DESCRIPTION: The goal of this study is to describe the frequency and type
of mutations and polymorphisms in two autosomal dominant, highly penetrant
breast cancer genes in cases and controls from a population-based series of
Chinese women with breast cancer, unselected for family history. Mutations
in the BRCA1 and BRCA2 genes have all been associated with breast cancer in
high risk families, that include multiple cases of apparently inherited
disease, often at a young age. The majority of these data derive from
studies of a small number of high risk Caucasian families with unusually
high frequencies of early onset breast cancer. No information is available
regarding the frequency, type or presence of founder mutations in
non-Caucasian populations, specifically among Asians. As a result, no
information is currently available for genetic testing or screening for
either Chinese women or Western women living in North America or Europe, who
are of Chinese descent. This study seeks to provide and disseminate that
information by: 1) determining the frequency and types of mutations in the
BRCA1 genes in cases and controls from a large, population-based,
case-control study of breast cancer in Shanghai; 2) developing a public data
base to distribute the above information, along with information regarding
the type and frequency of polymorphisms and rare sequence variants' and 3)
comparing the frequency and type of mutations with suspected risk factors
for breast cancer. The proposed study will be nested within a randomized,
controlled trial, the Shanghai Breast Self-Examination (BSE) Trial, of
267,000 women, designed to examine the effect of breast self-examination on
breast cancer mortality in Shanghai, China. Extensive epidemiologic data
are already available on this cohort, which may be combined with the
proposed molecular study for additional analyses. Information from the
above studies could be used to formulate public health policy and diagnostic
breast cancer screening strategies on subsets of Asian women, in the future.
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