|
1
|
Miyazaki M, Ohtsuka M, Miyakawa S, Nagino
M, Yamamoto M, Kokudo N, Sano K, Endo I, Unno M, Chijiiwa K, et al:
Classification of biliary tract cancers established by the Japanese
Society of Hepato-Biliary-Pancreatic Surgery: 3(rd) English
edition. J Hepatobiliary Pancreat Sci. 22:181–196. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Castro FA, Koshiol J, Hsing AW and Devesa
SS: Biliary tract cancer incidence in the United States-Demographic
and temporal variations by anatomic site. Int J Cancer.
133:1664–1671. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Randi G, Malvezzi M, Levi F, Ferlay J,
Negri E, Franceschi S and La Vecchia C: Epidemiology of biliary
tract cancers: An update. Ann Oncol. 20:146–159. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Ong CK, Subimerb C, Pairojkul C, Wongkham
S, Cutcutache I, Yu W, McPherson JR, Allen GE, Ng CC, Wong BH, et
al: Exome sequencing of liver fluke-associated cholangiocarcinoma.
Nat Genet. 44:690–693. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Chan-on W, Nairismägi ML, Ong CK, Lim WK,
Dima S, Pairojkul C, Lim KH, McPherson JR, Cutcutache I, Heng HL,
et al: Exome sequencing identifies distinct mutational patterns in
liver fluke-related and non-infection-related bile duct cancers.
Nat Genet. 45:1474–1478. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Okusaka T, Nakachi K, Fukutomi A, Mizuno
N, Ohkawa S, Funakoshi A, Nagino M, Kondo S, Nagaoka S, Funai J, et
al: Gemcitabine alone or in combination with cisplatin in patients
with biliary tract cancer: A comparative multicentre study in
Japan. Br J Cancer. 103:469–474. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Valle J, Wasan H, Palmer DH, Cunningham D,
Anthoney A, Maraveyas A, Madhusudan S, Iveson T, Hughes S, Pereira
SP, et al: Cisplatin plus gemcitabine versus gemcitabine for
biliary tract cancer. N Engl J Med. 362:1273–6981. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Anderson CD, Pinson CW, Berlin J and Chari
RS: Diagnosis and treatment of cholangiocarcinoma. Oncologist.
9:43–57. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
DeOliveira ML, Cunningham SC, Cameron JL,
Kamangar F, Winter JM, Lillemoe KD, Choti MA, Yeo CJ and Schulick
RD: Cholangiocarcinoma: Thirty-one-year experience with 564
patients at a single institution. Ann Surg. 245:755–762. 2007.
View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Lazaridis KN and Gores GJ:
Cholangiocarcinoma. Gastroenterology. 128:1655–1667. 2005.
View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Shaib YH, El-Serag HB, Davila JA, Morgan R
and McGlynn KA: Risk factors of intrahepatic cholangiocarcinoma in
the United States: A case-control study. Gastroenterology.
128:620–626. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Welzel TM, Graubard BI, El-Serag HB, Shaib
YH, Hsing AW, Davila JA and McGlynn KA: Risk factors for
intrahepatic and extrahepatic cholangiocarcinoma in the United
States: A population-based case-control study. Clin Gastroenterol
Hepatol. 5:1221–1228. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Boonstra K, Weersma RK, van Erpecum KJ,
Rauws EA, Spanier BW, Poen AC, van Nieuwkerk KM, Drenth JP,
Witteman BJ, Tuynman HA, et al: Population-based epidemiology,
malignancy risk, and outcome of primary sclerosing cholangitis.
Hepatology. 58:2045–2055. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Funabiki T, Matsubara T, Miyakawa S and
Ishihara S: Pancreaticobiliary maljunction and carcinogenesis to
biliary and pancreatic malignancy. Langenbecks Arch Surg.
394:159–169. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Jiao Y, Pawlik TM, Anders RA, Selaru FM,
Streppel MM, Lucas DJ, Niknafs N, Guthrie VB, Maitra A, Argani P,
et al: Exome sequencing identifies frequent inactivating mutations
in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas. Nat
Genet. 45:1470–1473. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Churi CR, Shroff R, Wang Y, Rashid A, Kang
HC, Weatherly J, Zuo M, Zinner R, Hong D, Meric-Bernstam F, et al:
Mutation Profiling in Cholangiocarcinoma: Prognostic and
Therapeutic Implications. PLoS One. 9:e1153832014. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Kim YT, Kim J, Jang YH, Lee WJ, Ryu JK,
Park YK, Kim SW, Kim WH, Yoon YB and Kim CY: Genetic alterations in
gallbladder adenoma, dysplasia and carcinoma. Cancer Lett.
