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1.
Extent of investigation and management of cases of 'unexplained' mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus.
J Med Genet
; 2024 Apr 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-38531626
2.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38050080
3.
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey.
J Med Genet
; 61(4): 305-312, 2024 Mar 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-38154813
4.
Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers.
J Med Genet
; 2024 Jun 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38834293
5.
Joint ABS-UKCGG-CanGene-CanVar consensus regarding the use of CanRisk in clinical practice.
Br J Cancer
; 2024 Jun 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38834743
6.
UK recommendations for SDHA germline genetic testing and surveillance in clinical practice.
J Med Genet
; 60(2): 107-111, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-35260474
7.
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
J Med Genet
; 60(5): 417-429, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36411032
8.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36319079
9.
Utility of polygenic risk scores in UK cancer screening: a modelling analysis.
Lancet Oncol
; 24(6): 658-668, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-37178708
10.
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
Lancet Oncol
; 24(1): 91-106, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36436516
11.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36744544
12.
Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(10): 100870, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37490054
13.
Surgical decision making in premenopausal BRCA carriers considering risk-reducing early salpingectomy or salpingo-oophorectomy: a qualitative study.
J Med Genet
; 59(2): 122-132, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33568437
14.
'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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37705192
15.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35184155
16.
Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK).
Genet Med
; 24(9): 1867-1877, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35657381
17.
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Genet Med
; 24(3): 552-563, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34906453
18.
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Genet Med
; 24(1): 41-50, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34906457
19.
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations.
J Med Genet
; 58(5): 297-304, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33208383
20.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34678156