Add to ORKGBiallelic germline mutations affecting NTHL1 predispose carriers to adenomatous polyposis and colorectal cancer, but the complete phenotype is unknown. We describe 29 individuals carrying biallelic germline NTHL1 mutations from 17 families, of which 26 developed one (n = 10) or multiple (n = 16) malignancies in 14 different tissues. An unexpected high breast cancer incidence was observed in female carriers (60%). Mutational signature analysis of 14 tumors from 7 organs revealed that NTHL1 deficiency underlies the main mutational process in all but one of the tumors (93%). These results reveal NTHL1 as a multi-tumor predisposition gene with a high lifetime risk for extracolonic cancers and a typical mutational signature observed across tumor...
In similar to 30% of families affected by colorectal adenomatous polyposis, no germline mutations ha...
MUTYH gene is involved in the base excision repair (BER) mechanism and its pathogenic alterations ar...
In ∼30% of families affected by colorectal adenomatous polyposis, no germline mutations have been id...
Biallelic germline mutations affecting NTHL1 predispose carriers to adenomatous polyposis and colore...
A patient is described with multiple cancers and compound heterozygous mutations in NTHL1, a recentl...
Bi-allelic loss-of-function (LoF) variants in the base excision repair (BER) gene NTHL1 cause a high...
Bi-allelic loss-of-function (LoF) variants in the base excision repair (BER) gene NTHL1 cause a high...
It is now well established that germline genomic aberrations can underlie high-penetrant familial po...
BACKGROUND: Rare protein truncating variants of NTHL1 gene are causative for the recently described,...
The genetic cause underlying the development of multiple colonic adenomas, the premalignant precurso...
Molecular tumour pathology - and tumour geneticsMTG2 - Moleculaire genetica van gastrointestinale tu...
POLE, POLD1, and NTHL1 are involved in DNA replication and have recently been recognized as heredita...
Carriers of germline biallelic pathogenic variants in the MUTYH gene have a high risk of colorectal ...
sequencing identifies MUTYH mutations in a family with colorectal cancer and an atypical phenotype M...
In similar to 30% of families affected by colorectal adenomatous polyposis, no germline mutations ha...
MUTYH gene is involved in the base excision repair (BER) mechanism and its pathogenic alterations ar...
In ∼30% of families affected by colorectal adenomatous polyposis, no germline mutations have been id...
Biallelic germline mutations affecting NTHL1 predispose carriers to adenomatous polyposis and colore...
A patient is described with multiple cancers and compound heterozygous mutations in NTHL1, a recentl...
Bi-allelic loss-of-function (LoF) variants in the base excision repair (BER) gene NTHL1 cause a high...
Bi-allelic loss-of-function (LoF) variants in the base excision repair (BER) gene NTHL1 cause a high...
It is now well established that germline genomic aberrations can underlie high-penetrant familial po...
BACKGROUND: Rare protein truncating variants of NTHL1 gene are causative for the recently described,...
The genetic cause underlying the development of multiple colonic adenomas, the premalignant precurso...
Molecular tumour pathology - and tumour geneticsMTG2 - Moleculaire genetica van gastrointestinale tu...
POLE, POLD1, and NTHL1 are involved in DNA replication and have recently been recognized as heredita...
Carriers of germline biallelic pathogenic variants in the MUTYH gene have a high risk of colorectal ...
sequencing identifies MUTYH mutations in a family with colorectal cancer and an atypical phenotype M...
In similar to 30% of families affected by colorectal adenomatous polyposis, no germline mutations ha...
MUTYH gene is involved in the base excision repair (BER) mechanism and its pathogenic alterations ar...
In ∼30% of families affected by colorectal adenomatous polyposis, no germline mutations have been id...