0000000000940627

AUTHOR

Doris Steinemann

showing 15 related works from this author

Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatri…

2017

Heritable predisposition is an important cause of cancer in children and adolescents. Although a large number of cancer predisposition genes and their associated syndromes and malignancies have already been described, it appears likely that there are more pediatric cancer patients in whom heritable cancer predisposition syndromes have yet to be recognized. In a consensus meeting in the beginning of 2016, we convened experts in Human Genetics and Pediatric Hematology/Oncology to review the available data, to categorize the large amount of information, and to develop recommendations regarding when a cancer predisposition syndrome should be suspected in a young oncology patient. This review su…

0301 basic medicineHistoryMedizinGene Expression0302 clinical medicineNeoplasm Proteins/geneticsNeoplasmsChildGenetics (clinical)Societies Medicalddc:618HematologyJuvenile myelomonocytic leukemiaCancer predispositionSyndromeFocus Groups21st Century3. Good healthNeoplasm Proteins030220 oncology & carcinogenesisHematologic NeoplasmsGenetic Testing/methodsmedicine.medical_specialtyAdolescentGenetics MedicalGenetic CounselingHistory 21st CenturyMedical/history/instrumentation/methodsFamilial adenomatous polyposis03 medical and health sciencesInternal medicineGeneticsmedicineHumansFocus Groups/methodsGenetic Predisposition to DiseaseGenetic TestingIntensive care medicineGenetic Counseling/ethicsbusiness.industryHematologic Neoplasms/diagnosis/genetics/pathologyCancermedicine.diseasePediatric cancerHuman genetics030104 developmental biologyLi–Fraumeni syndromeNeoplasms/diagnosis/genetics/pathologyMutationMedical/historySocietiesbusinessAmerican journal of medical genetics. Part A
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The CpG island methylator phenotype in breast cancer is associated with the lobular subtype

2014

Background: Aberrations in DNA methylation patterns are well-described in human malignancies. However, the existence of the ‘CpG island methylator phenotype’ (CIMP) in human breast cancer is still controversial. Materials & methods: Illumina's HumanMethylation 450K BeadChip was used to analyze genome-wide DNA methylation patterns. Chromosomal abnormalities were determined by array-based CGH. Results: Invasive lobular breast carcinomas exhibit the highest number of differentially methylated CpG sites and a strong inverse correlation of aberrant DNA hypermethylation and copy number alterations. Nine differentially methylated regions within seven genes discriminating the investigated subg…

GeneticsCancer ResearchCpG Island Methylator PhenotypeGene ExpressionCancerBreast NeoplasmsDNA MethylationBiologymedicine.diseaseEpigenesis GeneticPhenotypeDifferentially methylated regionsBreast cancerCpG siteTumor progressionCell Line TumorDNA methylationGeneticsCancer researchmedicineHumansCpG IslandsFemaleEpigeneticsEpigenomics
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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
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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
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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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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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Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

2014

Introduction More than 70 common alleles are known to be involved in breast cancer (BC) susceptibility, and several exhibit significant heterogeneity in their associations with different BC subtypes. Although there are differences in the association patterns between BRCA1 and BRCA2 mutation carriers and the general population for several loci, no study has comprehensively evaluated the associations of all known BC susceptibility alleles with risk of BC subtypes in BRCA1 and BRCA2 carriers. Methods We used data from 15,252 BRCA1 and 8,211 BRCA2 carriers to analyze the associations between approximately 200,000 genetic variants on the iCOGS array and risk of BC subtypes defined by estrogen re…

Cancer ResearchReceptor ErbB-2Genes BRCA2BRCALOCIGenes BRCA1MODIFIERSVARIANTSErbB-2610 Medical sciences MedicineDuctalReceptorsMedicine and Health SciencesINVESTIGATORSBreastskin and connective tissue diseasesProgesteroneMedicine(all)Carcinoma Ductal BreastMiddle AgedAdult; Aged; Alleles; Breast Neoplasms; Carcinoma; Carcinoma Ductal Breast; Carcinoma Lobular; Female; Genetic Predisposition to Disease; Heterozygote; Humans; Middle Aged; Neoplasm Grading; Neoplasm Staging; Receptor ErbB-2; Receptors Estrogen; Receptors Progesterone; Genes BRCA1; Genes BRCA2; Cancer Research; OncologyOncologyReceptors EstrogenTUMOR SUBTYPESFemaleReceptors ProgesteroneReceptorResearch ArticleAdultHeterozygote610Breast NeoplasmsMEDULLARY CARCINOMAOVARIAN-CANCERLobularHumansGenetic Predisposition to DiseaseGENOME-WIDE ASSOCIATIONAllelesAgedNeoplasm StagingAdult; Aged; Alleles; Breast Neoplasms; Carcinoma; Carcinoma Ductal Breast; Carcinoma Lobular; Female; Genetic Predisposition to Disease; Heterozygote; Humans; Middle Aged; Neoplasm Grading; Neoplasm Staging; Receptor ErbB-2; Receptors Estrogen; Receptors Progesterone; Genes BRCA1; Genes BRCA2CONSORTIUMCarcinomaBRCA1EstrogenBRCA2Carcinoma LobularESTROGEN-RECEPTORGenesNeoplasm GradingBreast Cancer Research
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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
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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 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
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