Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations.

doi:10.1093/hmg/5.6.835

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Article

Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations.

Human molecular genetics - 1 Jun 1996

Durocher F, Shattuck-Eidens D, McClure M, Labrie F, Skolnick M H, Goldgar D E, Simard J

Abstract excerpt

Inherited mutations in the BRCA1 gene are known to confer a predisposition to breast and ovarian cancer. We have first characterized 19 sequence variants in the BRCA1 gene during mutation screening by direct sequencing using DNA samples from breast/ovarian cancer patients or obligate carriers. Th...

Topics

BRCA1 Protein
Breast Neoplasms
Cell Line, Transformed
Female
Gene Frequency
Humans
Mutation
Ovarian Neoplasms
Polymorphism, Genetic

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