||5R01CA069361-03 Interpret this number
||Mount Sinai School Of Medicine
||Prevalence of Brcal-a Population Based Study
DESCRIPTION: (Adapted from Investigator's Abstract) The recent discovery
and cloning of the BRCA1 gene (Miki 1994), which predisposes to breast and
ovarian cancers, corroborates extensive genetic and epidemiologic data on
familial patterns of inheritance and establishes a genetic contribution to
their etiology. To estimate the distribution and characteristics of BRCA1
mutations in a population-based series of breast and ovarian cancer cases,
the investigators propose to retrieve 1,355 paraffin-embedded breast tissue
blocks from young black and white women diagnosed with breast cancer between
1980 and 1982 who were part of a large multi-center population-based
case-control study. Tissue blocks from 250 women with ovarian cancer, who
were part of the same parent study, have already been collected. For all
cases, extensive risk factor and follow-up information have also been
collected and computerized.
The goals of this study are to: (1) explore the frequency, location, and
type of germline BRCA1 mutations among a population-based sample of young
black and white women with breast and/or ovarian cancer, with and without a
family history of cancer; (2) describe the clinical features of genetic
subtypes of breast or ovarian cancers diagnosed in black and white women who
have specific germline mutations (or groups of mutations) of the BRCA1 gene;
(3) determine risk factors for genetic subtypes of breast and/or ovarian
cancer (as defined by mutations, or groups of mutations of the BRCA1 gene)
among black and white women; and (4) evaluate the possibility of somatic
mutations in a population-based study of women with breast or ovarian
cancer. BRCA1 analyses of the paraffin-embedded tissue specimens will be
performed using a 3-stage approach for efficient mutation detection: (1)
allele-specific nucleotide (ASOs); (2) RNAse mismatch; and (3) PCR-based
sequencing. This approach has already been operationalized in our
laboratories. The investigators state that this study will provide
comprehensive information in an epidemiologic context on the contribution of
BRCA1 to the etiology of breast and ovarian cancers, and it will guide
development of accurate counseling and intervention strategies for women who
carry high-risk BRCA1 alleles.
Factors influencing mortality among young women with second primary breast carcinoma.
, Lapinski R.
, Lynch C.
, Holford T.
, Thompson W.D.
Cancer, 2002-11-15; 95(10), p. 2051-8.