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AB033. P003. Identification of germline mutations in cancer predisposition genes in patients with a personal and/or family history of pancreatic cancer

Annals of Pancreatic Cancer, 2018-04, Vol.1 (1), p.AB033-AB033

2018

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Accurate detection and quantification of epigenetic and genetic second hits in BRCA1 and BRCA2-associated hereditary breast and ovarian cancer reveals multiple co-acting second hits

Cancer letters, 2018-07, Vol.425, p.125-133

2018

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Analysing 454 amplicon resequencing experiments using the modular and database oriented Variant Identification Pipeline

BMC bioinformatics, 2010-05, Vol.11 (1), p.269-269, Article 269

2010

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Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay

Oncology reports, 2017-03, Vol.37 (3), p.1379-1386

2017

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Analysis of the Novel Fanconi Anemia Gene SLX4/FANCP in Familial Breast Cancer Cases

Human mutation, 2013-01, Vol.34 (1), p.70-73

2013

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Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes

Human mutation, 2011-09, Vol.32 (9), p.1053-1062

2011

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BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

Human mutation, 2018-12, Vol.39 (12), p.2025-2039

2018

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Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

JNCI : Journal of the National Cancer Institute, 2022-01, Vol.114 (1), p.109-122

2022

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Breast-Cancer Risk in Families With Mutations in PALB2

Obstetrical & gynecological survey, 2014-11, Vol.69 (11), p.659-660

2014

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Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

Clinical chemistry (Baltimore, Md.), 2014-02, Vol.60 (2), p.341-352

2014

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CRISPR-SID: Identifying EZH2 as a druggable target for desmoid tumors via in vivo dependency mapping

Proceedings of the National Academy of Sciences - PNAS, 2021-11, Vol.118 (47), p.1-12

2021

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Dealing with pseudogenes in molecular diagnostics in the next-generation sequencing era

Methods in molecular biology (Clifton, N.J.), 2014-01, Vol.1167, p.303

2014

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Diagnosis of Fanconi Anaemia by ionising radiation- or mitomycin C-induced micronuclei

DNA repair, 2018-01, Vol.61, p.17-24

2018

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ENIGMA CHEK2 gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Clinical cancer research, 2023-08, Vol.29 (16), p.3037-3050

2023

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ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Clinical cancer research, 2023-08, Vol.29 (16), p.3037-3050

2023

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Evaluation of relative quantification of alternatively spliced transcripts using droplet digital PCR

Biomolecular detection and quantification, 2017-09, Vol.13, p.40-48

2017

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Flexible, Scalable, and Efficient Targeted Resequencing on a Benchtop Sequencer for Variant Detection in Clinical Practice

Human mutation, 2015-03, Vol.36 (3), p.379-387

2015

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Genotyping of Frequent BRCA1/2 SNPs with Unlabeled Probes

The Journal of molecular diagnostics : JMD, 2009, Vol.11 (5), p.415-419

2009

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Genotyping of Frequent BRCA1/2 SNPs with Unlabeled Probes: A Supplement to HRMCA Mutation Scanning, Allowing the Strong Reduction of Sequencing Burden

The Journal of molecular diagnostics : JMD, 2009-09, Vol.11 (5), p.415-419

2009

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Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer

Cancers, 2020-08, Vol.12 (8), p.2151

2020

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Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation

Breast cancer research : BCR, 2016-05, Vol.18 (1), p.52-52, Article 52

2016

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Massive parallel amplicon sequencing of the breast cancer genes BRCA1&2 : opportunities, challenges and limitations

Human mutation, 2011-02, Vol.32 (3)

2011

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Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations

Human mutation, 2011-03, Vol.32 (3), p.335-344

2011

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Non Coding RNA Molecules as Potential Biomarkers in Breast Cancer

Advances in experimental medicine and biology, 2015, Vol.867, p.263

2015

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AB033. P003. Identification of germline mutations in cancer predisposition genes in patients with a personal and/or family history of pancreatic cancer

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Accurate detection and quantification of epigenetic and genetic second hits in BRCA1 and BRCA2-associated hereditary breast and ovarian cancer reveals multiple co-acting second hits

Analysing 454 amplicon resequencing experiments using the modular and database oriented Variant Identification Pipeline

Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay

Analysis of the Novel Fanconi Anemia Gene SLX4/FANCP in Familial Breast Cancer Cases

Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes

BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

Breast-Cancer Risk in Families With Mutations in PALB2

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

CRISPR-SID: Identifying EZH2 as a druggable target for desmoid tumors via in vivo dependency mapping

Dealing with pseudogenes in molecular diagnostics in the next-generation sequencing era

Diagnosis of Fanconi Anaemia by ionising radiation- or mitomycin C-induced micronuclei

ENIGMA CHEK2 gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Evaluation of relative quantification of alternatively spliced transcripts using droplet digital PCR

Flexible, Scalable, and Efficient Targeted Resequencing on a Benchtop Sequencer for Variant Detection in Clinical Practice

Genotyping of Frequent BRCA1/2 SNPs with Unlabeled Probes

Genotyping of Frequent BRCA1/2 SNPs with Unlabeled Probes: A Supplement to HRMCA Mutation Scanning, Allowing the Strong Reduction of Sequencing Burden

Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer

Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation

Massive parallel amplicon sequencing of the breast cancer genes BRCA1&2 : opportunities, challenges and limitations

Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations

Non Coding RNA Molecules as Potential Biomarkers in Breast Cancer

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