1 |
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.
25
6
|
Li J...Chenevix-Trench G
|
27087319 |
2016 |
2 |
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a new autosomal dominant syndrome.
6
25
|
Worthley DL...Suthers GK
|
21813476 |
2012 |
3 |
Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9.
25
6
|
Rozen P...Legum C
|
10562580 |
1999 |
4 |
Attenuated familial adenomatous polyposis in a man with an interstitial deletion of chromosome arm 5q.
6
25
|
Pilarski RT...Shulman Rosengren S
|
10494086 |
1999 |
5 |
Germline mutations in the 3' part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli.
6
25
|
van der Luijt RB...Fodde R
|
8931709 |
1996 |
6 |
Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP.
6
|
Lagarde A...Olschwang S
|
20685668 |
2010 |
7 |
Founder mutation in familial adenomatous polyposis (FAP) in the Balearic Islands.
6
|
Gonzalez S...Capella G
|
15771908 |
2005 |
8 |
Different familial adenomatous polyposis phenotypes resulting from deletions of the entire APC exon 15.
6
|
Su LK...Lynch PM
|
12136240 |
2002 |
9 |
Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q.
6
|
Lamlum H...Tomlinson I
|
11001924 |
2000 |
10 |
The identical 5' splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect.
6
|
Spirio L...Leppert M
|
10598803 |
1999 |
11 |
Familial adenomatous polyposis-associated thyroid cancer: a clinical, pathological, and molecular genetics study.
6
|
Soravia C...Bapat BV
|
9916927 |
1999 |
12 |
Congenital cholesteatoma in a child carrying a gene mutation for adenomatous polyposis coli.
6
|
Shaoul R...Durie P
|
9890479 |
1999 |
13 |
Alleles of APC modulate the frequency and classes of mutations that lead to colon polyps.
6
|
Spirio LN...White R
|
9843214 |
1998 |
14 |
The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.
6
|
Frayling IM...Tomlinson IP
|
9724771 |
1998 |
15 |
A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9.
6
|
Young J...Leggett B
|
9603437 |
1998 |
16 |
Transcript dosage effect in familial adenomatous polyposis: model offered by two kindreds with exon 9 APC gene mutations.
6
|
Curia MC...Cama A
|
9521420 |
1998 |
17 |
An unusually severe phenotype for familial adenomatous polyposis.
6
|
Eccles DM...Macdonald F
|
9487968 |
1997 |
18 |
Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study.
6
|
Distante S...Gardner RJ
|
8929955 |
1996 |
19 |
Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes.
6
|
Scott RJ...Brazzola PL
|
7797123 |
1995 |
20 |
Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli.
6
|
Gayther SA...Delhanty JD
|
8162051 |
1994 |
21 |
A novel mutation at the splice junction of exon 9 of the APC gene in familial adenomatous polyposis.
6
|
Cama A...Tonelli F
|
8019566 |
1994 |
22 |
Identification of somatic APC gene mutations in periampullary adenomas in a patient with familial adenomatous polyposis (FAP).
6
|
Bapat B...Gallinger S
|
8281160 |
1993 |
23 |
Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis.
6
|
Fodde R...Khan PM
|
1324223 |
1992 |
24 |
The first European family with gastric adenocarcinoma and proximal polyposis of the stomach: case report and review of the literature.
25
|
Repak R...Bures J
|
27343414 |
2016 |
25 |
Genetic/Familial High-Risk Assessment: Colorectal Version 1.2016, NCCN Clinical Practice Guidelines in Oncology.
25
|
Provenzale D...Darlow S
|
27496117 |
2016 |
26 |
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
25
|
Adam R...Aretz S
|
27476653 |
2016 |
27 |
Effect of Sulindac and Erlotinib vs Placebo on Duodenal Neoplasia in Familial Adenomatous Polyposis: A Randomized Clinical Trial.
25
|
Samadder NJ...Kuwada SK
|
27002448 |
2016 |
28 |
Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases.
25
|
Spier I...Aretz S
|
26613750 |
2016 |
29 |
The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes.
25
|
Smith MJ...Evans DG
|
26615784 |
2016 |
30 |
An international randomised trial of celecoxib versus celecoxib plus difluoromethylornithine in patients with familial adenomatous polyposis.
25
|
Lynch PM...Hawk E
|
25792707 |
2016 |
31 |
Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors.
25
|
Rivera B...Foulkes WD
|
26559593 |
2015 |
32 |
Cribriform-morular variant of papillary thyroid carcinoma.
25
|
Pradhan D...Mohanty SK
|
26293799 |
2015 |
33 |
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.
25
|
Weren RD...Hoogerbrugge N
|
25938944 |
2015 |
34 |
Hereditary colorectal cancer syndromes: American Society of Clinical Oncology clinical practice guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology clinical practice guidelines.
25
|
Stoffel EM...European Society for Medical Oncology
|
25829526 |
2015 |
35 |
Desmoids and genotype in familial adenomatous polyposis.
25
|
Church J...Kalady M
|
25751801 |
2015 |
36 |
APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes.
25
|
Quadri M...Ranzani GN
|
25159889 |
2015 |
37 |
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
25
|
Syngal S...American College of Gastroenterology
|
25645574 |
2015 |
38 |
FAP Associated Papillary Thyroid Carcinoma: A Peculiar Subtype of Familial Nonmedullary Thyroid Cancer.
25
|
Cetta F
|
26697262 |
2015 |
39 |
Therapy-associated polyposis as a late sequela of cancer treatment.
25
|
Yurgelun MB...Syngal S
|
24362051 |
2014 |
40 |
Wnt signaling in adult intestinal stem cells and cancer.
25
|
Krausova M...Korinek V
|
24308963 |
2014 |
41 |
Preventive effects of low-dose aspirin on colorectal adenoma growth in patients with familial adenomatous polyposis: double-blind, randomized clinical trial.
25
|
Ishikawa H...Sakai T
|
24133627 |
2013 |
42 |
The prevalence of thyroid cancer and benign thyroid disease in patients with familial adenomatous polyposis may be higher than previously recognized.
25
|
Steinhagen E...Markowitz AJ
|
22425061 |
2012 |
43 |
Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1.
25
|
Jaeger E...Tomlinson I
|
22561515 |
2012 |
44 |
Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis.
25
|
Rohlin A...Nordling M
|
21643010 |
2011 |
45 |
Risk factors predicting desmoid occurrence in patients with familial adenomatous polyposis: a meta-analysis.
25
|
Sinha A...Clark SK
|
20528895 |
2011 |
46 |
Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin.
25
|
Jasperson KW...Burt RW
|
21039432 |
2011 |
47 |
A nation-wide study comparing sporadic and familial adenomatous polyposis-related desmoid-type fibromatoses.
25
|
Nieuwenhuis MH...Vasen HF
|
20830713 |
2011 |
48 |
A randomized placebo-controlled prevention trial of aspirin and/or resistant starch in young people with familial adenomatous polyposis.
25
|
Burn J...International CAPP consortium
|
21543343 |
2011 |
49 |
Screening for thyroid cancer in patients with familial adenomatous polyposis.
25
|
Jarrar AM...Church JM
|
21173694 |
2011 |
50 |
Defining phenotypes and cancer risk in hyperplastic polyposis syndrome.
25
|
Kalady MF...Church JM
|
21228663 |
2011 |