|
1
|
Chen W, Zheng R, Baade PD, Zhang S, Zeng
H, Bray F, Jemal A, Yu XQ and He J: Cancer statistics in China,
2015. CA Cancer J Clin. 66:115–132. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Brody H: Colorectal cancer. Nature. 521
(Suppl):S12015. View
Article : Google Scholar : PubMed/NCBI
|
|
3
|
Ng SC and Wong SH: Colorectal cancer
screening in Asia. Br Med Bull. 105:29–42. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Labianca R, Nordlinger B, Beretta GD,
Mosconi S, Mandalà M, Cervantes A and Arnold D; ESMO Guidelines
Working Group, : Early colon cancer: ESMO Clinical Practice
Guidelines for diagnosis, treatment and follow-up. Ann Oncol. 6
(Suppl):vi64–vi72. 2013.
|
|
5
|
Lutgens MW, Oldenburg B, Siersema PD, van
Bodegraven AA, Dijkstra G, Hommes DW, de Jong DJ, Stokkers PC, van
der Woude CJ and Vleggaar FP: Colonoscopic surveillance improves
survival after colorectal cancer diagnosis in inflammatory bowel
disease. Br J Cancer. 101:1671–1675. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Lansdorp-Vogelaar I, van Ballegooijen M,
Zauber AG, Habbema JD and Kuipers EJ: Effect of rising chemotherapy
costs on the cost savings of colorectal cancer screening. J Natl
Cancer Inst. 101:1412–1422. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Beamer LC, Grant ML, Espenschied CR,
Blazer KR, Hampel HL, Weitzel JN and MacDonald DJ: Reflex
immunohistochemistry and microsatellite instability testing of
colorectal tumors for Lynch syndrome among US cancer programs and
follow-up of abnormal results. J Clin Oncol. 30:1058–1063. 2012.
View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Burt RW: Who should have genetic testing
for the Lynch syndrome? Ann Intern Med. 155:127–128. 2011.
View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Matloff J, Lucas A, Polydorides AD and
Itzkowitz SH: Molecular tumor testing for Lynch syndrome in
patients with colorectal cancer. J Natl Compr Canc Netw.
11:1380–1385. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Ward RL, Hicks S and Hawkins NJ:
Population-based molecular screening for Lynch syndrome:
Implications for personalized medicine. J Clin Oncol. 31:2554–2562.
2013. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Broustas CG and Lieberman HB: DNA damage
response genes and the development of cancer metastasis. Radiat
Res. 181:111–130. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Spies M and Fishel R: Mismatch repair
during homologous and homeologous recombination. Cold Spring Harb
Perspect Biol. 7:a0226572015. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Vilar E and Gruber SB: Microsatellite
instability in colorectal cancer-the stable evidence. Nat Rev Clin
Oncol. 7:153–162. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Vilar E and Tabernero J: Molecular
dissection of microsatellite instable colorectal cancer. Cancer
Discov. 3:502–511. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Ribic CM, Sargent DJ, Moore MJ, Thibodeau
SN, French AJ, Goldberg RM, Hamilton SR, Laurent-Puig P, Gryfe R,
Shepherd LE, et al: Tumor microsatellite-instability status as a
predictor of benefit from fluorouracil-based adjuvant chemotherapy
for colon cancer. N Engl J Med. 349:247–257. 2003. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Dudley JC, Lin MT, Le DT and Eshleman JR:
Microsatellite Instability as a Biomarker for PD-1 Blockade. Clin
Cancer Res. 22:813–820. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Kastrinos F and Stoffel EM: The history,
genetics, and strategies for cancer prevention in Lynch syndrome.
Clin Gastroenterol Hepatol. 12:715–727.e41-e43. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Lynch HT and de la Chapelle A: Genetic
susceptibility to non-polyposis colorectal cancer. J Med Genet.
36:801–818. 1999.PubMed/NCBI
|
|
19
|
Herman JG, Umar A, Polyak K, Graff JR,
Ahuja N, Issa JP, Markowitz S, Willson JK, Hamilton SR, Kinzler KW,
et al: Incidence and functional consequences of hMLH1 promoter
hypermethylation in colorectal carcinoma. Proc Natl Acad Sci USA.
95:6870–6875. 1998. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Veigl ML, Kasturi L, Olechnowicz J, Ma AH,
Lutterbaugh JD, Periyasamy S, Li GM, Drummond J, Modrich PL,
Sedwick WD and Markowitz SD: Biallelic inactivation of hMLH1 by
epigenetic gene silencing, a novel mechanism causing human MSI
cancers. Proc Natl Acad Sci USA. 95:8698–8702. 1998. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Wang YC, Lu YP, Tseng RC, Lin RK, Chang
JW, Chen JT, Shih CM and Chen CY: Inactivation of hMLH1 and hMSH2
by promoter methylation in primary non-small cell lung tumors and
matched sputum samples. J Clin Invest. 111:887–895. 2003.
View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Hsu HS, Wen CK, Tang YA, Lin RK, Li WY,
Hsu WH and Wang YC: Promoter hypermethylation is the predominant
mechanism in hMLH1 and hMSH2 deregulation and is a poor prognostic
factor in nonsmoking lung cancer. Clin Cancer Res. 11:5410–5416.
2005. View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Yurgelun MB, Allen B, Kaldate RR, Bowles
KR, Judkins T, Kaushik P, Roa BB, Wenstrup RJ, Hartman AR and
Syngal S: Identification of a variety of mutations in cancer
predisposition genes in patients with suspected lynch syndrome.
