Detalhe da pesquisa
1.
UK recommendations for SDHA germline genetic testing and surveillance in clinical practice.
J Med Genet
; 60(2): 107-111, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35260474
2.
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
3.
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
4.
Results from London Regional Clinical Genetics services over a 5-year period on germline TP53 testing in women diagnosed with breast cancer at <30 years.
J Med Genet
; 59(6): 554-558, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34266904
5.
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
6.
A practical guide to genetic testing in endocrinology.
Clin Endocrinol (Oxf)
; 97(4): 388-399, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34528717
7.
Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort.
Clin Endocrinol (Oxf)
; 97(4): 448-459, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34870338
8.
SDHC phaeochromocytoma and paraganglioma: A UK-wide case series.
Clin Endocrinol (Oxf)
; 96(4): 499-512, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34558728
9.
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
10.
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
11.
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.
Genet Med
; 23(9): 1726-1737, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113011
12.
Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study.
Am J Obstet Gynecol
; 225(1): 51.e1-51.e17, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33493488
13.
UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants.
J Med Genet
; 2020 Jun 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32571901
14.
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.
J Med Genet
; 57(12): 829-834, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32170000
15.
Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY).
J Med Genet
; 57(4): 226-236, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31719169
16.
Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res
; 22(1): 8, 2020 01 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-31948486
17.
Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res
; 22(1): 25, 2020 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32102695
18.
Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort.
Clin Endocrinol (Oxf)
; 93(4): 409-418, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32430905
19.
Imaging Features of Succinate Dehydrogenase-deficient Pheochromocytoma-Paraganglioma Syndromes.
Radiographics
; 39(5): 1393-1410, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31498738
20.
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