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Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.
Hum Mutat. 2003 Sep; 22(3):259.HM

Abstract

BRCA1 and BRCA2 germline mutations cause a substantially increased life time risk of both breast and ovarian cancer. Mutational screening of these genes by means of Denaturing High Performance Liquid Chromatography (DHPLC) in breast and/or ovarian cancer-prone families from Southern Germany revealed 15 novel BRCA1 and 8 novel BRCA2 sequence variants. Predictions on the BRCA1/BRCA2 protein functions lead to the identification of 11 novel deleterious cancer predisposing mutations. Mutation types and their functional relevances are discussed. Our data contribute to phenotype-genotype correlation studies and to the characterisation of the mutation spectrum of BRCA1/BRCA2.

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Authors+Show Affiliations

Meyer P
Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany. Peter.Meyer@onkogenetik.de
Voigtlaender T
No affiliation info available
Bartram CR
No affiliation info available
Klaes R
No affiliation info available

MeSH

BRCA1 ProteinBRCA2 ProteinBreast NeoplasmsCodon, NonsenseFamilyFemaleFrameshift MutationGenes, BRCA1Genes, BRCA2Genetic Predisposition to DiseaseGerm-Line MutationGermanyHumansMaleMutation, MissenseOvarian NeoplasmsProstatic NeoplasmsSequence Analysis, DNA

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

12938098

Citation

Meyer, Peter, et al. "Twenty-three Novel BRCA1 and BRCA2 Sequence Alterations in Breast And/or Ovarian Cancer Families in Southern Germany." Human Mutation, vol. 22, no. 3, 2003, p. 259.
Meyer P, Voigtlaender T, Bartram CR, et al. Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany. Hum Mutat. 2003;22(3):259.
Meyer, P., Voigtlaender, T., Bartram, C. R., & Klaes, R. (2003). Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany. Human Mutation, 22(3), 259.
Meyer P, et al. Twenty-three Novel BRCA1 and BRCA2 Sequence Alterations in Breast And/or Ovarian Cancer Families in Southern Germany. Hum Mutat. 2003;22(3):259. PubMed PMID: 12938098.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany. AU - Meyer,Peter, AU - Voigtlaender,Theda, AU - Bartram,Claus R, AU - Klaes,Ruediger, PY - 2003/8/26/pubmed PY - 2003/10/28/medline PY - 2003/8/26/entrez SP - 259 EP - 259 JF - Human mutation JO - Hum Mutat VL - 22 IS - 3 N2 - BRCA1 and BRCA2 germline mutations cause a substantially increased life time risk of both breast and ovarian cancer. Mutational screening of these genes by means of Denaturing High Performance Liquid Chromatography (DHPLC) in breast and/or ovarian cancer-prone families from Southern Germany revealed 15 novel BRCA1 and 8 novel BRCA2 sequence variants. Predictions on the BRCA1/BRCA2 protein functions lead to the identification of 11 novel deleterious cancer predisposing mutations. Mutation types and their functional relevances are discussed. Our data contribute to phenotype-genotype correlation studies and to the characterisation of the mutation spectrum of BRCA1/BRCA2. SN - 1098-1004 UR - https://www.unboundmedicine.com/medline/citation/12938098/Twenty_three_novel_BRCA1_and_BRCA2_sequence_alterations_in_breast_and/or_ovarian_cancer_families_in_Southern_Germany_ L2 - https://doi.org/10.1002/humu.9174 DB - PRIME DP - Unbound Medicine ER -