Detalhe da pesquisa
1.
RECQL5: Another DNA helicase potentially involved in hereditary breast cancer susceptibility.
Hum Mutat;
40(5): 566-577, 2019 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30817846
2.
Whole exome sequencing identifies PLEC, EXO5 and DNAH7 as novel susceptibility genes in testicular cancer.
Int J Cancer;
143(8): 1954-1962, 2018 10 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29761480
3.
Germline missense pathogenic variants in the BRCA1 BRCT domain, p.Gly1706Glu and p.Ala1708Glu, increase cellular sensitivity to PARP inhibitor olaparib by a dominant negative effect.
Hum Mol Genet;
25(24): 5287-5299, 2016 12 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27742776
4.
Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes.
Br J Cancer;
117(7): 1048-1062, 2017 Sep 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28829762
5.
DNA repair capacity is impaired in healthy BRCA1 heterozygous mutation carriers.
Breast Cancer Res Treat;
152(2): 271-82, 2015 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26071757
6.
About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants.
Int J Cancer;
134(9): 2088-97, 2014 May 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24130102
7.
Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles.
Hum Mutat;
34(12): 1615-8, 2013 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24027083
8.
The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.
Carcinogenesis;
34(11): 2505-11, 2013 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23929434
9.
Short telomeres are frequent in hereditary breast tumors and are associated with high tumor grade.
Breast Cancer Res Treat;
141(2): 231-42, 2013 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24036693
10.
Mutational analysis of telomere genes in BRCA1/2-negative breast cancer families with very short telomeres.
Breast Cancer Res Treat;
134(3): 1337-43, 2012 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22752289
11.
A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility.
Cancers (Basel);
14(19)2022 Sep 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36230663
12.
Alterations in SLC4A2, SLC26A7 and SLC26A9 Drive Acid-Base Imbalance in Gastric Neuroendocrine Tumors and Uncover a Novel Mechanism for a Co-Occurring Polyautoimmune Scenario.
Cells;
10(12)2021 12 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34944008
13.
Germline CDH1 G212E Missense Variant: Combining Clinical, In Vitro and In Vivo Strategies to Unravel Disease Burden.
Cancers (Basel);
13(17)2021 Aug 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34503169
14.
Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
JAMA Oncol;
6(8): 1218-1230, 2020 08 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32614418
15.
The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases.
Cancers (Basel);
12(2)2020 01 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31991861
16.
Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.
Cancer Res;
80(3): 624-638, 2020 02 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31723001
17.
Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition.
Carcinogenesis;
30(11): 1898-902, 2009 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19737859
18.
Evaluation of the BRCA1 interacting genes RAP80 and CCDC98 in familial breast cancer susceptibility.
Breast Cancer Res Treat;
113(2): 371-6, 2009 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18270812
19.
Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families.
Breast Cancer Res Treat;
113(3): 545-51, 2009 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18302019
20.
Revista VacciMonitor: adopción de la modalidad de publicación continua / VacciMonitor journal: adoption of continuous publication modality
Vaccimonitor (La Habana, Print);
322023.
Artigo
em Espanhol
| LILACS
| ID: biblio-1442251