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29 results on '"Torres-Esquius S"'

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1. Topic: AS07-Singular Entities/Subtypes/AS07c-Hereditary MDS including predisposition syndromes: SECONDARY FINDINGS IN EXOME SEQUENCING IN 240 EARLY-ONSET ADULT MYELODYSPLASTIC SYNDROMES WITHOUT PREVIOUS DISORDER

2. Topic: AS07-Singular Entities/Subtypes/AS07c-Hereditary MDS including predisposition syndromes: HIGH PREVALENCE OF IDIOPATHIC DYPSLASIA OF UNDETERMINED SIGNIFICANCE (IDUS) AND CLONAL HEMATOPOIESIS OF INDETEMINATE POTENTIAL (CHIP) AMONG RELATIVES OF HEMATOLOGIC NEOPLASMS WITH GERMLINE PREDISPOSITION PATIENTS

3. Topic: AS07-Singular Entities/Subtypes/AS07a-ARCH, CCUS, ICUS: PREVALENCE, DYNAMICS AND CLINICAL SIGNIFICANCE OF CLONAL HEMATOPOIESIS OF INDETERMINATE POTENTIAL (CHIP) IN NEWLY DIAGNOSED CANCER PATIENTS

4. P109 - Topic: AS07-Singular Entities/Subtypes/AS07a-ARCH, CCUS, ICUS: PREVALENCE, DYNAMICS AND CLINICAL SIGNIFICANCE OF CLONAL HEMATOPOIESIS OF INDETERMINATE POTENTIAL (CHIP) IN NEWLY DIAGNOSED CANCER PATIENTS

5. P114 - Topic: AS07-Singular Entities/Subtypes/AS07c-Hereditary MDS including predisposition syndromes: HIGH PREVALENCE OF IDIOPATHIC DYPSLASIA OF UNDETERMINED SIGNIFICANCE (IDUS) AND CLONAL HEMATOPOIESIS OF INDETEMINATE POTENTIAL (CHIP) AMONG RELATIVES OF HEMATOLOGIC NEOPLASMS WITH GERMLINE PREDISPOSITION PATIENTS

7. 12P Prevalence of functional and genomic homologous recombination deficiency (HRD) in germline RAD51C/D patients

9. Characterization of the Cancer Spectrum in Men with Germline BRCA1 and BRCA2 Pathogenic Variants: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

10. Association of premenopausal risk-reducing salpingo-oophorectomy with breast cancer risk in BRCA1/2 mutation carriers: Maximising bias-reduction

11. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

12. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

13. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

14. Genetic and functional homologous repair deficiency as biomarkers for platinum sensitivity in TNBC: A case report

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

16. Germline assessment for alloHSCT candidates over 50 years: A 'Fast-Track' screening in myeloid neoplasms.

17. Risk of endometrial cancer after RRSO in BRCA 1/2 carriers: a multicentre cohort study.

18. Prevalence of Homologous Recombination Deficiency Among Patients With Germline RAD51C/D Breast or Ovarian Cancer.

19. Two Germline Pathogenic Variants in Cancer Susceptibility Genes and Their Null Implication in Breast Cancer Pathogenesis: The Importance of Tumoral Homologous Recombination Deficiency Testing.

20. Role of psychological background in cancer susceptibility genetic testing distress: It is not only about a positive result.

21. Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders.

22. A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome.

23. Patients' and professionals' perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVID-19 pandemic.

24. Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

25. Association of premenopausal risk-reducing salpingo-oophorectomy with breast cancer risk in BRCA1/2 mutation carriers: Maximising bias-reduction.

26. Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes.

27. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

28. Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T.

29. Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.

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