Detalhe da pesquisa
1.
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
2.
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
3.
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Hum Mol Genet
; 24(18): 5345-55, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26130695
4.
Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene.
Cancer
; 123(2): 210-218, 2017 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27648926
5.
Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.
Breast Cancer Res
; 18(1): 64, 2016 06 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-27459855
6.
CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment.
Hum Mutat
; 35(7): 828-40, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24659262
7.
Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.
Breast Cancer Res Treat
; 132(3): 1009-23, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21769658
8.
Polygenic risk modeling for prediction of epithelial ovarian cancer risk.
Eur J Hum Genet
; 30(3): 349-362, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35027648
9.
Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
Nat Commun
; 12(1): 2986, 2021 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-33990587
10.
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
Nat Commun
; 12(1): 1078, 2021 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597508
11.
Segregation analysis of the BRCA2 c.9227G>T variant in multiple families suggests a pathogenic role in breast and ovarian cancer predisposition.
Sci Rep
; 10(1): 13987, 2020 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32814805
12.
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.
Nat Genet
; 52(1): 56-73, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31911677
13.
Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.
Cancer Res
; 80(3): 624-638, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31723001
14.
DNA copy number alterations correlate with survival of esophageal adenocarcinoma patients.
Mod Pathol
; 22(1): 58-65, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18820669
15.
Functional impairment of p16(INK4A) due to CDKN2A p.Gly23Asp missense mutation.
Mutat Res
; 671(1-2): 26-32, 2009 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19712690
16.
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.
NPJ Breast Cancer
; 5: 38, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31700994
17.
Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk.
Eur J Hum Genet
; 30(5): 630-631, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35314806
18.
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
Nat Genet
; 49(12): 1767-1778, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29058716
19.
Establishment and characterization of xenografts and cancer cell cultures derived from BRCA1 -/- epithelial ovarian cancers.
Eur J Cancer
; 42(10): 1475-83, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16759848
20.
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.
Nat Commun
; 7: 11375, 2016 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-27117709