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A randomized experimental study to test the effects of discussing uncertainty during cancer genetic counseling: different strategies, different outcomes?

European journal of human genetics : EJHG, 2021-05, Vol.29 (5), p.789-799

2021

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Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants

Proceedings of the National Academy of Sciences - PNAS, 2016-04, Vol.113 (15), p.4128-4133

2016

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Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

European journal of human genetics : EJHG, 2005-06, Vol.13 (6), p.731-741

2005

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‘We don’t know for sure’: discussion of uncertainty concerning multigene panel testing during initial cancer genetic consultations

Familial cancer, 2020-01, Vol.19 (1), p.65-76

2020

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Genetic Testing in Li-Fraumeni Syndrome: Uptake and Psychosocial Consequences

Journal of clinical oncology, 2010-06, Vol.28 (18), p.3008-3014

2010

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Chromosome 8q23.3 and 11q23.1 Variants Modify Colorectal Cancer Risk in Lynch Syndrome

Gastroenterology (New York, N.Y. 1943), 2009, Vol.136 (1), p.131-137

2009

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The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li -Fraumeni syndrome and related phenotypes

European journal of human genetics : EJHG, 2007-01, Vol.15 (1), p.110-114

2007

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A multicentre comparative prospective blinded analysis of EUS and MRI for screening of pancreatic cancer in high-risk individuals

Gut, 2016-09, Vol.65 (9), p.1505-1513

2016

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Behavioral and psychosocial effects of rapid genetic counseling and testing in newly diagnosed breast cancer patients: design of a multicenter randomized clinical trial

BMC cancer, 2011-01, Vol.11 (1), p.6-6, Article 6

2011

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High Rate of Mosaicism in Tuberous Sclerosis Complex

American journal of human genetics, 1999-06, Vol.64 (6), p.1632-1637

1999

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Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

JAMA : the journal of the American Medical Association, 2015-04, Vol.313 (13), p.1347

2015

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Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Nature genetics, 2015-04, Vol.47 (4), p.373-380

2015

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Prediction of breast cancer risk based on profiling with common genetic variants

JNCI : Journal of the National Cancer Institute, 2015-05, Vol.107 (5), p.1

2015

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Molecular characterization of novel germline deletions affecting SDHD and SDHC in pheochromocytoma and paraganglioma patients

Endocrine-related cancer, 2009-09, Vol.16 (3), p.929-937

2009

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Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Nature genetics, 2015-02, Vol.47 (2), p.164-171

2015

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Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Nature communications, 2019-04, Vol.10 (1), p.1741-18, Article 1741

2019

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PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

Journal of medical genetics, 2016-12, Vol.53 (12), p.800-811

2016

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Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

PLoS genetics, 2013, Vol.9 (3), p.e1003212-e1003212

2013

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Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

PLoS medicine, 2016-08, Vol.13 (8), p.e1002105

2016

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The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype

Hereditary cancer in clinical practice, 2009-02, Vol.7 (1), p.4-4, Article 4

2009

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Genome-wide association analysis identifies three new breast cancer susceptibility loci

Nature genetics, 2012-03, Vol.44 (3), p.312-318

2012

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Three-step site-directed mutagenesis screen identifies pathogenic MLH1 variants associated with Lynch syndrome

Journal of medical genetics, 2020-05, Vol.57 (5), p.308-315

2020

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Functional Variants at the 11q13 Risk Locus for Breast Cancer Regulate Cyclin D1 Expression through Long-Range Enhancers

American journal of human genetics, 2013-04, Vol.92 (4), p.489-503

2013

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TP53 germline mutation testing in 180 families suspected of Li–Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes

Journal of medical genetics, 2010-06, Vol.47 (6), p.421-428

2010

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No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

Journal of medical genetics, 2016-05, Vol.53 (5), p.298-309

2016

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A randomized experimental study to test the effects of discussing uncertainty during cancer genetic counseling: different strategies, different outcomes?

Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

‘We don’t know for sure’: discussion of uncertainty concerning multigene panel testing during initial cancer genetic consultations

Genetic Testing in Li-Fraumeni Syndrome: Uptake and Psychosocial Consequences

Chromosome 8q23.3 and 11q23.1 Variants Modify Colorectal Cancer Risk in Lynch Syndrome

The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li -Fraumeni syndrome and related phenotypes

A multicentre comparative prospective blinded analysis of EUS and MRI for screening of pancreatic cancer in high-risk individuals

Behavioral and psychosocial effects of rapid genetic counseling and testing in newly diagnosed breast cancer patients: design of a multicenter randomized clinical trial

High Rate of Mosaicism in Tuberous Sclerosis Complex

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Prediction of breast cancer risk based on profiling with common genetic variants

Molecular characterization of novel germline deletions affecting SDHD and SDHC in pheochromocytoma and paraganglioma patients

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype

Genome-wide association analysis identifies three new breast cancer susceptibility loci

Three-step site-directed mutagenesis screen identifies pathogenic MLH1 variants associated with Lynch syndrome

Functional Variants at the 11q13 Risk Locus for Breast Cancer Regulate Cyclin D1 Expression through Long-Range Enhancers

TP53 germline mutation testing in 180 families suspected of Li–Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

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