1
|
Kamel SG, Kau CH, Wong ME, Kennedy JW and
English JD: The role of Cone beam CT in the evaluation and
management of a family with Gardner's syndrome. J Craniomaxillofac
Surg. 37:461–468. 2009.PubMed/NCBI View Article : Google Scholar
|
2
|
Dinarvand P, Davaro EP, Doan JV, Ising ME,
Evans NR, Phillips NJ, Lai J and Guzman MA: Familial adenomatous
polyposis syndrome: An update and review of extraintestinal
manifestations. Arch Pathol Lab Med. 143:1382–1398. 2019.PubMed/NCBI View Article : Google Scholar
|
3
|
Gómez García EB and Knoers NV: Gardner's
syndrome (familial adenomatous polyposis): A cilia-related
disorder. Lancet Oncol. 10:727–735. 2009.PubMed/NCBI View Article : Google Scholar
|
4
|
Yu D, Ng Cw B, Zhu H, Liu J and Lin Y:
Bone and dental abnormalities as first signs of familial Gardner's
syndrome in a Chinese family: A literature review and a case
report. Med Sci (Paris) null:. 34:20–25. 2018.PubMed/NCBI View Article : Google Scholar
|
5
|
Adisen MZ, Okkesim A and Misirlioglu M:
The importance of early diagnosis of Gardner's syndrome in dental
examination. Niger J Clin Pract. 21:114–116. 2018.PubMed/NCBI View Article : Google Scholar
|
6
|
de Oliveira JC, Viana DV, Zanardo C,
Santos EMM, de Paula AE, Palmero EI and Rossi BM:
Genotype-phenotype correlation in 99 familial adenomatous polyposis
patients: A prospective prevention protocol. Cancer Med.
8:2114–2122. 2019.PubMed/NCBI View Article : Google Scholar
|
7
|
Yachida T, Nakajima T, Nonaka S, Nakamura
K, Suzuki H, Yoshinaga S, Oda I, Moriya Y, Masaki T and Saito Y:
Characteristics and clinical outcomes of duodenal neoplasia in
Japanese patients with familial adenomatous polyposis. J Clin
Gastroenterol. 51:407–411. 2017.PubMed/NCBI View Article : Google Scholar
|
8
|
Basaran G and Erkan M: One of the rarest
syndromes in dentistry: Gardner syndrome. Eur J Dent. 2:208–212.
2008.PubMed/NCBI
|
9
|
Half E, Bercovich D and Rozen P: Familial
adenomatous polyposis. Orphanet J Rare Dis. 4(22)2009.PubMed/NCBI View Article : Google Scholar
|
10
|
Juhn E and Khachemoune A: Gardner
syndrome: Skin manifestations, differential diagnosis and
management. Am J Clin Dermatol. 11:117–122. 2010.PubMed/NCBI View Article : Google Scholar
|
11
|
Galiatsatos P and Foulkes WD: Familial
adenomatous polyposis. Am J Gastroenterol. 101:385–398.
2006.PubMed/NCBI View Article : Google Scholar
|
12
|
Wallis YL, Macdonald F, Hultén M, Morton
JE, McKeown CM, Neoptolemos JP, Keighley M and Morton DG:
Genotype-phenotype correlation between position of constitutional
APC gene mutation and CHRPE expression in familial adenomatous
polyposis. Hum Genet. 94:543–548. 1994.PubMed/NCBI View Article : Google Scholar
|
13
|
Davies DR, Armstrong JG, Thakker N, Horner
K, Guy SP, Clancy T, Sloan P, Blair V, Dodd C, Warnes TW, et al:
Severe Gardner syndrome in families with mutations restricted to a
specific region of the APC gene. Am J Hum Genet. 57:1151–1158.
1995.PubMed/NCBI
|
14
|
Nieuwenhuis MH and Vasen HFA: Correlations
between mutation site in APC and phenotype of familial adenomatous
polyposis (FAP): A review of the literature. Crit Rev Oncol
Hematol. 61:153–161. 2007.PubMed/NCBI View Article : Google Scholar
|
15
|
Bisgaard ML, Fenger K, Bülow S, Niebuhr E
and Mohr J: Familial adenomatous polyposis (FAP): Frequency,
penetrance, and mutation rate. Hum Mutat. 3:121–125.
1994.PubMed/NCBI View Article : Google Scholar
|
16
|
Rozen P, Samuel Z, Rabau M, Goldman G,
Shomrat R, Legum C and Orr-Urtreger A: Familial adenomatous
polyposis at the Aviv Medical Center: Demographic and clinical
features. Fam Cancer. 1:75–82. 2001.PubMed/NCBI View Article : Google Scholar
|
17
|
Aretz S, Stienen D, Friedrichs N, Stemmler
S, Uhlhaas S, Rahner N, Propping P and Friedl W: Somatic APC
mosaicism: A frequent cause of familial adenomatous polyposis
(FAP). Hum Mutat. 28:985–992. 2007.PubMed/NCBI View Article : Google Scholar
|
18
|
Guo Y, Wang L, Ma R, Mu Q, Yu N, Zhang Y,
Tang Y, Li Y, Jiang G, Zhao D, et al: JiangTang XiaoKe granule
attenuates cathepsin K expression and improves IGF-1 expression in
the bone of high fat diet induced KK-Ay diabetic mice. Life Sci.
148:24–30. 2016.PubMed/NCBI View Article : Google Scholar
|
19
|
Sambrook J, Fritsch EF and Maniatis T:
Molecular Cloning: A Laboratory Manual. 2nd edition. Cold Spring
Harbor Laboratory Press, Plainview, NY, ppE3-E15, 1989.
|
20
|
Livak KJ and Schmittgen TD: Analysis of
relative gene expression data using real-time quantitative PCR and
the 2(-Delta Delta C(T)) method. Methods. 25:402–408.
