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Classifications within molecular subtypes enables identification of BRCA1/BRCA2 mutation carriers by RNA tumor profiling

PloS one, 2013-05, Vol.8 (5), p.e64268-e64268

2013

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Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant

Breast cancer research : BCR, 2024-01, Vol.26 (1), p.6-6, Article 6

2024

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Collection of Blood, Saliva, and Buccal Cell Samples in a Pilot Study on the Danish Nurse Cohort: Comparison of the Response Rate and Quality of Genomic DNA

Cancer epidemiology, biomarkers & prevention, 2007-10, Vol.16 (10), p.2072-2076

2007

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Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer

Breast cancer research and treatment, 2016-01, Vol.155 (2), p.215-222

2016

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Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

Breast cancer research and treatment, 2012-04, Vol.132 (3), p.1009-1023

2012

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Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic

Breast cancer research and treatment, 2015-04, Vol.150 (2), p.289-298

2015

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Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes

PLoS genetics, 2020-12, Vol.16 (12), p.e1009231-e1009231

2020

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Adeno-associated viral vector-induced overexpression of neuropeptide Y Y2 receptors in the hippocampus suppresses seizures

Brain (London, England : 1878), 2010-09, Vol.133 (9), p.2778-2788

2010

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Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition

PloS one, 2015-03, Vol.10 (3), p.e0122662-e0122662

2015

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Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families

Breast cancer research and treatment, 2009-05, Vol.115 (2), p.315-323

2009

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Classification of MSH6 Variants of Uncertain Significance Using Functional Assays

International journal of molecular sciences, 2021-08, Vol.22 (16), p.8627

2021

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A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families

Hereditary cancer in clinical practice, 2020-04, Vol.18 (1), p.8-6, Article 8

2020

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Prophylactic total gastrectomy in hereditary diffuse gastric cancer: identification of two novel CDH1 gene mutations—a clinical observational study

Familial cancer, 2014-06, Vol.13 (2), p.231-242

2014

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IGF2 mRNA-binding protein 2: biological function and putative role in type 2 diabetes

Journal of molecular endocrinology, 2009-11, Vol.43 (5), p.187-195

2009

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silent mutation nucleotide 744 G → A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping

Breast cancer research and treatment, 2010-02, Vol.119 (3), p.547-550

2010

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IMP3 RNP Safe Houses Prevent miRNA-Directed HMGA2 mRNA Decay in Cancer and Development

Cell reports (Cambridge), 2014-04, Vol.7 (2), p.539-551

2014

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BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population

Familial cancer, 2016-10, Vol.15 (4), p.507-512

2016

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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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The biology of cholecystokinin and gastrin peptides

Current topics in medicinal chemistry, 2007-06, Vol.7 (12), p.1154

2007

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MicroRNA dysregulation in adenoid cystic carcinoma of the salivary gland in relation to prognosis and gene fusion status: a cohort study

Virchows Archiv : an international journal of pathology, 2018-09, Vol.473 (3), p.329-340

2018

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Control of Fetal Growth and Neonatal Survival by the RasGAP-Associated Endoribonuclease G3BP

Molecular and Cellular Biology, 2005-10, Vol.25 (19), p.8703-8716

2005

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Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations

Familial cancer, 2015-03, Vol.14 (1), p.129-133

2015

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common Greenlandic Inuit BRCA1 RING domain founder mutation

Breast cancer research and treatment, 2009-05, Vol.115 (1), p.69-76

2009

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Identification of a novel BRCA1 nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer

Breast cancer research and treatment, 2010-11, Vol.124 (1), p.259-264

2010

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Classifications within molecular subtypes enables identification of BRCA1/BRCA2 mutation carriers by RNA tumor profiling

Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant

Collection of Blood, Saliva, and Buccal Cell Samples in a Pilot Study on the Danish Nurse Cohort: Comparison of the Response Rate and Quality of Genomic DNA

Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes

Adeno-associated viral vector-induced overexpression of neuropeptide Y Y2 receptors in the hippocampus suppresses seizures

Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition

Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families

Classification of MSH6 Variants of Uncertain Significance Using Functional Assays

A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families

Prophylactic total gastrectomy in hereditary diffuse gastric cancer: identification of two novel CDH1 gene mutations—a clinical observational study

Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

IGF2 mRNA-binding protein 2: biological function and putative role in type 2 diabetes

silent mutation nucleotide 744 G → A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping

IMP3 RNP Safe Houses Prevent miRNA-Directed HMGA2 mRNA Decay in Cancer and Development

BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population

Functional Assays for Analysis of Variants of Uncertain Significance in BRCA2

The biology of cholecystokinin and gastrin peptides

MicroRNA dysregulation in adenoid cystic carcinoma of the salivary gland in relation to prognosis and gene fusion status: a cohort study

Control of Fetal Growth and Neonatal Survival by the RasGAP-Associated Endoribonuclease G3BP

Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations

common Greenlandic Inuit BRCA1 RING domain founder mutation

Identification of a novel BRCA1 nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer

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