Detalhe da pesquisa
1.
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.
Am J Hum Genet
; 98(5): 830-842, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27087319
2.
Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.
J Med Genet
; 53(1): 34-42, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26534844
3.
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk.
PLoS Genet
; 9(3): e1003173, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23544012
4.
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
5.
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
6.
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.
JAMA
; 313(13): 1347-61, 2015 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25849179
7.
Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.
Breast Cancer Res
; 16(6): 3419, 2014 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-25857409
8.
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res
; 16(6): 3416, 2014 Dec 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-25919761
9.
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.
Hum Mol Genet
; 20(16): 3304-21, 2011 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21593217
10.
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.
Hum Mol Genet
; 20(23): 4732-47, 2011 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21890493
11.
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
J Med Genet
; 49(8): 525-32, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22889855
12.
Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.
PLoS Genet
; 6(10): e1001183, 2010 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-21060860
13.
ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes.
Hum Mutat
; 33(1): 2-7, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21990146
14.
Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.
Hum Mutat
; 33(4): 690-702, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22253144
15.
Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers.
Breast Cancer Res
; 14(2): R63, 2012 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-22513257
16.
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers.
Breast Cancer Res
; 14(1): R33, 2012 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-22348646
17.
Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.
Am J Hum Genet
; 85(4): 427-46, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19781682
18.
The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res Treat
; 132(3): 1119-26, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22212556
19.
Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers.
Breast Cancer Res Treat
; 136(1): 295-302, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23011509
20.
Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer.
JAMA
; 307(4): 382-90, 2012 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-22274685