Detalhe da pesquisa
1.
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
Cell
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Artigo
em Inglês
| MEDLINE | ID: mdl-20074521
2.
Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers.
BMC Cancer
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Artigo
em Inglês
| MEDLINE | ID: mdl-35761208
3.
TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge.
Arch Gynecol Obstet
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Artigo
em Inglês
| MEDLINE | ID: mdl-33245408
4.
Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.
Breast Cancer Res
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Artigo
em Inglês
| MEDLINE | ID: mdl-31036035
5.
Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation.
Am J Hum Genet
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Artigo
em Inglês
| MEDLINE | ID: mdl-27640304
6.
High-risk breast cancer surveillance with MRI: 10-year experience from the German consortium for hereditary breast and ovarian cancer.
Breast Cancer Res Treat
; 175(1): 217-228, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30725383
7.
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
Hum Mutat
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em Inglês
| MEDLINE | ID: mdl-29460995
8.
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
Breast Cancer Res
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Artigo
em Inglês
| MEDLINE | ID: mdl-29368626
9.
An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression.
Hum Mol Genet
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em Inglês
| MEDLINE | ID: mdl-27402876
10.
Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression.
Am J Hum Genet
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em Inglês
| MEDLINE | ID: mdl-26073781
11.
Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history.
BMC Cancer
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Artigo
em Inglês
| MEDLINE | ID: mdl-29514593
12.
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
13.
Genetic modifiers of CHEK2*1100delC-associated breast cancer risk.
Genet Med
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em Inglês
| MEDLINE | ID: mdl-27711073
14.
Prevalence of BRCA1/2 germline mutations in 21â 401 families with breast and ovarian cancer.
J Med Genet
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em Inglês
| MEDLINE | ID: mdl-26928436
15.
Genetic predisposition to ductal carcinoma in situ of the breast.
Breast Cancer Res
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em Inglês
| MEDLINE | ID: mdl-26884359
16.
Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade.
Hum Mol Genet
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Artigo
em Inglês
| MEDLINE | ID: mdl-24927736
17.
Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium.
Hum Genet
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em Inglês
| MEDLINE | ID: mdl-26621531
18.
Identification of BRCA1-like triple-negative breast cancers by quantitative multiplex-ligation-dependent probe amplification (MLPA) analysis of BRCA1-associated chromosomal regions: a validation study.
BMC Cancer
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em Inglês
| MEDLINE | ID: mdl-27756336
19.
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
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em Inglês
| MEDLINE | ID: mdl-25857409
20.
Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study.
Breast Cancer Res
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Artigo
em Inglês
| MEDLINE | ID: mdl-24887515