Detalhe da pesquisa
1.
Germline assessment for alloHSCT candidates over 50 years: A 'Fast-Track' screening in myeloid neoplasms.
Br J Haematol
; 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38639421
2.
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders.
J Med Genet
; 60(7): 685-691, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446584
3.
Role of psychological background in cancer susceptibility genetic testing distress: It is not only about a positive result.
J Genet Couns
; 32(4): 778-787, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36748747
4.
Patients' and professionals' perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVID-19 pandemic.
Genet Med
; 23(8): 1450-1457, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824504
5.
Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes.
Hum Mutat
; 40(12): 2296-2317, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31343793
6.
Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T.
Breast Cancer Res Treat
; 174(2): 543-550, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30552643
7.
Two Germline Pathogenic Variants in Cancer Susceptibility Genes and Their Null Implication in Breast Cancer Pathogenesis: The Importance of Tumoral Homologous Recombination Deficiency Testing.
JCO Precis Oncol
; 8: e2300446, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38513169
8.
Risk of endometrial cancer after RRSO in BRCA 1/2 carriers: a multicentre cohort study.
Clin Transl Oncol
; 26(4): 1033-1037, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37682500
9.
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
10.
A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome.
Fam Cancer
; 22(1): 99-102, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35781852
11.
Genetic and functional homologous repair deficiency as biomarkers for platinum sensitivity in TNBC: A case report.
Front Oncol
; 12: 963728, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36185283
12.
BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort.
Genes (Basel)
; 12(2)2021 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33498765
13.
Association of premenopausal risk-reducing salpingo-oophorectomy with breast cancer risk in BRCA1/2 mutation carriers: Maximising bias-reduction.
Eur J Cancer
; 132: 53-60, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32325420
14.
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.
J Cancer Res Clin Oncol
; 144(12): 2495-2513, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30306255