A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17

Nadine Puget, Delphine Torchard, Olga M. Serova-Sinilnikova, Henry T. Lynch, Jean Feunteun, Gilbert M. Lenoir, Sylvie Mazoyer

Research output: Contribution to journalArticle

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Abstract

Although more than 100 different BRCA1 germ-line mutations have already been identified in breast and/or ovarian cancer families, we report for the first time a deleterious genomic rearrangement in BRCA1. A 1-kb deletion comprising exon 17 was found in a large breast and ovarian cancer family, leading to a frameshift in the mutant mRNA due to the absence of exon 17. This deletion is probably the result of a recombination between two closely related Alu sequences. It was not detected by conventional PCR-based methods involving the genomic screening of the 22 coding exons or reverse transcription-PCR because the transcript without exon 17 is unstable in lymphoblastoid cell lines. Therefore, rearrangements in the BRCA1 gene should be sought in breast/ovarian cancer families in which no mutations have been found by PCR-based methods in the coding region or in the splice sites.

Original languageEnglish
Pages (from-to)828-831
Number of pages4
JournalCancer Research
Volume57
Issue number5
StatePublished - 1997

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Germ Cells
Exons
Ovarian Neoplasms
Breast Neoplasms
Polymerase Chain Reaction
BRCA1 Gene
Germ-Line Mutation
Genetic Recombination
Reverse Transcription
Cell Line
Messenger RNA
Mutation

All Science Journal Classification (ASJC) codes

  • Cancer Research
  • Oncology

Cite this

Puget, N., Torchard, D., Serova-Sinilnikova, O. M., Lynch, H. T., Feunteun, J., Lenoir, G. M., & Mazoyer, S. (1997). A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17. Cancer Research, 57(5), 828-831.

A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17. / Puget, Nadine; Torchard, Delphine; Serova-Sinilnikova, Olga M.; Lynch, Henry T.; Feunteun, Jean; Lenoir, Gilbert M.; Mazoyer, Sylvie.

In: Cancer Research, Vol. 57, No. 5, 1997, p. 828-831.

Research output: Contribution to journalArticle

Puget, N, Torchard, D, Serova-Sinilnikova, OM, Lynch, HT, Feunteun, J, Lenoir, GM & Mazoyer, S 1997, 'A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17', Cancer Research, vol. 57, no. 5, pp. 828-831.
Puget N, Torchard D, Serova-Sinilnikova OM, Lynch HT, Feunteun J, Lenoir GM et al. A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17. Cancer Research. 1997;57(5):828-831.
Puget, Nadine ; Torchard, Delphine ; Serova-Sinilnikova, Olga M. ; Lynch, Henry T. ; Feunteun, Jean ; Lenoir, Gilbert M. ; Mazoyer, Sylvie. / A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17. In: Cancer Research. 1997 ; Vol. 57, No. 5. pp. 828-831.
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