0000000000940628

AUTHOR

Eric Hahnen

showing 14 related works from this author

Additional file 5: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Pathology of invasive BRCA1 female and male breast tumours and ORs in predicting male BRCA1 mutation carrier status. (DOCX 19 kb)

endocrine system diseasesskin and connective tissue diseases3. Good health
researchProduct

Additional file 1: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Male BRCA1 and BRCA2 mutation carriers by study group/country. (DOCX 21 kb)

endocrine system diseasesskin and connective tissue diseasesneoplasmsfemale genital diseases and pregnancy complications3. Good health
researchProduct

Additional file 4: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Pathology of BRCA1 and BRCA2 MBCs and ORs in predicting BRCA2 mutation carrier status. (DOCX 20 kb)

endocrine system diseasespolycyclic compoundsskin and connective tissue diseasesneoplasmsfemale genital diseases and pregnancy complications3. Good health
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Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer

2019

Background The role of the BARD1 gene in breast cancer (BC) and ovarian cancer (OC) predisposition remains elusive, as published case-control investigations have revealed controversial results. We aimed to assess the role of deleterious BARD1 germline variants in BC/OC predisposition in a sample of 4920 BRCA1/2-negative female BC/OC index patients of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC). Methods A total of 4469 female index patients with BC, 451 index patients with OC, and 2767 geographically matched female control individuals were screened for loss-of-function (LoF) mutations and potentially damaging rare missense variants in BARD1. All patients met the …

OncologyGermline0302 clinical medicineLoss of Function MutationSurgical oncologyOdds RatioPrevalenceMissense mutation030212 general & internal medicineAge of Onset10. No inequalityExomeEarly onset breast cancerAged 80 and overOvarian NeoplasmsBARD1 GeneHigh-Throughput Nucleotide SequencingMiddle Agedlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens3. Good health030220 oncology & carcinogenesisFemaleTechnology PlatformsResearch ArticleAdultmedicine.medical_specialtyAdolescentUbiquitin-Protein Ligases610Breast Neoplasmslcsh:RC254-282Young Adult03 medical and health sciencesGermline mutationBreast cancerOvarian cancerInternal medicinemedicineBARD1HumansGenetic Predisposition to DiseaseGermline mutationsGenetic Association StudiesGerm-Line MutationAgedbusiness.industryTumor Suppressor ProteinsOdds ratiomedicine.diseaseConfidence intervalBARD1; Early onset breast cancer; Germline mutations; Ovarian cancerOvarian cancerbusiness
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Additional file 3: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Methods and thresholds used to define the final marker variables for study groups providing MBC cases. (DOCX 20 kb)

3. Good health
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Additional file 2: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

List of local ethics committees that granted approval for the access and use of the data in present study. (DOCX 23 kb)

3. Good health
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Additional file 6: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Pathology of invasive MBCs in the general population from SEER and BRCA1 MBCs and ORs in predicting male BRCA1 mutation carrier status. (DOCX 19 kb)

polycyclic compoundsbacteriabiochemical phenomena metabolism and nutritionbacterial infections and mycosesskin and connective tissue diseases3. Good health
researchProduct

Additional file 3: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Methods and thresholds used to define the final marker variables for study groups providing MBC cases. (DOCX 20 kb)

3. Good health
researchProduct

Additional file 2: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

List of local ethics committees that granted approval for the access and use of the data in present study. (DOCX 23 kb)

3. Good health
researchProduct

Additional file 1: of Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian can…

2019

Table S1. Inclusion criteria of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) for BRCA1 and BRCA2 germline testing. Table S2. Genotype, phenotype and cancer family history of familial BC index patients carrying heterozygous germline loss-of-function (LoF) variants in the BARD1 gene (transcript NM_000465.3). Table S3. Prevalence of heterozygous germline LoF variants identified in the BARD1 gene (transcript NM_000465.3). Table S4. Potentially damaging rare missense variants identified in the BARD1 gene (transcript NM_000465.3). (DOCX 76 kb)

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Additional file 1: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Male BRCA1 and BRCA2 mutation carriers by study group/country. (DOCX 21 kb)

endocrine system diseasesskin and connective tissue diseasesneoplasmsfemale genital diseases and pregnancy complications3. Good health
researchProduct

Additional file 4: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Pathology of BRCA1 and BRCA2 MBCs and ORs in predicting BRCA2 mutation carrier status. (DOCX 20 kb)

endocrine system diseasespolycyclic compoundsskin and connective tissue diseasesneoplasmsfemale genital diseases and pregnancy complications3. Good health
researchProduct

Additional file 5: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Pathology of invasive BRCA1 female and male breast tumours and ORs in predicting male BRCA1 mutation carrier status. (DOCX 19 kb)

endocrine system diseasesskin and connective tissue diseases3. Good health
researchProduct

Additional file 6: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Pathology of invasive MBCs in the general population from SEER and BRCA1 MBCs and ORs in predicting male BRCA1 mutation carrier status. (DOCX 19 kb)

polycyclic compoundsbacteriabiochemical phenomena metabolism and nutritionbacterial infections and mycosesskin and connective tissue diseases3. Good health
researchProduct