Gastroenterology. 149:604–613.e20. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Pearlman R, Frankel WL, Swanson B, Zhao W,
Yilmaz A, Miller K, Bacher J, Bigley C, Nelsen L, Goodfellow PJ, et
al: Prevalence and spectrum of germline cancer susceptibility gene
mutations among patients with early-onset colorectal cancer. JAMA
Oncol. 3:464–471. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
25
|
Antoniou AC, Casadei S, Heikkinen T,
Barrowdale D, Pylkäs K, Roberts J, Lee A, Subramanian D, De Leeneer
K, Fostira F, et al: Breast-cancer risk in families with mutations
in PALB2. N Engl J Med. 371:497–506. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
26
|
Thompson D, Duedal S, Kirner J, McGuffog
L, Last J, Reiman A, Byrd P, Taylor M and Easton DF: Cancer risks
and mortality in heterozygous ATM mutation carriers. J Natl Cancer
Inst. 97:813–822. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
27
|
Konstantinopoulos PA, Ceccaldi R, Shapiro
GI and D'Andrea AD: Homologous recombination deficiency: Exploiting
the fundamental vulnerability of ovarian cancer. Cancer Discov.
5:1137–1154. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
28
|
da Cunha Colombo Bonadio RR, Fogace RN,
Miranda VC and Diz MDPE: Homologous recombination deficiency in
ovarian cancer: A review of its epidemiology and management.
Clinics (Sao Paulo). 73 (Suppl 1):e450s2018.PubMed/NCBI
|
|
29
|
Chao EC and Lipkin SM: Molecular models
for the tissue specificity of DNA mismatch repair-deficient
carcinogenesis. Nucleic Acids Res. 34:840–852. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
30
|
Gentles L, Goranov B, Matheson E, Herriott
A, Kaufmann A, Hall S, Mukhopadhyay A, Drew Y, Curtin NJ and
O'Donnell RL: Exploring the frequency of homologous recombination
DNA repair dysfunction in multiple cancer types. Cancers (Basel).
11(pii): E3542019. View Article : Google Scholar : PubMed/NCBI
|
|
31
|
Cerbinskaite A, Mukhopadhyay A, Plummer
ER, Curtin NJ and Edmondson RJ: Defective homologous recombination
in human cancers. Cancer Treat Rev. 38:89–100. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
32
|
Miranda E, Destro A, Malesci A, Balladore
E, Bianchi P, Baryshnikova E, Franchi G, Morenghi E, Laghi L,
Gennari L and Roncalli M: Genetic and epigenetic changes in primary
metastatic and nonmetastatic colorectal cancer. Br J Cancer.
95:1101–1107. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
33
|
Malapelle U, Mayo de-Las-Casas C, Rocco D,
Garzon M, Pisapia P, Jordana-Ariza N, Russo M, Sgariglia R, De Luca
C, Pepe F, et al: Development of a gene panel for next-generation
sequencing of clinically relevant mutations in cell-free DNA from
cancer patients. Br J Cancer. 116:802–810. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
34
|
Li H and Durbin R: Fast and accurate short
read alignment with Burrows-Wheeler transform. Bioinformatics.
25:1754–1760. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
35
|
McKenna A, Hanna M, Banks E, Sivachenko A,
Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly
M and DePristo MA: The genome analysis toolkit: A MapReduce
framework for analyzing next-generation DNA sequencing data. Genome
Res. 20:1297–1303. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
36
|
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
|
|
37
|
Sherry ST, Ward MH, Kholodov M, Baker J,
Phan L, Smigielski EM and Sirotkin K: dbSNP: The NCBI database of
genetic variation. Nucleic Acids Res. 29:308–311. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
38
|
Siegel RL, Miller KD and Jemal A: Cancer
statistics, 2015. CA Cancer J Clin. 65:5–29. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
39
|
Vucic EA, Thu KL, Robison K, Rybaczyk LA,
Chari R, Alvarez CE and Lam WL: Translating cancer ‘omics’ to
improved outcomes. Genome Res. 22:188–195. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
40
|
Le DT, Durham JN, Smith KN, Wang H,
Bartlett BR, Aulakh LK, Lu S, Kemberling H, Wilt C, Luber BS, et
al: Mismatch-repair deficiency predicts response of solid tumors to
PD-1 blockade. Science. 357:409–413. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
41
|
Copija A, Waniczek D, Witkos A, Walkiewicz
K and Nowakowska-Zajdel E: Clinical significance and prognostic
relevance of microsatellite instability in sporadic colorectal
cancer patients. Int J Mol Sci. 18(pii): E1072017. View Article : Google Scholar : PubMed/NCBI
|
|
42
|
Kaplan KB, Burds AA, Swedlow JR, Bekir SS,
Sorger PK and Näthke IS: A role for the adenomatous polyposis Coli
protein in chromosome segregation. Nat Cell Biol. 3:429–432. 2001.
View Article : Google Scholar : PubMed/NCBI
|
|
43
|
Leoz ML, Carballal S, Moreira L, Ocana T
and Balaguer F: The genetic basis of familial adenomatous polyposis
and its implications for clinical practice and risk management.
Appl Clin Genet. 8:95–107. 2015.PubMed/NCBI
|
|
44
|
Krausova M and Korinek V: Wnt signaling in
adult intestinal stem cells and cancer. Cell Signal. 26:570–579.
2014. View Article : Google Scholar : PubMed/NCBI
|
|
45
|
Witkiewicz AK, McMillan EA, Balaji U, Baek
G, Lin WC, Mansour J, Mollaee M, Wagner KU, Koduru P, Yopp A, et
al: Whole-exome sequencing of pancreatic cancer defines genetic
diversity and therapeutic targets. Nat Commun. 6:67442015.
View Article : Google Scholar : PubMed/NCBI
|
