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1.
Long-term outcome of high-grade serous carcinoma established in risk-reducing salpingo-oophorectomy specimens in asymptomatic BRCA1/2 germline pathogenic variant carriers.
Gynecol Oncol
; 187: 198-203, 2024 May 24.
Article
in English
| MEDLINE | ID: mdl-38795508
2.
Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers.
Mod Pathol
; 36(9): 100240, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37307877
3.
First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants.
J Med Genet
; 59(12): 1189-1195, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36038258
4.
PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients.
Breast Cancer Res
; 24(1): 69, 2022 10 21.
Article
in English
| MEDLINE | ID: mdl-36271417
5.
Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer.
Genes Chromosomes Cancer
; 2020 Jul 02.
Article
in English
| MEDLINE | ID: mdl-32615015
6.
Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility.
J Med Genet
; 55(10): 669-674, 2018 10.
Article
in English
| MEDLINE | ID: mdl-29330337
7.
Correction: PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients.
Breast Cancer Res
; 24(1): 82, 2022 Nov 22.
Article
in English
| MEDLINE | ID: mdl-36419099
8.
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
Hum Mutat
; 37(11): 1162-1179, 2016 11.
Article
in English
| MEDLINE | ID: mdl-27435373
9.
Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1.
Gastroenterology
; 149(4): 897-906.e19, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-26072394
10.
Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair.
J Med Genet
; 51(4): 245-53, 2014 Apr.
Article
in English
| MEDLINE | ID: mdl-24501230
11.
Germ-line and somatic DICER1 mutations in pineoblastoma.
Acta Neuropathol
; 128(4): 583-95, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-25022261
12.
MLH1 Promotor Hypermethylation in Colorectal and Endometrial Carcinomas from Patients with Lynch Syndrome.
J Mol Diagn
; 26(2): 106-114, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-38061582
13.
Increased colorectal cancer risk during follow-up in patients with hyperplastic polyposis syndrome: a multicentre cohort study.
Gut
; 59(8): 1094-100, 2010 Aug.
Article
in English
| MEDLINE | ID: mdl-19710031
14.
Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.
Hum Mutat
; 31(5): 578-87, 2010 May.
Article
in English
| MEDLINE | ID: mdl-20186688
15.
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines.
Cancers (Basel)
; 11(8)2019 Aug 04.
Article
in English
| MEDLINE | ID: mdl-31382694
16.
Two TP53 germline mutations in a classical Li-Fraumeni syndrome family.
Fam Cancer
; 6(3): 311-6, 2007.
Article
in English
| MEDLINE | ID: mdl-17318340
17.
Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.
Eur J Hum Genet
; 25(11): 1246-1252, 2017 11.
Article
in English
| MEDLINE | ID: mdl-28875981
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