Detalhe da pesquisa
1.
Use of multi-gene panels in patients at high risk of hereditary digestive cancer: position statement of AEG, SEOM, AEGH and IMPaCT-GENÓMICA consortium. / Uso de paneles de genes en pacientes con alto riesgo de cáncer digestivo hereditario: documento de posicionamiento de la AEG, SEOM, AEGH y consorcio IMPaCT-GENÓMICA.
Gastroenterol Hepatol
; 47(3): 293-318, 2024 Mar.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-37315767
2.
Characterization of a novel POLD1 missense founder mutation in a Spanish population.
J Gene Med
; 19(4)2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28306219
3.
Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair.
Gastroenterology
; 149(3): 563-6, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26052075
4.
Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer.
J Med Genet
; 52(7): 498-502, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25908759
5.
Mammographic density and breast cancer in women from high risk families.
Breast Cancer Res
; 17: 93, 2015 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26163143
6.
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells.
Eur J Hum Genet
; 2024 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38658779
7.
Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome.
Orphanet J Rare Dis
; 19(1): 26, 2024 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38279137
8.
Prevalence of Homologous Recombination Deficiency Among Patients With Germline RAD51C/D Breast or Ovarian Cancer.
JAMA Netw Open
; 7(4): e247811, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38648056
9.
MicroRNA signatures in hereditary breast cancer.
Breast Cancer Res Treat
; 142(1): 19-30, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24129975
10.
SEOM clinical guideline on heritable TP53-related cancer syndrome (2022).
Clin Transl Oncol
; 25(9): 2627-2633, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37133731
11.
The Scarface Score: Deciphering Response to DNA Damage Agents in High-Grade Serous Ovarian Cancer-A GEICO Study.
Cancers (Basel)
; 15(11)2023 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37296992
12.
Laboratory Cross-Comparison and Ring Test Trial for Tumor BRCA Testing in a Multicenter Epithelial Ovarian Cancer Series: The BORNEO GEICO 60-0 Study.
J Pers Med
; 12(11)2022 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36579549
13.
Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome.
BMC Med Genet
; 12: 12, 2011 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-21247423
14.
Prevalence and Clinicopathological Characteristics of Moderate and High-Penetrance Genes in Non-BRCA1/2 Breast Cancer High-Risk Spanish Families.
J Pers Med
; 11(6)2021 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34204722
15.
[Bladder paraganglioma: Report of two cases and a literature review.] / Paraganglioma vesical: reporte de dos casos clínicos y revisión de la literatura.
Arch Esp Urol
; 74(4): 445-449, 2021 May.
Artigo
em Espanhol
| MEDLINE | ID: mdl-33942738
16.
Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.
Cancer Commun (Lond)
; 41(3): 218-228, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33630411
17.
Risk of Cancer in Family Members of Patients with Lynch-Like Syndrome.
Cancers (Basel)
; 12(8)2020 Aug 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32784934
18.
Cost-utility analysis of germline BRCA1/2 testing in women with high-grade epithelial ovarian cancer in Spain.
Clin Transl Oncol
; 21(8): 1076-1084, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30617925
19.
SEOM clinical guideline on heritable TP53-related cancer syndrome (2022)
Clin. transl. oncol. (Print)
; 25(9): 2627-2633, sept. 2023.
Artigo
em Inglês
| IBECS (Espanha) | ID: ibc-224129
20.
Relationship of immunohistochemistry, copy number aberrations and epigenetic disorders with BRCAness pattern in hereditary and sporadic breast cancer.
Fam Cancer
; 15(2): 193-200, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26723934