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219 results on '"Spurdle A.B."'

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1. Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers

2. Use of aspirin, other nonsteroidal anti-inflammatory drugs and acetaminophen and risk of endometrial cancer: the Epidemiology of Endometrial Cancer Consortium

4. Clinical, splicing and functional analysis to classify BRCA2 exon 3 variants

5. Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines.

6. Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women

7. Breast cancer risks associated with missense variants in breast cancer susceptibility genes

8. Cross-Cancer Genome-Wide Association Study of Endometrial Cancer and Epithelial Ovarian Cancer Identifies Genetic Risk Regions Associated with Risk of Both Cancers.

9. Cross-Cancer Genome-Wide Association Study of Endometrial Cancer and Epithelial Ovarian Cancer Identifies Genetic Risk Regions Associated with Risk of Both Cancers

10. Correction to: The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability (Clinical Epigenetics, (2020), 12, 1, (102), 10.1186/s13148-020-00889-3).

11. Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer.

12. Breast cancer risk genes - Association analysis in more than 113,000 women.

13. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants.

14. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

15. Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness.

16. Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers.

17. The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability.

18. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.

19. Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.

20. Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer.

21. Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer

22. Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

23. Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome

24. Shared heritability and functional enrichment across six solid cancers (vol 10, 431, 2019)

25. BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

26. The geographic distribution of human Y chromosome variation

27. Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants

28. Shared heritability and functional enrichment across six solid cancers.

29. Publisher Correction: Shared heritability and functional enrichment across six solid cancers (Nature Communications, (2019), 10, 1, (431), 10.1038/s41467-018-08054-4).

30. Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer.

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

32. Activity of durvalumab in advanced endometrial cancer (AEC) according to mismatch repair (MMR) status: The phase II PHAEDRA trial (ANZGOG1601).

33. Erratum: Publisher Correction: Shared heritability and functional enrichment across six solid cancers (Nature communications (2019) 10 1 (431))

34. Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report

35. The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

36. BRCA1 Circos: a visualisation resource for functional analysis of missense variants

37. Identification of nine new susceptibility loci for endometrial cancer.

38. The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

39. Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

40. Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers

42. Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study

43. Association between telomere length and risk of cancer and non-neoplastic diseases a mendelian randomization study

44. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

45. BRCA2 polymorphic stop codon K3326X and the risk of breast, prostate, and ovarian cancers

46. BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

47. A Nonsynonymous Polymorphism in IRS1 Modifies Risk of Developing Breast and Ovarian Cancers in BRCA1 and Ovarian Cancer in BRCA2 Mutation Carriers

48. Deciphering the Colon Cancer Genes-Report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010

49. Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci

50. Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers

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