Detalhe da pesquisa
1.
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.
N Engl J Med
; 384(5): 428-439, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33471991
2.
Association analysis identifies 65 new breast cancer risk loci.
Nature
; 551(7678): 92-94, 2017 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29059683
3.
Long-term risk of cancer among the first-degree relatives of epithelial ovarian cancer patients: A cohort study with 48 years of follow up.
Acta Obstet Gynecol Scand
; 102(3): 240-245, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36645194
4.
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
5.
Circulating tumor DNA is a prognostic biomarker in metastatic melanoma patients treated with chemoimmunotherapy and BRAF inhibitor.
Acta Oncol
; 61(10): 1263-1267, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36307938
6.
Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.
Genet Epidemiol
; 44(5): 442-468, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32115800
7.
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants.
Genet Med
; 22(10): 1653-1666, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32665703
8.
Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.
Am J Med Genet A
; 182(11): 2605-2610, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32902138
9.
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Hum Mutat
; 40(9): 1557-1578, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31131967
10.
Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients.
Int J Cancer
; 145(10): 2692-2700, 2019 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30927251
11.
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
12.
SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy.
Am J Med Genet A
; 179(7): 1362-1365, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31059209
13.
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
Hum Mutat
; 39(5): 729-741, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29460995
14.
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Hum Mutat
; 39(5): 593-620, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29446198
15.
Breast-cancer risk in families with mutations in PALB2.
N Engl J Med
; 371(6): 497-506, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25099575
16.
FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population.
Breast Cancer Res Treat
; 166(1): 217-226, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28702895
17.
Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.
Breast Cancer Res Treat
; 161(1): 117-134, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27796716
18.
Genetic modifiers of CHEK2*1100delC-associated breast cancer risk.
Genet Med
; 19(5): 599-603, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27711073
19.
CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population.
BMC Cancer
; 17(1): 620, 2017 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28874143
20.
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
J Med Genet
; 53(5): 298-309, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26921362