169:59–68. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Kumari N, Corless CL, Warrick A, Beadling
C, Nelson D, Neff T, Krishnani N and Kapoor VK: Mutation profiling
in gallbladder cancer in Indian population. Indian J Pathol
Microbiol. 57:9–12. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Chang YT, Chang MC, Huang KW, Tung CC, Hsu
C and Wong JM: Clinicopathological and prognostic significances of
EGFR KRAS and BRAF mutations in biliary tract carcinomas in Taiwan.
J Gastroenterol Hepatol. 29:1119–1125. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Ohashi K, Tsutsumi M, Nakajima Y, Noguchi
O, Okita S, Kitada H, Tsujiuchi T, Kobayashi E, Nakano H and
Konishi Y: High rates of Ki-ras point mutation in both intra- and
extra-hepatic cholangiocarcinomas. Jpn J Clin Oncol. 24:305–310.
1994.PubMed/NCBI
|
|
21
|
Schönleben F, Qiu W, Allendorf JD, Chabot
JA, Remotti HE and Su GH: Molecular analysis of PIK3CA, BRAF, and
RAS oncogenes in periampullary and ampullary adenomas and
carcinomas. J Gastrointest Surg. 13:1510–1516. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Howe JR, Klimstra DS, Cordon-Cardo C, Paty
PB, Park PY and Brennan MF: K-ras mutation in adenomas and
carcinomas of the ampulla of vater. Clin Cancer Res. 3:129–133.
1997.PubMed/NCBI
|
|
23
|
Matsubayashi H, Watanabe H, Yamaguchi T,
Ajioka Y, Nishikura K, Kijima H and Saito T: Differences in mucus
and K-ras mutation in relation to phenotypes of tumors of the
papilla of vater. Cancer. 86:596–607. 1999. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Vogelstein B, Fearon ER, Hamilton SR, Kern
SE, Preisinger AC, Leppert M, Nakamura Y, White R, Smits AM and Bos
JL: Genetic alterations during colorectal-tumor development. N Engl
J Med. 319:525–532. 1988. View Article : Google Scholar : PubMed/NCBI
|
|
25
|
Bos JL: Ras oncogenes in human cancer: A
review. Cancer Res. 49:4682–4699. 1989.PubMed/NCBI
|
|
26
|
Bártek J, Bártkova J, Vojtĕsek B, Stasková
Z, Rejthar A, Kovarík J and Lane DP: Patterns of expression of the
p53 tumour suppressor in human breast tissues and tumours in situ
and in vitro. Int J Cancer. 46:839–844. 1990. View Article : Google Scholar : PubMed/NCBI
|
|
27
|
Iggo R, Gatter K, Bartek J, Lane D and
Harris AL: Increased expression of mutant forms of p53 oncogene in
primary lung cancer. Lancet. 335:675–679. 1990. View Article : Google Scholar : PubMed/NCBI
|
|
28
|
Khan SA, Davidson BR, Goldin R, Pereira
SP, Rosenberg WM, Taylor-Robinson SD, Thillainayagam AV, Thomas HC,
Thursz MR and Wasan H: British Society of Gastroenterology:
Guidelines for the diagnosis and treatment of cholangiocarcinoma:
Consensus document. Gut. 51 Suppl 6:VI1–9. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
29
|
Sobin MG Leslie and Wittekind Christian:
International Union Against Cancer, ‘TNM Classification of
Malignant Tumours’. 7th. WILEY-BLACKWELL, Inc.; 2009
|
|
30
|
Samuels Y, Wang Z, Bardelli A, Silliman N,
Ptak J, Szabo S, Yan H, Gazdar A, Powell SM, Riggins GJ, et al:
High frequency of mutations of the PIK3CA gene in human cancers.
Science. 304:5542004. View Article : Google Scholar : PubMed/NCBI
|
|
31
|
Akagi K, Uchibori R, Yamaguchi K, Kurosawa
K, Tanaka Y and Kozu T: Characterization of a novel oncogenic K-ras
mutation in colon cancer. Biochem Biophys Res Commun. 352:728–732.
