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A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes

American journal of human genetics, 2007-11, Vol.81 (5), p.873-883

2007

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A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

Human mutation, 2012-01, Vol.33 (1), p.8-21

2012

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Effects of long-term norepinephrine treatment on normal immortalized ovarian and fallopian tube cells

Scientific reports, 2021-07, Vol.11 (1), p.14334-12, Article 14334

2021

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Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay

Scientific reports, 2022-09, Vol.12 (1), p.16203-16203, Article 16203

2022

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Principles for the post-GWAS functional characterization of cancer risk loci

Nature genetics, 2011-06, Vol.43 (6), p.513-518

2011

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Incorporating computational resources in a cancer research program

Human genetics, 2015-05, Vol.134 (5), p.467-478

2015

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A multigene mutation classification of 468 colorectal cancers reveals a prognostic role for APC

Nature communications, 2016-06, Vol.7 (1), p.11743-11743, Article 11743

2016

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An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance

Npj genomic medicine, 2022-06, Vol.7 (1), p.35-35, Article 35

2022

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Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis

Cancer research (Chicago, Ill.), 2007-02, Vol.67 (4), p.1494-1501

2007

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Functional impact of missense variants in BRCA1 predicted by supervised learning

PLoS computational biology, 2007-02, Vol.3 (2), p.e26-e26

2007

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Evidence for a Transcriptional Activation Function of BRCA1 C-Terminal Region

Proceedings of the National Academy of Sciences - PNAS, 1996-11, Vol.93 (24), p.13595-13599

1996

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Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models

Genetics in medicine, 2019-01, Vol.21 (1), p.71-80

2019

Volltextzugriff (PDF)

Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1

PloS one, 2014-05, Vol.9 (5), p.e97766

2014

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A high frequency of BRCA mutations in young black women with breast cancer residing in Florida

Cancer, 2015-12, Vol.121 (23), p.4173-4180

2015

Volltextzugriff (PDF)

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

Human mutation, 2012-01, Vol.33 (1), p.2-7

2012

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Norepinephrine-Induced DNA Damage in Ovarian Cancer Cells

International journal of molecular sciences, 2020-03, Vol.21 (6), p.2250

2020

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Functional characterization of 84 PALB2 variants of uncertain significance

Genetics in medicine, 2020-03, Vol.22 (3), p.622-632

2020

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Two distinct mechanisms underlie estrogen-receptor-negative breast cancer susceptibility at the 2p23.2 locus

European journal of human genetics : EJHG, 2022-04, Vol.30 (4), p.465-473

2022

Volltextzugriff (PDF)

Comprehensive Analysis of Missense Variations in the BRCT Domain of BRCA1 by Structural and Functional Assays

Cancer research (Chicago, Ill.), 2010-06, Vol.70 (12), p.4880-4890

2010

Volltextzugriff (PDF)

Functional Assays for Analysis of Variants of Uncertain Significance in BRCA2

Human mutation, 2014-02, Vol.35 (2), p.151-164

2014

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Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance

Genetics in medicine, 2021-02, Vol.23 (2), p.306-315

2021

Volltextzugriff (PDF)

Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil

Breast cancer research and treatment, 2007-07, Vol.103 (3), p.349-353

2007

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Integrated Evaluation of DNA Sequence Variants of Unknown Clinical Significance: Application to BRCA1 and BRCA2

American journal of human genetics, 2004-10, Vol.75 (4), p.535-544

2004

Volltextzugriff (PDF)

Functional Restoration of BRCA1 Nonsense Mutations by Aminoglycoside-Induced Readthrough

Frontiers in pharmacology, 2022-06, Vol.13, p.935995-935995

2022

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A guide for functional analysis of BRCA1 variants of uncertain significance

Human mutation, 2012-11, Vol.33 (11), p.1526-1537

2012

Volltextzugriff (PDF)

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A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

Effects of long-term norepinephrine treatment on normal immortalized ovarian and fallopian tube cells

Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay

Principles for the post-GWAS functional characterization of cancer risk loci

Incorporating computational resources in a cancer research program

A multigene mutation classification of 468 colorectal cancers reveals a prognostic role for APC

An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance

Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis

Functional impact of missense variants in BRCA1 predicted by supervised learning

Evidence for a Transcriptional Activation Function of BRCA1 C-Terminal Region

Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models

Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1

A high frequency of BRCA mutations in young black women with breast cancer residing in Florida

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

Norepinephrine-Induced DNA Damage in Ovarian Cancer Cells

Functional characterization of 84 PALB2 variants of uncertain significance

Two distinct mechanisms underlie estrogen-receptor-negative breast cancer susceptibility at the 2p23.2 locus

Comprehensive Analysis of Missense Variations in the BRCT Domain of BRCA1 by Structural and Functional Assays

Functional Assays for Analysis of Variants of Uncertain Significance in BRCA2

Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance

Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil

Integrated Evaluation of DNA Sequence Variants of Unknown Clinical Significance: Application to BRCA1 and BRCA2

Functional Restoration of BRCA1 Nonsense Mutations by Aminoglycoside-Induced Readthrough

A guide for functional analysis of BRCA1 variants of uncertain significance

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