|
1
|
Grover S, Kastrinos F, Steyerberg EW, Cook
EF, Dewanwala A, Burbidge LA, Wenstrup RJ and Syngal S: Prevalence
and phenotypes of APC and MUTYH mutations in patients with multiple
colorectal adenomas. JAMA. 308:485–492. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Brensinger JD, Laken SJ, Luce MC, Powell
SM, Vance GH, Ahnen DJ, Petersen GM, Hamilton SR and Giardiello FM:
Variable phenotype of familial adenomatous polyposis in pedigrees
with 3′ mutation in the APC gene. Gut. 43:548–552. 1998. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Spier I, Holzapfel S, Altmüller J, Zhao B,
Horpaopan S, Vogt S, Chen S, Morak M, Raeder S, Kayser K, et al:
Frequency and phenotypic spectrum of germline mutations in POLE and
seven other polymerase genes in 266 patients with colorectal
adenomas and carcinomas. Int J Cancer. 137:320–331. 2015.
View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Palles C, Cazier JB, Howarth KM, Domingo
E, Jones AM, Broderick P, Kemp Z, Spain SL, Guarino E, Salguero I,
et al: Germline mutations affecting the proofreading domains of
POLE and POLD1 predispose to colorectal adenomas and carcinomas.
Nat Genet. 45:136–144. 2013. View
Article : Google Scholar : PubMed/NCBI
|
|
5
|
Pursell ZF, Isoz I, Lundström EB,
Johansson E and Kunkel TA: Yeast DNA polymerase epsilon
participates in leading-strand DNA replication. Science.
317:127–130. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Bellacosa A: Functional interactions and
signaling properties of mammalian DNA mismatch repair proteins.
Cell Death Differ. 8:1076–1092. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Weren RD, Ligtenberg MJ, Kets CM, de Voer
RM, Verwiel ET, Spruijt L, van Zelst-Stams WA, Jongmans MC,
Gilissen C, Hehir-Kwa JY, et al: A germline homozygous mutation in
the base-excision repair gene NTHL1 causes adenomatous polyposis
and colorectal cancer. Nat Genet. 47:668–671. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Adam R, Spier I, Zhao B, Kloth M, Marquez
J, Hinrichsen I, Kirfel J, Tafazzoli A, Horpaopan S, Uhlhaas S, et
al: Exome sequencing identifies biallelic MSH3 germline mutations
as a recessive subtype of colorectal adenomatous polyposis. Am J
Hum Genet. 99:337–351. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Horpaopan S, Spier I, Zink AM, Altmüller
J, Holzapfel S, Laner A, Vogt S, Uhlhaas S, Heilmann S, Stienen D,
et al: Genome-wide CNV analysis in 221 unrelated patients and
targeted high-throughput sequencing reveal novel causative
candidate genes for colorectal adenomatous polyposis. Int J Cancer.
136:E578–E589. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Weren RD, Venkatachalam R, Cazier JB,
Farin HF, Kets CM, de Voer RM, Vreede L, Verwiel ET, van Asseldonk
M, Kamping EJ, et al: Germline deletions in the tumour suppressor
gene FOCAD are associated with polyposis and colorectal cancer
development. J Pathol. 236:155–164. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Spier I, Kerick M, Drichel D, Horpaopan S,
Altmüller J, Laner A, Holzapfel S, Peters S, Adam R, Zhao B, et al:
Exome sequencing identifies potential novel candidate genes in
patients with unexplained colorectal adenomatous polyposis. Fam
Cancer. 15:281–288. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Hendrich B, Hardeland U, Ng HH, Jiricny J
and Bird A: The thymine glycosylase MBD4 can bind to the product of
deamination at methylated CpG sites. Nature. 401:301–304. 1999.
View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Sobin LH, Gospodarowicz MK and Wittekind
Ch: Digestive system tumours, colon and rectum. TNM Classification
of Malignant Tumors. 7th. Wiley-Blackwell; Hoboken, NJ: pp.
100–105. 2009
|
|
14
|
Kohda M, Kumamoto K, Eguchi H, Hirata T,
Tada Y, Tanakaya K, Akagi K, Takenoshita S, Iwama T, Ishida H and
Okazaki Y: Rapid detection of germline mutations for hereditary
gastrointestinal polyposis/cancers using HaloPlex target enrichment
and high-throughput sequencing technologies. Fam Cancer.
15:553–562. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
15
|
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
|
|
16
|
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
|
|
17
|
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
|
|
18
|
Gehring JS, Fischer B, Lawrence M and
Huber W: SomaticSignatures: Inferring mutational signatures from
single-nucleotide variants. Bioinformatics. 31:3673–3675.
2015.PubMed/NCBI
|
|
19
|
Team RC: R, . A language and environment
for statistical computing. R foundation for statistical computing;
Vienna, Austria: https://cran.r-project.org/src/base/R-3/
|
|
20
|
Yamaguchi-Kabata Y, Nariai N, Kawai Y,
Sato Y, Kojima K, Tateno M, Katsuoka F, Yasuda J, Yamamoto M and
Nagasaki M: iJGVD: An integrative Japanese genome variation
database based on whole-genome sequencing. Hum Genome Var.
2:150502015. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Tricarico R, Cortellino S, Riccio A,
Jagmohan-Changur S, Van der Klift H, Wijnen J, Turner D, Ventura A,
Rovella V, Percesepe A, et al: Involvement of MBD4 inactivation in
mismatch repair-deficient tumorigenesis. Oncotarget. 6:42892–42904.
