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A case of inv dup(8p) with early onset breast cancer
  1. M SELTMANN,
  2. P HARRINGTON,
  3. B A J PONDER
  1. CRC Human Cancer Genetics Research Group, Box 139, Cambridge Institute for Medical Research, Cambridge CB2 2XY, UK
  2. Cytogenetics Laboratory, Box 108, Level 2, Addenbrooke's Hospital, Hills Road, Cambridge, CB2 2QQ, UK
  3. Medical Research Council, Hills Road, Cambridge, CB2 2QQ, UK
  4. University of California, Irvine, USA
  1. Dr Seltmann, Essen University Medical School, Virchow Strasse 173, Institute of Cell Biology, D-45147 Essen, Germany
  1. L R WILLATT
  1. CRC Human Cancer Genetics Research Group, Box 139, Cambridge Institute for Medical Research, Cambridge CB2 2XY, UK
  2. Cytogenetics Laboratory, Box 108, Level 2, Addenbrooke's Hospital, Hills Road, Cambridge, CB2 2QQ, UK
  3. Medical Research Council, Hills Road, Cambridge, CB2 2QQ, UK
  4. University of California, Irvine, USA
  1. Dr Seltmann, Essen University Medical School, Virchow Strasse 173, Institute of Cell Biology, D-45147 Essen, Germany
  1. A C HEPPELL-PARTON
  1. CRC Human Cancer Genetics Research Group, Box 139, Cambridge Institute for Medical Research, Cambridge CB2 2XY, UK
  2. Cytogenetics Laboratory, Box 108, Level 2, Addenbrooke's Hospital, Hills Road, Cambridge, CB2 2QQ, UK
  3. Medical Research Council, Hills Road, Cambridge, CB2 2QQ, UK
  4. University of California, Irvine, USA
  1. Dr Seltmann, Essen University Medical School, Virchow Strasse 173, Institute of Cell Biology, D-45147 Essen, Germany
  1. H ANTON-CULVER
  1. CRC Human Cancer Genetics Research Group, Box 139, Cambridge Institute for Medical Research, Cambridge CB2 2XY, UK
  2. Cytogenetics Laboratory, Box 108, Level 2, Addenbrooke's Hospital, Hills Road, Cambridge, CB2 2QQ, UK
  3. Medical Research Council, Hills Road, Cambridge, CB2 2QQ, UK
  4. University of California, Irvine, USA
  1. Dr Seltmann, Essen University Medical School, Virchow Strasse 173, Institute of Cell Biology, D-45147 Essen, Germany

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Editor—More than 50 cases have been described with inv dup(8p) which can be either di- or monocentric.1-4 A rough estimate of the prevalence of both is 1/22 000-30 000 of the white population. Concurrently with the 8p duplication, markers at the tip of chromosome 8 are consistently deleted. All the cases described are associated with mental retardation, facial dysmorphism, brain defects and/or developmental delay. Allele loss and amplifications of regions of chromosome 8p are commonly reported in sporadic breast cancer,5-7 and two recent papers have suggested linkage to 8p11-12 in familial breast cancer.5-8 We report a case of 8p duplication and inversion in a woman who developed breast cancer at the age of 36, with a personal history of developmental abnormality and a family history of breast and other cancers. Because of the possible link between this chromosomal abnormality and a breast cancer predisposing gene on chromosome 8p, …

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