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94 results on '"Feliubadaló L"'

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1. Incorporating alternative Polygenic Risk Scores into the BOADICEA breast cancer risk prediction model

2. 139P Breast cancer risk estimation (CanRisk tool) and perception in unaffected women with family history of breast cancer

3. Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer

4. The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

5. 1897P Germline and somatic mutational landscape in a cohort of malignant pleural mesothelioma patients

7. Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition

8. Assessing associations between the AURKAHMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

9. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

10. Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

11. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

12. Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

13. Identification of a founderBRCA1mutation in the Moroccan population

14. Assessing associations between the AURKAHMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

15. Candidate genetic modifiers for breast and ovarian cancer risk inBRCA1andBRCA2 mutation carriers

16. Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

17. Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2

18. Identification of a founder BRCA1 mutation in the Moroccan population.

19. Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1

20. Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families

21. BARD1 Pathogenic Variants Are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort

22. Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

23. Open-Source Bioinformatic Pipeline to Improve PMS2 Genetic Testing Using Short-Read NGS Data.

24. The BRCA2 R2645G variant increases DNA binding and induces hyper-recombination.

25. SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population.

26. Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum.

27. A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis.

28. Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.

29. ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.

30. Choosing Variant Interpretation Tools for Clinical Applications: Context Matters.

31. Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model.

32. vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.

33. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

35. First international workshop of the ATM and cancer risk group (4-5 December 2019).

36. A decade of RAD51C and RAD51D germline variants in cancer.

37. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.

38. RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant.

39. CNVfilteR: an R/Bioconductor package to identify false positives produced by germline NGS CNV detection tools.

40. The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.

41. A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.

42. Evaluation of CNV detection tools for NGS panel data in genetic diagnostics.

43. ERCC3, a new ovarian cancer susceptibility gene?

44. Role of POLE and POLD1 in familial cancer.

45. Improving Genetic Testing in Hereditary Cancer by RNA Analysis: Tools to Prioritize Splicing Studies and Challenges in Applying American College of Medical Genetics and Genomics Guidelines.

46. Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.

47. Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.

48. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.

49. Assessment of ovarian reserve and reproductive outcomes in BRCA1 or BRCA2 mutation carriers.

50. Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers.

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