|
Colorectal Carcinoma
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Our findings suggest that biallelic mutations in NTHL1 rarely cause CRC, a personal/familial multi-tumor history, or serrated polyposis, in absence of adenomas.
|
31227763 |
2019 |
|
Colorectal Carcinoma
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Biallelic germline mutations affecting NTHL1 predispose carriers to adenomatous polyposis and colorectal cancer, but the complete phenotype is unknown.
|
30753826 |
2019 |
|
Colorectal Carcinoma
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
We provide an overview of newly described genes and syndromes associated with predisposition to CRC and polyposis, including: polymerase proofreading-associated polyposis, NTHL1-associated polyposis, mismatch repair gene biallelic inactivation-related adenomatous polyposis (including MSH3- and MLH3-associated polyposes), GREM1-associated mixed polyposis, RNF43-associated serrated polyposis, and RPS20 mutations as a rare cause of hereditary nonpolyposis CRC.
|
30862463 |
2019 |
|
Colorectal Carcinoma
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Some patients with an inherited predisposition to CRC will be diagnosed with a "genetic polyposis syndrome" such as familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), polymerase proofreading associated polyposis (PPAP), NTHL1-associated polyposis, MSH3-associated polyposis or a hamartomatous polyposis syndrome.
|
30904095 |
2019 |
|
Colorectal Carcinoma
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
In addition to the well-established role of the DNA glycosylase gene MUTYH, biallelic mutations in which predispose to MUTYH-associated polyposis, a second DNA glycosylase gene, NTHL1, has recently been associated with adenomatous polyposis and a high colorectal cancer risk.
|
29105096 |
2018 |
|
Colorectal Carcinoma
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
We therefore found published evidence to support the association between variants in NTHL1 and RPS20 with CRC, but not of other recently reported CRC susceptibility variants.
|
27713038 |
2017 |
|
Colorectal Carcinoma
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Most of the approximately 13 high-penetrance genes that predispose to CRC primarily predispose to colorectal polyps, and each gene is associated with a specific type of polyp, whether conventional adenomas (APC, MUTYH, POLE, POLD1, NTHL1), juvenile polyps (SMAD4, BMPR1A), Peutz-Jeghers hamartomas (LKB1/STK11) and mixed polyps of serrated and juvenile types (GREM1).
|
26169059 |
2015 |
|
Colorectal Carcinoma
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
We conclude that a homozygous loss-of-function germline mutation in the NTHL1 gene predisposes to a new subtype of BER-associated adenomatous polyposis and CRC.
|
25938944 |
2015 |
|
Colorectal Carcinoma
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
To evaluate whether sequence variants of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes might act as CRC susceptibility alleles, we screened the coding sequence and intron-exon boundaries of these genes in 94 familial CRC cases in which involvement of known genes had been excluded.
|
17029639 |
2006 |
|
Colorectal Carcinoma
|
0.390 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|