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
Inglês
| MEDLINE | ID: mdl-37800450
2.
Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on APC I1307K and cancer risk.
J Med Genet
; 60(11): 1035-1043, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37076288
3.
The predicted effect and cost-effectiveness of tailoring colonoscopic surveillance according to mismatch repair gene in patients with Lynch syndrome.
Genet Med
; 24(9): 1831-1846, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35809086
4.
Molecular pathology of Lynch syndrome.
J Pathol
; 250(5): 518-531, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32141610
5.
The proportion of endometrial tumours associated with Lynch syndrome (PETALS): A prospective cross-sectional study.
PLoS Med
; 17(9): e1003263, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32941469
6.
The predicted impact and cost-effectiveness of systematic testing of people with incident colorectal cancer for Lynch syndrome.
Med J Aust
; 212(2): 72-81, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31595523
7.
Challenges in developing and implementing international best practice guidance for intermediate-risk variants in cancer susceptibility genes: APC c.3920T>A p.(Ile1307Lys) as an exemplar.
J Med Genet
; 2024 May 02.
Artigo
Inglês
| MEDLINE | ID: mdl-38697781
8.
Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation.
J Med Genet
; 56(4): 209-219, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30530636
9.
Universal screening for Lynch syndrome in a large consecutive cohort of Chinese colorectal cancer patients: High prevalence and unique molecular features.
Int J Cancer
; 144(9): 2161-2168, 2019 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30521064
10.
High endothelial venules are associated with microsatellite instability, hereditary background and immune evasion in colorectal cancer.
Br J Cancer
; 121(5): 395-404, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31358939
11.
The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome.
Genet Med
; 21(10): 2390-2400, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30918358
12.
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.
Am J Med Genet A
; 179(6): 1091-1097, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30908877
13.
Lynch syndrome - cancer pathways, heterogeneity and immune escape.
J Pathol
; 246(2): 129-133, 2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30027543
14.
Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group.
J Med Genet
; 55(6): 372-377, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29661970
15.
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
Inglês
| MEDLINE | ID: mdl-28754778
16.
The NF1 somatic mutational landscape in sporadic human cancers.
Hum Genomics
; 11(1): 13, 2017 06 21.
Artigo
Inglês
| MEDLINE | ID: mdl-28637487
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.
Artigo
Inglês
| 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.
Artigo
Inglês
| MEDLINE | ID: mdl-27261338
19.
A systematic review of test accuracy studies evaluating molecular micro-satellite instability testing for the detection of individuals with lynch syndrome.
BMC Cancer
; 17(1): 836, 2017 12 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29221446
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.
Artigo
Inglês
| MEDLINE | ID: mdl-29046738