Detalhe da pesquisa
1.
Genetic landscape of homologous recombination repair genes in early-onset/familial prostate cancer patients.
Genes Chromosomes Cancer
; 62(12): 710-720, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37436117
2.
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
Lancet Oncol
; 24(1): 91-106, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36436516
3.
Exome sequencing of affected duos and trios uncovers PRUNE2 as a novel prostate cancer predisposition gene.
Br J Cancer
; 128(6): 1077-1085, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36564567
4.
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.
Br J Cancer
; 128(12): 2283-2294, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37076566
5.
Implementation of upfront DPYD genotyping with a low-cost and high-throughput assay to guide fluoropyrimidine treatment in cancer patients.
Pharmacogenet Genomics
; 33(8): 165-171, 2023 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37611150
6.
Practical lessons learned from real-world implementation of the molecular classification for endometrial carcinoma.
Gynecol Oncol
; 176: 53-61, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37453219
7.
KRAS and NRAS mutational analysis in plasma ctDNA from patients with metastatic colorectal cancer by real-time PCR and digital PCR.
Int J Colorectal Dis
; 37(4): 895-905, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35303157
8.
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study.
Lancet Oncol
; 22(11): 1618-1631, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34678156
9.
When to Stop TKIs in Patients with Chronic Myeloid Leukemia and How to Follow Them Subsequently.
Curr Treat Options Oncol
; 22(6): 49, 2021 04 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33866455
10.
Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer.
PLoS Genet
; 14(4): e1007355, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29659569
11.
Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia.
Breast Cancer Res
; 22(1): 108, 2020 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33087180
12.
Surveillance of succinate dehydrogenase gene mutation carriers: Insights from a nationwide cohort.
Clin Endocrinol (Oxf)
; 92(6): 545-553, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32181896
13.
Constitutional and somatic rearrangement of chromosome 21 in acute lymphoblastic leukaemia.
Nature
; 508(7494): 98-102, 2014 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24670643
14.
Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.
Int J Mol Sci
; 21(14)2020 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32708810
15.
The nonsense mutation MSH2 c.2152C>T shows a founder effect in Portuguese Lynch syndrome families.
Genes Chromosomes Cancer
; 58(9): 657-664, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30968502
16.
AA9int: SNP interaction pattern search using non-hierarchical additive model set.
Bioinformatics
; 34(24): 4141-4150, 2018 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29878078
17.
Prostate cancer risk regions at 8q24 and 17q24 are differentially associated with somatic TMPRSS2:ERG fusion status.
Hum Mol Genet
; 25(24): 5490-5499, 2016 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27798103
18.
Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.
Br J Cancer
; 118(2): 266-276, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29301143
19.
Gene and pathway level analyses of germline DNA-repair gene variants and prostate cancer susceptibility using the iCOGS-genotyping array.
Br J Cancer
; 118(6): e9, 2018 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29438362
20.
Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.
Br J Cancer
; 118(6): e17, 2018 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29509747