Detalhe da pesquisa
1.
Germline testing of BRCA1, BRCA2, PALB2 and CHEK2 c.1100delC in 1514 triple negative familial and isolated breast cancers from a single centre, with extended testing of ATM, RAD51C and RAD51D in over 400.
J Med Genet
; 61(4): 385-391, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38123987
2.
TP53 c.455C>T p.(Pro152Leu) pathogenic variant is a lower risk allele with attenuated risks of breast cancer and sarcoma.
J Med Genet
; 60(11): 1057-1060, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37076289
3.
Detection of pathogenic variants in breast cancer susceptibility genes in bilateral breast cancer.
J Med Genet
; 60(10): 974-979, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37055167
4.
Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers.
J Med Genet
; 60(8): 740-746, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36442995
5.
A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to BRCA1 and BRCA2.
Hum Mutat
; 20232023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38725546
6.
Quantifying the effects of risk-stratified breast cancer screening when delivered in real time as routine practice versus usual screening: the BC-Predict non-randomised controlled study (NCT04359420).
Br J Cancer
; 128(11): 2063-2071, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37005486
7.
Breast cancer polygenic risk scores derived in White European populations are not calibrated for women of Ashkenazi Jewish descent.
Genet Med
; 25(9): 100846, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37061873
8.
Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers.
J Med Genet
; 59(2): 133-140, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33568438
9.
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.
J Med Genet
; 59(2): 115-121, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33758026
10.
Obesity at age 20 and weight gain during adulthood increase risk of total and premature all-cause mortality: findings from women attending breast screening in Manchester.
BMC Womens Health
; 23(1): 17, 2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36635680
11.
The importance of ethnicity: Are breast cancer polygenic risk scores ready for women who are not of White European origin?
Int J Cancer
; 150(1): 73-79, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34460111
12.
Breast cancer risk stratification in women of screening age: Incremental effects of adding mammographic density, polygenic risk, and a gene panel.
Genet Med
; 24(7): 1485-1494, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35426792
13.
Magnitude and attributed reasons for adult weight gain amongst women at increased risk of breast cancer.
BMC Womens Health
; 22(1): 447, 2022 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36371176
14.
Specialist oncological surgery for removal of the ovaries and fallopian tubes in BRCA1 and BRCA2 pathogenic variant carriers may reduce primary peritoneal cancer risk to very low levels.
Int J Cancer
; 148(5): 1155-1163, 2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33152107
15.
Breast cancer incidence and early diagnosis in a family history risk and prevention clinic: 33-year experience in 14,311 women.
Breast Cancer Res Treat
; 189(3): 677-687, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34312777
16.
Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer.
Genet Med
; 23(10): 1969-1976, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113003
17.
Uptake of pre-symptomatic testing for BRCA1 and BRCA2 is age, gender, offspring and time-dependent.
J Med Genet
; 2020 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32354797
18.
Mammographic density change in a cohort of premenopausal women receiving tamoxifen for breast cancer prevention over 5 years.
Breast Cancer Res
; 22(1): 101, 2020 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32993747
19.
A case-control evaluation of 143 single nucleotide polymorphisms for breast cancer risk stratification with classical factors and mammographic density.
Int J Cancer
; 146(8): 2122-2129, 2020 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31251818
20.
Correction: Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study.
Genet Med
; 22(1): 242, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31591510