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Advances in Brief

Loss of Heterozygosity in Familial Tumors from Three BRCA1-linked Kindreds

Susan L. Neuhausen and C. Jay Marshall
Susan L. Neuhausen
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C. Jay Marshall
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DOI:  Published December 1994
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Abstract

BRCA1, a breast-ovarian cancer susceptibility gene which has been localized to 17q21, appears to be a tumor suppressor gene based on evidence from loss of heterozygosity (LOH) studies. We analyzed 14 ovarian and breast tumors from BRCA1 carriers and 1 sporadic breast tumor from 3 kindreds for 17q21 LOH. Thirteen of the 14 tumors from gene carriers exhibited LOH of the wild-type allele. Tumors from one gene carrier and the sporadic breast case did not exhibit any LOH in the region. There was loss of the wild-type allele from both maternally and paternally derived chromosomes, therefore excluding the possibility of genomic imprinting and providing further evidence that BRCA1 is a tumor suppressor. Three tumors showed interstitial LOH in the region, and thus established the utility of familial tumors in refining a region surrounding a tumor suppressor gene in a manner analogous to using genetic recombinants.

Footnotes

  • ↵1 This work was supported by Grants CA-48711 and CA-55914 from the NIH.

  • ↵2 To whom requests for reprints should be addressed, at Genetic Epidemiology, 420 Chipeta Way, Rm 180, Salt Lake City, UT 84108.

  • Received August 31, 1994.
  • Accepted October 19, 1994.
  • ©1994 American Association for Cancer Research.
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December 1994
Volume 54, Issue 23
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Loss of Heterozygosity in Familial Tumors from Three BRCA1-linked Kindreds
Susan L. Neuhausen and C. Jay Marshall
Cancer Res December 1 1994 (54) (23) 6069-6072;

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Loss of Heterozygosity in Familial Tumors from Three BRCA1-linked Kindreds
Susan L. Neuhausen and C. Jay Marshall
Cancer Res December 1 1994 (54) (23) 6069-6072;
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