2007. View Article : Google Scholar : PubMed/NCBI
|
|
32
|
Tan IB, Malik S, Ramnarayanan K, McPherson
JR, Ho DL, Suzuki Y, Ng SB, Yan S, Lim KH, Koh D, et al: High-depth
sequencing of over 750 genes supports linear progression of primary
tumors and metastases in most patients with liver-limited
metastatic colorectal cancer. Genome Biol. 16:322015. View Article : Google Scholar : PubMed/NCBI
|
|
33
|
Paik PK, Shen R, Won H, Rekhtman N, Wang
L, Sima CS, Arora A, Seshan V, Ladanyi M, Berger MF and Kris MG:
Next-generation sequencing of stage iv squamous cell lung cancers
reveals an association of PI3K aberrations and evidence of clonal
heterogeneity in patients with brain metastases. Cancer Discov.
5:610–621. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
34
|
COSMIC_database_SMAD4_p.G352E. http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4806745
|
|
35
|
COSMIC_database_SMAD4_p.A532D. http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1389109
|
|
36
|
Simbolo M, Fassan M, Ruzzenente A,
Mafficini A, Wood LD, Corbo V, Melisi D, Malleo G, Vicentini C,
Malpeli G, et al: Multigene mutational profiling of
cholangiocarcinomas identifies actionable molecular subgroups.
Oncotarget. 5:2839–2852. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
37
|
Putra J, De Abreu FB, Peterson JD, Pipas
JM, Mody K, Amos CI, Tsongalis GJ and Suriawinata AA: Molecular
profiling of intrahepatic and extrahepatic cholangiocarcinoma using
next generation sequencing. Exp Mol Pathol. 99:240–244. 2015.
View Article : Google Scholar : PubMed/NCBI
|
|
38
|
Wang H, Zhou H, Liu A, Guo X and Yang CS:
Genetic analysis of colon tumors induced by a dietary carcinogen
PhIP in CYP1A humanized mice: Identification of mutation of
β-catenin/Ctnnb1 as the driver gene for the carcinogenesis. Mol
Carcinog. 54:1264–1274. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
39
|
Voss JS, Holtegaard LM, Kerr SE, Fritcher
EG, Roberts LR, Gores GJ, Zhang J, Highsmith WE, Halling KC and
Kipp BR: Molecular profiling of cholangiocarcinoma shows potential
for targeted therapy treatment decisions. Hum Pathol. 44:1216–1222.
2013. View Article : Google Scholar : PubMed/NCBI
|
|
40
|
Li M, Zhang Z, Li X, Ye J, Wu X, Tan Z,
Liu C, Shen B, Wang XA, Wu W, et al: Whole-exome and targeted gene
sequencing of gallbladder carcinoma identifies recurrent mutations
in the ErbB pathway. Nat Genet. 46:872–876. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
41
|
Ross JS, Wang K, Gay L, Al-Rohil R, Rand
JV, Jones DM, Lee HJ, Sheehan CE, Otto GA, Palmer G, et al: New
routes to targeted therapy of intrahepatic cholangiocarcinomas
revealed by next-generation sequencing. Oncologist. 19:235–242.
2014. View Article : Google Scholar : PubMed/NCBI
|
|
42
|
Brown KA, Pietenpol JA and Moses HL: A
tale of two proteins: Differential roles and regulation of Smad2
and Smad3 in TGF-beta signaling. J Cell Biochem. 101:9–33. 2007.
View Article : Google Scholar : PubMed/NCBI
|
|
43
|
Fleming NI, Jorissen RN, Mouradov D,
Christie M, Sakthianandeswaren A, Palmieri M, Day F, Li S, Tsui C,
Lipton L, et al: SMAD2, SMAD3 and SMAD4 mutations in colorectal
cancer. Cancer Res. 73:725–735. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
44
|
Gallione C, Aylsworth AS, Beis J, Berk T,
Bernhardt B, Clark RD, Clericuzio C, Danesino C, Drautz J, Fahl J,
et al: Overlapping spectra of SMAD4 mutations in juvenile polyposis
(JP) and JP-HHT syndrome. Am J Med Genet A. 152A:333–339. 2010.
