Detalhe da pesquisa
1.
Recurrent genetic variants and prioritization of variants of uncertain clinical significance associated with hereditary breast and ovarian cancer in families from the Region of Murcia.
Adv Lab Med
; 4(3): 279-287, 2023 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-38075165
2.
Next step in molecular genetics of hereditary breast/ovarian cancer: Multigene panel testing in clinical actionably genes and prioritization algorithms in the study of variants of uncertain significance.
Eur J Med Genet
; 65(4): 104468, 2022 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-35245693
3.
New insights into the performance of multigene panel testing: Two novel nonsense variants in BRIP1 and TP53 in a young woman with breast cancer.
Cancer Genet
; 228-229: 1-4, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30553462
4.
Variantes genéticas recurrentes y priorización de variantes de significado clínico desconocido asociadas al síndrome de cáncer de mama y ovario hereditario en familias de la Región de Murcia.
Adv Lab Med
; 4(3): 288-297, 2023 Sep.
Artigo
Espanhol
| MEDLINE | ID: mdl-38075173
5.
Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain).
Eur J Med Genet
; 61(6): 355-361, 2018 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-29409816
6.
Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers.
Fam Cancer
; 16(4): 477-489, 2017 10.
Artigo
Inglês
| MEDLINE | ID: mdl-28477318
7.
Novel BRCA1 deleterious mutation (c.1918C>T) in familial breast and ovarian cancer syndrome who share a common ancestry.
Fam Cancer
; 13(3): 431-5, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-24633894