Detalhe da pesquisa
1.
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
2.
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel.
J Med Genet
; 60(12): 1186-1197, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37451831
3.
Validation of lung cancer polygenic risk scores in a high-risk case-control cohort.
Genet Med
; 25(8): 100882, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37154150
4.
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
5.
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
6.
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
7.
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
8.
A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer.
Am J Hum Genet
; 103(2): 213-220, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30075112
9.
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
10.
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
11.
Breast cancer pathology and stage are better predicted by risk stratification models that include mammographic density and common genetic variants.
Breast Cancer Res Treat
; 176(1): 141-148, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30941651
12.
Breast cancer polygenic risk scores derived in White European populations are not calibrated for women of Ashkenazi Jewish descent.
Genet Med
; 25(10): 100963, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37650883
13.
The impact of a panel of 18 SNPs on breast cancer risk in women attending a UK familial screening clinic: a case-control study.
J Med Genet
; 54(2): 111-113, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27794048
14.
The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes.
Hum Mutat
; 37(3): 250-6, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26615784
15.
Relationship of ZNF423 and CTSO with breast cancer risk in two randomised tamoxifen prevention trials.
Breast Cancer Res Treat
; 158(3): 591-6, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27400912
16.
Association of a promoter polymorphism in FSHR with ovarian reserve and response to ovarian stimulation in women undergoing assisted reproductive treatment.
Reprod Biomed Online
; 33(3): 391-7, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27448492
17.
AMH type II receptor and AMH gene polymorphisms are not associated with ovarian reserve, response, or outcomes in ovarian stimulation.
J Assist Reprod Genet
; 33(8): 1085-91, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27142041
18.
G6PC3 mutations cause non-syndromic severe congenital neutropenia.
Mol Genet Metab
; 108(2): 138-41, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23298686
19.
FSH receptor genotype does not predict metaphase-II oocyte output or fertilization rates in ICSI patients.
Reprod Biomed Online
; 27(3): 305-9, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23876973
20.
Estimating the Cost of 3 Risk Prediction Strategies for Potential Use in the United Kingdom National Breast Screening Program.
MDM Policy Pract
; 8(1): 23814683231171363, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37152662