Detalhe da pesquisa
1.
Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers.
J Med Genet
; 2024 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38834293
2.
Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families.
Genet Med
; : 101171, 2024 May 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38828701
3.
Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases.
J Med Genet
; 60(4): 327-336, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36137616
4.
Breast cancer genomes from CHEK2 c.1100delC mutation carriers lack somatic TP53 mutations and display a unique structural variant size distribution profile.
Breast Cancer Res
; 25(1): 53, 2023 05 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37161532
5.
Association analysis identifies 65 new breast cancer risk loci.
Nature
; 551(7678): 92-94, 2017 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29059683
6.
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.
Am J Hum Genet
; 104(1): 21-34, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30554720
7.
Prediction of contralateral breast cancer: external validation of risk calculators in 20 international cohorts.
Breast Cancer Res Treat
; 181(2): 423-434, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32279280
8.
Prediction and clinical utility of a contralateral breast cancer risk model.
Breast Cancer Res
; 21(1): 144, 2019 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31847907
9.
Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers.
Br J Cancer
; 121(2): 180-192, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31213659
10.
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
J Med Genet
; 55(1): 15-20, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28490613
11.
Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers.
JAMA
; 317(23): 2402-2416, 2017 06 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28632866
12.
Outcome of ovarian cancer after breast cancer in BRCA1 and BRCA2 mutation carriers.
Br J Cancer
; 115(10): 1174-1178, 2016 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27755534
13.
A novel splice site mutation in the noncoding region of BRCA2: implications for Fanconi anemia and familial breast cancer diagnostics.
Hum Mutat
; 35(4): 442-6, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24395671
14.
The benefit of adding polygenic risk scores, lifestyle factors, and breast density to family history and genetic status for breast cancer risk and surveillance classification of unaffected women from germline CHEK2 c.1100delC families.
Breast
; 73: 103611, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38039887
15.
Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases.
Cancers (Basel)
; 15(13)2023 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37444426
16.
CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women.
J Med Genet
; 48(12): 860-3, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22058428
17.
Challenges in breast cancer genetic testing. A call for novel forms of multidisciplinary care and long-term evaluation.
Crit Rev Oncol Hematol
; 176: 103642, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35257886
18.
Effects of chemotherapy on contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers: A nationwide cohort study.
Breast
; 61: 98-107, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34929424
19.
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Genome Med
; 14(1): 51, 2022 05 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35585550
20.
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Cancers (Basel)
; 14(14)2022 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35884425