47 results on '"Balmaña, Judith"'
Search Results
2. Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome
3. Clinical effectiveness and safety of olaparib in BRCA-mutated, HER2-negative metastatic breast cancer in a real-world setting: final analysis of LUCY
4. Risk of endometrial cancer after RRSO in BRCA 1/2 carriers: a multicentre cohort study
5. Genomic analysis of advanced breast cancer tumors from talazoparib-treated gBRCA1/2mut carriers in the ABRAZO study
6. An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history
7. Efficacy and safety of rucaparib treatment in patients with BRCA-mutated, relapsed ovarian cancer: final results from Study 10
8. Polygenic risk modeling for prediction of epithelial ovarian cancer risk
9. Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers
10. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
11. The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology
12. Prevalence of mutations in BRCA and homologous recombination repair genes and real-world standard of care of Asian patients with HER2-negative metastatic breast cancer starting first-line systemic cytotoxic chemotherapy: subgroup analysis of the global BREAKOUT study
13. Patients’ and professionals’ perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVID-19 pandemic
14. Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
15. Clinical consequences of BRCA2 hypomorphism
16. Clinical behavior and outcomes of breast cancer in young women with germline BRCA pathogenic variants
17. Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk
18. Correction to: Prevalence of mutations in BRCA and homologous recombination repair genes and real-world standard of care of Asian patients with HER2-negative metastatic breast cancer starting first-line systemic cytotoxic chemotherapy: subgroup analysis of the global BREAKOUT study
19. Author Correction: The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology
20. Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T
21. Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings
22. BRCA1 intronic Alu elements drive gene rearrangements and PARP inhibitor resistance
23. Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
24. A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation
25. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
26. Selecting Patients with Ovarian Cancer for Germline BRCA Mutation Testing: Findings from Guidelines and a Systematic Literature Review
27. SOLTI NeoPARP: a phase II randomized study of two schedules of iniparib plus paclitaxel versus paclitaxel alone as neoadjuvant therapy in patients with triple-negative breast cancer
28. Molecular features of the basal-like breast cancer subtype based on BRCA1 mutation status
29. RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families
30. Prediction models in Lynch syndrome
31. Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer
32. The Role of Platinum Compounds for the Treatment of Breast Cancer
33. Mutation analysis of the SHFM1 gene in breast/ovarian cancer families
34. Characterization of four novel BRCA2 large genomic rearrangements in Spanish breast/ovarian cancer families: review of the literature, and reevaluation of the genetic mechanisms involved in their origin
35. Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members
36. Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer
37. Evidence for a link between TNFRSF11A and risk of breast cancer
38. International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation
39. Uptake of predictive testing among relatives of BRCA1 and BRCA2 families: a multicenter study in northeastern Spain
40. Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing
41. Local therapy in BRCA1 and BRCA2 mutation carriers with operable breast cancer: comparison of breast conservation and mastectomy
42. A novel de novo BRCA2 mutation of paternal origin identified in a Spanish woman with early onset bilateral breast cancer
43. Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers
44. The variants BRCA1 IVS6-1G>A and BRCA2 IVS15+1G>A lead to aberrant splicing of the transcripts
45. Sex Ratio Distortion in Offspring of Families with BRCA1 or BRCA2 Mutant Alleles: An Ascertainment Bias Phenomenon?
46. What is the hereditary non-polyposis colorectal cancer syndrome?
47. Detection of the CHEK2 1100delC mutation by MLPA BRCA1/2 analysis: a worthwhile strategy for its clinical applicability in 1100delC low-frequency populations?
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.