Thymic Lymphomas in Mice with a Truncating Mutation in Brca2

LS Friedman, FC Thistlethwaite, KJ Petel, VPCC Yu… - Cancer research, 1998 - AACR
LS Friedman, FC Thistlethwaite, KJ Petel, VPCC Yu, H Lee, AR Venkitaraman, KJ Abel…
Cancer research, 1998AACR
Inherited mutations in the BRCA2 gene predispose women to breast and ovarian cancer.
We created a mutation in the mouse Brca2 gene that terminates translation in exon 11 at
45% of the normal transcript length. Ninety% of Brca2tm1Cam homozygous mutant mice die
prenatally or perinatally. The location of the Brca2tm1Cam mutation differs from those
reported previously, and this phenotype suggests a correlation with genotype analogous to
that previously reported in humans. Although heterozygote mice have remained free of …
Abstract
Inherited mutations in the BRCA2 gene predispose women to breast and ovarian cancer. We created a mutation in the mouse Brca2 gene that terminates translation in exon 11 at 45% of the normal transcript length. Ninety % of Brca2tm1Cam homozygous mutant mice die prenatally or perinatally. The location of the Brca2tm1Cam mutation differs from those reported previously, and this phenotype suggests a correlation with genotype analogous to that previously reported in humans. Although heterozygote mice have remained free of tumors for 10 months, Brca2tm1Cam homozygous mutants that survived to adulthood died with thymic lymphomas between 12 and 14 weeks of age.
AACR