Search details
1.
Quality of Colonoscopy Is Associated With Adenoma Detection and Postcolonoscopy Colorectal Cancer Prevention in Lynch Syndrome.
Clin Gastroenterol Hepatol
; 20(3): 611-621.e9, 2022 03.
Article
in English
| MEDLINE | ID: mdl-33157315
2.
TP53, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypes.
Gut
; 70(6): 1139-1146, 2021 06.
Article
in English
| MEDLINE | ID: mdl-32998877
3.
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
Genet Med
; 23(4): 705-712, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33257847
4.
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
J Med Genet
; 57(4): 269-273, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31494577
5.
Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review.
Hum Mutat
; 41(9): 1563-1576, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32449991
6.
Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.
Hum Mutat
; 41(12): 2128-2142, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32906215
7.
Role of POLE and POLD1 in familial cancer.
Genet Med
; 22(12): 2089-2100, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32792570
8.
Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?
J Med Genet
; 56(8): 521-525, 2019 08.
Article
in English
| MEDLINE | ID: mdl-30580288
9.
Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1- and MSH3-associated polyposes.
Hum Mutat
; 40(11): 1910-1923, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31243857
10.
Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer.
Gastroenterology
; 154(1): 181-194.e20, 2018 01.
Article
in English
| MEDLINE | ID: mdl-28912018
11.
Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report.
Hered Cancer Clin Pract
; 17: 28, 2019.
Article
in English
| MEDLINE | ID: mdl-31636762
12.
Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report.
Hered Cancer Clin Pract
; 17: 8, 2019.
Article
in English
| MEDLINE | ID: mdl-30858900
13.
Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database.
Gut
; 67(7): 1306-1316, 2018 07.
Article
in English
| MEDLINE | ID: mdl-28754778
14.
Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis.
Hum Mutat
; 39(9): 1214-1225, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29900613
15.
Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis.
Mol Cancer
; 17(1): 23, 2018 02 15.
Article
in English
| MEDLINE | ID: mdl-29448935
16.
Primary constitutional MLH1 epimutations: a focal epigenetic event.
Br J Cancer
; 119(8): 978-987, 2018 10.
Article
in English
| MEDLINE | ID: mdl-30283143
17.
Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database.
Gut
; 66(3): 464-472, 2017 03.
Article
in English
| MEDLINE | ID: mdl-26657901
18.
Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database.
Gut
; 66(9): 1657-1664, 2017 09.
Article
in English
| MEDLINE | ID: mdl-27261338
19.
Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.
Int J Cancer
; 141(7): 1365-1380, 2017 10 01.
Article
in English
| MEDLINE | ID: mdl-28577310
20.
Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report.
Hered Cancer Clin Pract
; 15: 18, 2017.
Article
in English
| MEDLINE | ID: mdl-29046738