Detalhe da pesquisa
1.
Co-design of patient information leaflets for germline predisposition to cancer: recommendations for clinical practice from the UK Cancer Genetics Group (UKCGG), Cancer Research UK (CRUK) funded CanGene-CanVar Programme and the Association of Genetic Nurse Counsellors (AGNC).
J Med Genet
; 61(2): 142-149, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38050080
2.
Elongin C (ELOC/TCEB1)-associated von Hippel-Lindau disease.
Hum Mol Genet
; 31(16): 2728-2737, 2022 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35323939
3.
The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2.
J Med Genet
; 60(5): 440-449, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36319079
4.
Massive open online courses (MOOCs) in genomic variant interpretation: An innovative education strategy for the growing genetic counselor workforce.
J Genet Couns
; 33(1): 142-150, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38013198
5.
Utility of polygenic risk scores in UK cancer screening: a modelling analysis.
Lancet Oncol
; 24(6): 658-668, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37178708
6.
Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium.
Breast Cancer Res
; 25(1): 72, 2023 06 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37340476
7.
Management of patients with germline predisposition to haematological malignancies considered for allogeneic blood and marrow transplantation: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene-CanVar, NHS England Genomic Laboratory Hub (GLH) Haematological Malignancies Working Group and the British Society of Blood and Marrow Transplantation and cellular therapy (BSBMTCT).
Br J Haematol
; 201(1): 35-44, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36786081
8.
Germline predisposition to haematological malignancies: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene-CanVar and the NHS England Haematological Oncology Working Group.
Br J Haematol
; 201(1): 25-34, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36744544
9.
From diagnosis of colorectal cancer to diagnosis of Lynch syndrome: The RM Partners quality improvement project.
Colorectal Dis
; 25(9): 1844-1851, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37553835
10.
'A good decision is the one that feels right for me': Codesign with patients to inform theoretical underpinning of a decision aid website.
Health Expect
; 2023 Sep 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37705192
11.
Evaluation of two Massive Open Online Courses (MOOCs) in genomic variant interpretation for the NHS workforce.
BMC Med Educ
; 23(1): 540, 2023 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37507729
12.
Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service.
Br J Cancer
; 126(9): 1339-1345, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35184155
13.
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Genet Med
; 24(1): 41-50, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906457
14.
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study.
Lancet Oncol
; 22(11): 1618-1631, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34678156
15.
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
Am J Hum Genet
; 103(1): 3-18, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29909963
16.
Challenges in developing and implementing international best practice guidance for intermediate-risk variants in cancer susceptibility genes: APC c.3920T>A p.(Ile1307Lys) as an exemplar.
J Med Genet
; 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38697781
17.
The impact of artificial intelligence on the current and future practice of clinical cancer genomics.
Genet Res (Camb)
; 101: e9, 2019 10 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-31668155
18.
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
Nature
; 493(7432): 406-10, 2013 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-23242139
19.
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
J Med Genet
; 55(6): 384-394, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29386252
20.
Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study.
Genet Med
; 20(12): 1575-1582, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29565421