpoint blockade therapy. Gan To
Kagaku Ryoho. 43:678–682. 2016.(In Japanese). PubMed/NCBI
|
35
|
Birkbak NJ, Kochupurakkal B, Izarzugaza
JM, Eklund AC, Li Y, Liu J, Szallasi Z, Matulonis UA, Richardson
AL, Iglehart JD and Wang ZC: Tumor mutation burden forecasts
outcome in ovarian cancer with BRCA1 or BRCA2 mutations. PLoS One.
8:e800232013. View Article : Google Scholar : PubMed/NCBI
|