Detalhe da pesquisa
1.
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.
Genet Med
; 24(1): 119-129, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906479
2.
Pitfalls in variant annotation for hereditary cancer diagnostics: The example of Illumina® VariantStudio®.
Genomics
; 113(1 Pt 2): 748-754, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33053411
3.
CanVaS: Documenting the genetic variation spectrum of Greek cancer patients.
Hum Mutat
; 42(9): 1081-1093, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34174131
4.
Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant.
Hum Mutat
; 42(5): 592-599, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33600035
5.
One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.
J Med Genet
; 57(1): 53-61, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31300551
6.
BRCA1 and BRCA2 germline testing in Cretan isolates reveals novel and strong founder effects.
Int J Cancer
; 147(5): 1334-1342, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32022259
7.
Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system.
Hum Mutat
; 40(5): 631-648, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30851065
8.
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.
Hum Mutat
; 40(11): e1-e23, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31209999
9.
PALB2 c.2257C>T truncating variant is a Greek founder and is associated with high breast cancer risk.
J Hum Genet
; 64(8): 767-773, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31089269
10.
Germline deleterious mutations in genes other than BRCA2 are infrequent in male breast cancer.
Breast Cancer Res Treat
; 169(1): 105-113, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29335925
11.
Contribution of RAD51D germline mutations in breast and ovarian cancer in Greece.
J Hum Genet
; 63(11): 1149-1158, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30111881
12.
Characterization and prevalence of two novel CHEK2 large deletions in Greek breast cancer patients.
J Hum Genet
; 63(8): 877-886, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29785007
13.
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
14.
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.
Genet Med
; 24(10): 2208, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36205748
15.
Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade.
Hum Mol Genet
; 23(22): 6034-46, 2014 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24927736
16.
Genes associated with histopathologic features of triple negative breast tumors predict molecular subtypes.
Breast Cancer Res Treat
; 157(1): 117-31, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27083182
17.
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
PLoS Genet
; 9(3): e1003212, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23544013
18.
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.
Breast Cancer Res
; 17: 61, 2015 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-25925750
19.
Epidemiological and clinicopathological characteristics of BRCA-positive and BRCA-negative breast cancer patients in Greece.
J BUON
; 20(4): 978-84, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26416046
20.
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.
Carcinogenesis
; 35(5): 1012-9, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24325915