2001.PubMed/NCBI View Article : Google Scholar
|
21
|
Schwab AL, Tuohy TM, Condie M, Neklason DW
and Burt RW: Gonadal mosaicism and familial adenomatous polyposis.
Fam Cancer. 7:173–177. 2008.PubMed/NCBI View Article : Google Scholar
|
22
|
Kaufmann A, Vogt S, Uhlhaas S, Stienen D,
Kurth I, Hameister H, Mangold E, Kötting J, Kaminsky E, Propping P,
et al: Analysis of rare APC variants at the mRNA level: Six
pathogenic mutations and literature review. J Mol Diagn.
11:131–139. 2009.PubMed/NCBI View Article : Google Scholar
|
23
|
De Rosa M, Scarano MI, Panariello L,
Morelli G, Riegler G, Rossi GB, Tempesta A, Romano G, Renda A,
Pettinato G, et al: The mutation spectrum of the APC gene in FAP
patients from southern Italy: Detection of known and four novel
mutations. Hum Mutat. 21:655–656. 2003.PubMed/NCBI View Article : Google Scholar
|
24
|
Castellsagué E, González S, Guinó E,
Stevens KN, Borràs E, Raymond VM, Lázaro C, Blanco I, Gruber SB and
Capellá G: Allele-specific expression of APC in adenomatous
polyposis families. Gastroenterology. 139:439–447, 447.e1.
2010.PubMed/NCBI View Article : Google Scholar
|
25
|
Richards S, Aziz N, Bale S, Bick D, Das S,
Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al: ACMG
Laboratory Quality Assurance Committee: Standards and guidelines
for the interpretation of sequence variants: A joint consensus
recommendation of the American College of Medical Genetics and
Genomics and the Association for Molecular Pathology. Genet Med.
17:405–424. 2015.PubMed/NCBI View Article : Google Scholar
|
26
|
Nozoe T, Rikimaru T, Mori E, Okuyama T and
Takahashi I: Increase in both CEA and CA19-9 in sera is an
independent prognostic indicator in colorectal carcinoma. J Surg
Oncol. 94:132–137. 2006.PubMed/NCBI View Article : Google Scholar
|
27
|
Lech G, Słotwiński R, Słodkowski M and
Krasnodębski IW: Colorectal cancer tumour markers and biomarkers:
Recent therapeutic advances. World J Gastroenterol. 22:1745–1755.
2016.PubMed/NCBI View Article : Google Scholar
|
28
|
Wang J, Wang X, Yu F, Chen J, Zhao S,
Zhang D, Yu Y, Liu X, Tang H and Peng Z: Combined detection of
preoperative serum CEA, CA19-9 and CA242 improve prognostic
prediction of surgically treated colorectal cancer patients. Int J
Clin Exp Pathol. 8:14853–14863. 2015.PubMed/NCBI
|
29
|
Out AA, van Minderhout IJ, van der Stoep
N, van Bommel LS, Kluijt I, Aalfs C, Voorendt M, Vossen RH, Nielsen
M, Vasen HF, et al: High-resolution melting (HRM) re-analysis of a
polyposis patients cohort reveals previously undetected
heterozygous and mosaic APC gene mutations. Fam Cancer. 14:247–257.
2015.PubMed/NCBI View Article : Google Scholar
|
30
|
Tuohy TM and Burt RW: Somatic mosaicism: A
cause for unexplained cases of FAP? Gut. 57:10–12. 2008.PubMed/NCBI View Article : Google Scholar
|
31
|
Filipe B, Albuquerque C, Bik E, Lage P,
Rodrigues P, Vossen R, Tops C and Nobre Leitão C: APC somatic
mosaicism in a patient with Gardner syndrome carrying the E1573X
mutation: Report of a case. Dis Colon Rectum. 52:1516–1521.
2009.PubMed/NCBI View Article : Google Scholar
|
32
|
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.PubMed/NCBI View Article : Google Scholar
|
33
|
Necker J, Kovac M, Attenhofer M, Reichlin
B and Heinimann K: Detection of APC germ line mosaicism in patients
with de novo familial adenomatous polyposis: A plea for the protein
truncation test. J Med Genet. 48:526–529. 2011.PubMed/NCBI View Article : Google Scholar
|
34
|
Urbanova M, Hirschfeldova K, Obeidova L,
Janosikova B, Lastuvkova J, Lukas M, Kotlas J and Stekrova J: Two
Czech patients with familial adenomatous polyposis presenting
mosaicism in APC gene. Neoplasma. 66:294–300. 2019.PubMed/NCBI View Article : Google Scholar
|
35
|
Kanter-Smoler G, Fritzell K, Rohlin A,
Engwall Y, Hallberg B, Bergman A, Meuller J, Grönberg H, Karlsson
P, Björk J, et al: Clinical characterization and the mutation
spectrum in Swedish adenomatous polyposis families. BMC Med.
6(10)2008.PubMed/NCBI View Article : Google Scholar
|
36
|
Short E and Sampson J: The role of
inherited genetic variants in colorectal polyposis syndromes. Adv
Genet. 103:183–217. 2019.PubMed/NCBI View Article : Google Scholar
|
37
|
Spinner NB and Conlin LK: Mosaicism and
clinical genetics. Am J Med Genet C Semin Med Genet. 166C:397–405.
2014.PubMed/NCBI View Article : Google Scholar
|