The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal.
about
A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancerNew challenges for BRCA testing: a view from the diagnostic laboratoryGermline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian PopulationAn entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predispositionA mobile threat to genome stability: The impact of non-LTR retrotransposons upon the human genome.Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): delimitation and mechanism of three novel BRCA1 rearrangements.Analysis of Founder Mutations in Rare Tumors Associated With Hereditary Breast/Ovarian Cancer Reveals a Novel Association of BRCA2 Mutations with Ampulla of Vater Carcinomas.Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry.Characterization of four novel BRCA2 large genomic rearrangements in Spanish breast/ovarian cancer families: review of the literature, and reevaluation of the genetic mechanisms involved in their origin.The role of germline mutations in the BRCA1/2 and mismatch repair genes in men ascertained for early-onset and/or familial prostate cancer.A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.Large BRCA1 and BRCA2 genomic rearrangements in Polish high-risk breast and ovarian cancer families.Systematic detection of pathogenic alu element insertions in NGS-based diagnostic screens: the BRCA1/BRCA2 example.Mutations in context: implications of BRCA testing in diverse populations.The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry.Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.Portuguese c.156_157insAlu BRCA2 founder mutation: gastrointestinal and tongue neoplasias may be part of the phenotype.After Angelina and the Supreme Court Decision, where do we go from here? BRCA gene testing in Rhode Island's Portuguese population.Rapid detection of copy number variations and point mutations in genes using a single workflow by ion semiconductor sequencing pipeline
P2860
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P2860
The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh-hant
name
The c.156_157insAlu BRCA2 rear ...... in northern/central Portugal.
@en
The c.156_157insAlu BRCA2 rear ...... in northern/central Portugal.
@nl
type
label
The c.156_157insAlu BRCA2 rear ...... in northern/central Portugal.
@en
The c.156_157insAlu BRCA2 rear ...... in northern/central Portugal.
@nl
prefLabel
The c.156_157insAlu BRCA2 rear ...... in northern/central Portugal.
@en
The c.156_157insAlu BRCA2 rear ...... in northern/central Portugal.
@nl
P2093
P50
P1476
The c.156_157insAlu BRCA2 rear ...... in northern/central Portugal.
@en
P2093
Deolinda Pereira
Fernando Castro
Helena Rodrigues
Joaquim Abreu
Sofia Príncipe
P2888
P356
10.1007/S10549-008-9978-4
P407
P50
P577
2008-03-25T00:00:00Z