View Article : Google Scholar : PubMed/NCBI
|
|
45
|
Shi Y, Hata A, Lo RS, Massagué J and
Pavletich NP: A structural basis for mutational inactivation of the
tumour suppressor Smad4. Nature. 388:87–93. 1997. View Article : Google Scholar : PubMed/NCBI
|
|
46
|
Kamb A, Gruis NA, Weaver-Feldhaus J, Liu
Q, Harshman K, Tavtigian SV, Stockert E, Day RS III, Johnson BE and
Skolnick MH: A cell cycle regulator potentially involved in genesis
of many tumor types. Science. 264:436–440. 1994. View Article : Google Scholar : PubMed/NCBI
|
|
47
|
Mori T, Miura K, Aoki T, Nishihira T, Mori
S and Nakamura Y: Frequent somatic mutation of the MTS1/CDK4I
(multiple tumor suppressor/cyclin-dependent kinase 4 inhibitor)
gene in esophageal squamous cell carcinoma. Cancer Res.
54:3396–3397. 1994.PubMed/NCBI
|
|
48
|
Caldas C, Hahn SA, da Costa LT, Redston
MS, Schutte M, Seymour AB, Weinstein CL, Hruban RH, Yeo CJ and Kern
SE: Frequent somatic mutations and homozygous deletions of the p16
(MTS1) gene in pancreatic adenocarcinoma. Nat Genet. 8:27–32. 1994.
View Article : Google Scholar : PubMed/NCBI
|
|
49
|
Nevins JR: The Rb/E2F pathway and cancer.
Hum Mol Genet. 10:699–703. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
50
|
Parwani AV, Geradts J, Caspers E,
Offerhaus GJ, Yeo CJ, Cameron JL, Klimstra DS, Maitra A, Hruban RH
and Argani P: Immunohistochemical and genetic analysis of non-small
cell and small cell gallbladder carcinoma and their precursor
lesions. Mod Pathol. 16:299–308. 2003. View Article : Google Scholar : PubMed/NCBI
|
|
51
|
McClendon AK, Dean JL, Rivadeneira DB, Yu
JE, Reed CA, Gao E, Farber JL, Force T, Koch WJ and Knudsen ES:
CDK4/6 inhibition antagonizes the cytotoxic response to
anthracycline therapy. Cell Cycle. 11:2747–2755. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
52
|
Young RJ, Waldeck K, Martin C, Foo JH,
Cameron DP, Kirby L, Do H, Mitchell C, Cullinane C, Liu W, et al:
Loss of CDKN2A expression is a frequent event in primary invasive
melanoma and correlates with sensitivity to the CDK4/6 inhibitor
PD0332991 in melanoma cell lines. Pigment Cell Melanoma Res.
27:590–600. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
53
|
Latif F, Tory K, Gnarra J, Yao M, Duh FM,
Orcutt ML, Stackhouse T, Kuzmin I, Modi W and Geil L:
Identification of the von Hippel-Lindau disease tumor suppressor
gene. Science. 260:1317–1320. 1993. View Article : Google Scholar : PubMed/NCBI
|
|
54
|
Kondo K, Yao M, Yoshida M, Kishida T,
Shuin T, Miura T, Moriyama M, Kobayashi K, Sakai N, Kaneko S, et
al: Comprehensive mutational analysis of the VHL gene in sporadic
renal cell carcinoma: Relationship to clinicopathological
parameters. Genes Chromosomes Cancer. 34:58–68. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
55
|
Brauch H, Weirich G, Brieger J, Glavac D,
Rödl H, Eichinger M, Feurer M, Weidt E, Puranakanitstha C, Neuhaus
C, et al: VHL alterations in human clear cell renal cell carcinoma:
Association with advanced tumor stage and a novel hot spot
mutation. Cancer Res. 60:1942–1948. 2000.PubMed/NCBI
|
|
56
|
Shi J, Liu H, Wang HL, Prichard JW and Lin
F: Diagnostic utility of von Hippel-Lindau gene product, maspin,
IMP3, and S100P in adenocarcinoma of the gallbladder. Hum Pathol.
44:503–511. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
57
|
Gossage L, Eisen T and Maher ER: VHL, the
story of a tumour suppressor gene. Nat Rev Cancer. 15:55–64. 2015.
View Article : Google Scholar : PubMed/NCBI
|
|
58
|
Penticuff JC and Kyprianou N: Therapeutic
challenges in renal cell carcinoma. Am J Clin Exp Urol. 3:77–90.
2015.PubMed/NCBI
|
