Detalles de la búsqueda
1.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-28754778
2.
Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes.
Int J Cancer;
143(11): 2800-2813, 2018 12 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29987844
3.
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
Hum Mol Genet;
25(11): 2256-2268, 2016 06 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27008870
4.
Distinct Patterns of Somatic Mosaicism in the APC Gene in Neoplasms From Patients With Unexplained Adenomatous Polyposis.
Gastroenterology;
152(3): 546-549.e3, 2017 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-27816598
5.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-26657901
6.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-27261338
7.
Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.
Br J Cancer;
117(6): 1215-1223, 2017 Sep 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-28742792
8.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29046738
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-27435373
10.
The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.
Genet Med;
18(4): 405-9, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26110232
11.
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk.
PLoS Genet;
9(3): e1003173, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23544012
12.
Impact of serotherapy on immune reconstitution and survival outcomes after stem cell transplantations in children: thymoglobulin versus alemtuzumab.
Biol Blood Marrow Transplant;
21(3): 473-82, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25485863
13.
Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis.
J Med Genet;
51(1): 55-60, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24253443
14.
Variants of uncertain significance in BRCA1 and BRCA2 assessment of in silico analysis and a proposal for communication in genetic counselling.
J Med Genet;
50(2): 74-9, 2013 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-23231788
15.
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts.
Gut;
62(6): 812-23, 2013 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-23408351
16.
Combined analysis of three Lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers.
Int J Cancer;
132(7): 1556-64, 2013 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-22987364
17.
Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.
Br J Cancer;
118(2): e4, 2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29361631
18.
Rare variants in XRCC2 as breast cancer susceptibility alleles.
J Med Genet;
49(10): 618-20, 2012 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-23054243
19.
The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients.
Hered Cancer Clin Pract;
11(1): 20, 2013 Dec 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-24373140
20.
Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial.
Lancet Oncol;
13(12): 1242-9, 2012 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-23140761