2015. View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Wu P, Qiu C, Sohail A, Zhang X, Bhagwat AS
and Cheng X: Mismatch repair in methylated DNA. Structure and
activity of the mismatch-specific thymine glycosylase domain of
methyl-CpG-binding protein MBD4. J Biol Chem. 278:5285–5291. 2003.
View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Bellacosa A, Cicchillitti L, Schepis F,
Riccio A, Yeung AT, Matsumoto Y, Golemis EA, Genuardi M and Neri G:
MED1, a novel human methyl-CpG-binding endonuclease, interacts with
DNA mismatch repair protein MLH1. Proc Natl Acad Sci USA.
96:3969–3974. 1999. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Bader S, Walker M and Harrison D: Most
microsatellite unstable sporadic colorectal carcinomas carry MBD4
mutations. Br J Cancer. 83:1646–1649. 2000. View Article : Google Scholar : PubMed/NCBI
|
|
25
|
Bader S, Walker M, Hendrich B, Bird A,
Bird C, Hooper M and Wyllie A: Somatic frameshift mutations in the
MBD4 gene of sporadic colon cancers with mismatch repair
deficiency. Oncogene. 18:8044–8047. 1999. View Article : Google Scholar : PubMed/NCBI
|
|
26
|
Evertson S, Wallin A, Arbman G, Rütten S,
Emterling A, Zhang H and Sun XF: Microsatellite instability and
MBD4 mutation in unselected colorectal cancer. Anticancer Res.
23:3569–3574. 2003.PubMed/NCBI
|
|
27
|
Riccio A, Aaltonen LA, Godwin AK, Loukola
A, Percesepe A, Salovaara R, Masciullo V, Genuardi M,
Paravatou-Petsotas M, Bassi DE, et al: The DNA repair gene MBD4
(MED1) is mutated in human carcinomas with microsatellite
instability. Nat Genet. 23:266–268. 1999. View Article : Google Scholar : PubMed/NCBI
|
|
28
|
Bader SA, Walker M and Harrison DJ: A
human cancer-associated truncation of MBD4 causes dominant negative
impairment of DNA repair in colon cancer cells. Br J Cancer.
96:660–666. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
29
|
Millar CB, Guy J, Sansom OJ, Selfridge J,
MacDougall E, Hendrich B, Keightley PD, Bishop SM, Clarke AR and
Bird A: Enhanced CpG mutability and tumorigenesis in MBD4-deficient
mice. Science. 297:403–405. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
30
|
Wong E, Yang K, Kuraguchi M, Werling U,
Avdievich E, Fan K, Fazzari M, Jin B, Brown AM, Lipkin M and
Edelmann W: Mbd4 inactivation increases Cright-arrowT transition
mutations and promotes gastrointestinal tumor formation. Proc Natl
Acad Sci USA. 99:14937–14942. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
31
|
Hes FJ, Nielsen M, Bik EC, Konvalinka D,
Wijnen JT, Bakker E, Vasen HF, Breuning MH and Tops CM: Somatic APC
mosaicism: An underestimated cause of polyposis coli. Gut.
57:71–76. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
32
|
Alexandrov LB, Nik-Zainal S, Wedge DC,
Aparicio SA, Behjati S, Biankin AV, Bignell GR, Bolli N, Borg A,
Børresen-Dale AL, et al: Signatures of mutational processes in
human cancer. Nature. 500:415–421. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
33
|
Schmutte C, Yang AS, Beart RW and Jones
PA: Base excision repair of U:G mismatches at a mutational hotspot
in the p53 gene is more efficient than base excision repair of T:G
mismatches in extracts of human colon tumors. Cancer Res.
55:3742–3746. 1995.PubMed/NCBI
|
|
34
|
Kleihues P, Schäuble B, zur Hausen A,
Estève J and Ohgaki H: Tumors associated with p53 germline
mutations: A synopsis of 91 families. Am J Pathol. 150:1–13.
1997.PubMed/NCBI
|
|
35
|
Fearon ER and Vogelstein B: A genetic
model for colorectal tumorigenesis. Cell. 61:759–767. 1990.
View Article : Google Scholar : PubMed/NCBI
|
|
36
|
Kudo SE, Sugihara Y, Kida H, Ishida F,
Miyachi H, Mori Y, Misawa M, Hisayuki T, Kodama K, Wakamura K, et
al: Depressed-type colonic lesions and ‘De Novo’ cancer in familial
adenomatous polyposis: A colonoscopist's viewpoint. ISRN
Gastroenterol 2013. 8381342013.
|
|
37
|
Saito Y, Kanai Y, Sakamoto M, Saito H,
Ishii H and Hirohashi S: Expression of mRNA for DNA
methyltransferases and methyl-CpG-binding proteins and DNA
methylation status on CpG islands and pericentromeric satellite
regions during human hepatocarcinogenesis. Hepatology. 33:561–568.
2001. View Article : Google Scholar : PubMed/NCBI
|
|
38
|
Rodrigues M, Mobuchon L, Houy A, Fiévet A,
Gardrat S, Barnhill RL, Popova T, Servois V, Rampanou A, Mouton A,
et al: Outlier response to anti-PD1 in uveal melanoma reveals
germline MBD4 mutations in hypermutated tumors. Nat Commun.
9:18662018. View Article : Google Scholar : PubMed/NCBI
|
