Detalhe da pesquisa
1.
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Genet Med
; 26(2): 100992, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37800450
2.
SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.
Hered Cancer Clin Pract
; 21(1): 27, 2023 Dec 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38066625
3.
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium.
Hered Cancer Clin Pract
; 20(1): 36, 2022 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36182917
4.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-33257847
5.
Genetic variant interpretation: a primer for clinicians.
Intern Med J
; 51(9): 1401-1406, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34541770
6.
Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
Genet Med
; 22(9): 1569, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32690931
7.
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
Genet Med
; 22(1): 15-25, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31337882
8.
Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report.
Hered Cancer Clin Pract
; 17: 28, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31636762
9.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-30858900
10.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-28754778
11.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-26657901
12.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-27261338
13.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-29046738
14.
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.
Hum Mutat
; 36(7): 712-9, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25871441
15.
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database.
EClinicalMedicine
; 58: 101909, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37181409
16.
Evaluation of literature searching tools for curation of mismatch repair gene variants in hereditary colon cancer.
Adv Genet (Hoboken)
; 2(1): e10039, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36618447
17.
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study.
J Clin Med
; 10(13)2021 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34203177
18.
Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
Eur J Cancer
; 148: 124-133, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33743481
19.
Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database.
J Clin Med
; 9(7)2020 Jul 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32708519
20.
An exploration of genotype-phenotype link between Peutz-Jeghers syndrome and STK11: a review.
Fam Cancer
; 17(3): 421-427, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28900777