Detalhe da pesquisa
1.
Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.
Ann Oncol
; 33(12): 1318-1327, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36122798
2.
Young age at first pregnancy does protect against early onset breast cancer in BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res Treat
; 167(3): 779-785, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29116468
3.
Low prevalence of HER2 positivity amongst BRCA1 and BRCA2 mutation carriers and in primary BRCA screens.
Breast Cancer Res Treat
; 155(3): 597-601, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26888723
4.
The BRCA2 polymorphic stop codon: stuff or nonsense?
J Med Genet
; 52(9): 642-5, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26041759
5.
Improving the uptake of predictive testing and colorectal screening in Lynch syndrome: a regional primary care survey.
Clin Genet
; 87(6): 517-24, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25652327
6.
Colonoscopy screening compliance and outcomes in patients with Lynch syndrome.
Colorectal Dis
; 17(1): 38-46, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25213040
7.
Tumour MLH1 promoter region methylation testing is an effective prescreen for Lynch Syndrome (HNPCC).
J Med Genet
; 51(12): 789-96, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25280751
8.
Are women with pathogenic variants in PMS2 and MSH6 really at high lifetime risk of breast cancer?
Genet Med
; 21(8): 1878-1879, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30631111
9.
Is multiple SNP testing in BRCA2 and BRCA1 female carriers ready for use in clinical practice? Results from a large Genetic Centre in the UK.
Clin Genet
; 84(1): 37-42, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23050611
10.
Systematic review of the impact of registration and screening on colorectal cancer incidence and mortality in familial adenomatous polyposis and Lynch syndrome.
Br J Surg
; 100(13): 1719-31, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24227356
11.
Metachronous colorectal cancer risk in patients with a moderate family history.
Colorectal Dis
; 15(3): 309-16, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22943508
12.
Uptake of risk-reducing salpingo-oophorectomy in women carrying a BRCA1 or BRCA2 mutation: evidence for lower uptake in women affected by breast cancer and older women.
Br J Cancer
; 106(4): 775-9, 2012 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-22187038
13.
Familial breast cancer.
Clin Genet
; 82(2): 105-14, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22356477
14.
Genotype-phenotype correlation in colorectal polyposis.
Clin Genet
; 81(6): 521-31, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21696383
15.
Patient reported outcome measures in a cohort of patients at high risk of breast cancer treated by bilateral risk reducing mastectomy and breast reconstruction.
J Plast Reconstr Aesthet Surg
; 75(1): 69-76, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34219040
16.
Menopausal symptoms and bone health in women undertaking risk reducing bilateral salpingo-oophorectomy: significant bone health issues in those not taking HRT.
Br J Cancer
; 105(1): 22-7, 2011 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-21654687
17.
Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.
Br J Cancer
; 104(8): 1356-61, 2011 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21427728
18.
Risk of breast cancer in male BRCA2 carriers.
J Med Genet
; 47(10): 710-1, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20587410
19.
The impact of screening and genetic registration on mortality and colorectal cancer incidence in familial adenomatous polyposis.
Gut
; 59(10): 1378-82, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20660077
20.
Long-term outcomes of breast cancer in women aged 30 years or younger, based on family history, pathology and BRCA1/BRCA2/TP53 status.
Br J Cancer
; 102(7): 1091-8, 2010 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-20234365