Search details
1.
(Pre)treatment risk factors for late fatigue and fatigue trajectories following radiotherapy for breast cancer.
Int J Cancer
; 153(9): 1579-1591, 2023 11 01.
Article
in English
| MEDLINE | ID: mdl-37403702
2.
Comparison of prone and supine positioning for breast cancer radiotherapy using REQUITE data: dosimetry, acute and two years physician and patient-reported outcomes.
Acta Oncol
; 62(9): 1036-1044, 2023 Sep.
Article
in English
| MEDLINE | ID: mdl-37548182
3.
A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.
Clin Chem
; 67(3): 518-533, 2021 03 01.
Article
in English
| MEDLINE | ID: mdl-33280026
4.
Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer.
J Med Genet
; 56(2): 63-74, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30472649
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.
Article
in English
| MEDLINE | ID: mdl-31343793
6.
BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge.
Hum Mutat
; 40(9): 1593-1611, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31112341
7.
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.
Hum Mutat
; 40(9): 1546-1556, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31294896
8.
Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels.
Int J Cancer
; 145(10): 2682-2691, 2019 11 15.
Article
in English
| MEDLINE | ID: mdl-30927264
9.
Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.
Int J Cancer
; 145(2): 401-414, 2019 07 15.
Article
in English
| MEDLINE | ID: mdl-30623411
10.
Reply to: Comments on "(Pre)treatment risk factors for late fatigue and fatigue trajectories following radiotherapy for breast cancer".
Int J Cancer
; 154(4): 759-761, 2024 Feb 15.
Article
in English
| MEDLINE | ID: mdl-37908014
11.
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.
Article
in English
| MEDLINE | ID: mdl-30552643
12.
Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study.
Hum Mutat
; 39(9): 1155-1160, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29969168
13.
BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.
Hum Mutat
; 39(12): 2025-2039, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30204945
14.
Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
J Med Genet
; 53(8): 548-58, 2016 08.
Article
in English
| MEDLINE | ID: mdl-27060066
15.
Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.
Hum Mol Genet
; 23(14): 3666-80, 2014 Jul 15.
Article
in English
| MEDLINE | ID: mdl-24569164
16.
Apoptosis for prediction of radiotherapy late toxicity: lymphocyte subset sensitivity and potential effect of TP53 Arg72Pro polymorphism.
Apoptosis
; 20(3): 371-82, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25398538
17.
Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants.
Hum Mutat
; 35(1): 53-7, 2014 Jan.
Article
in English
| MEDLINE | ID: mdl-24123850
18.
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.
Article
in English
| MEDLINE | ID: mdl-24130102
19.
RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families.
Breast Cancer Res Treat
; 147(1): 133-43, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-25086635
20.
Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.
Clin Chem
; 60(2): 341-52, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-24212087