Genetic linkage analysis in familial breast and ovarian cancer : results from 214 families

Genetic linkage analysis in familial breast and ovarian cancer : results from 214 families

Breast cancer is known to have an inherited component, consistent in some families with autosomal dominant inheritance; in such families the disease often occurs in association with ovarian cancer. Previous genetic linkage studies have established that in some such families disease occurrence is lin...

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Bibliographic Details
Published in:American journal of human genetics 1993-04, Vol.52 (4), p.678-701
Main Authors: EASTON, D. F, BISHOP, D. T, FORD, D, CROCKFORD, G. P
Format: Article
Language:eng
Subjects:
BASIC BIOLOGICAL SCIENCES
Biological and medical sciences
BIOLOGICAL VARIABILITY
BODY
breast
carcinoma
CHROMOSOMES
DISEASES
family studies
FEMALE GENITALS
GENETIC MAPPING
GENETIC VARIABILITY
GLANDS
GONADS
Gynecology. Andrology. Obstetrics
HUMAN CHROMOSOME 17
HUMAN CHROMOSOMES
linkage analysis
Mammary gland diseases
MAMMARY GLANDS
man
MAPPING
Medical sciences
NEOPLASMS
ORGANS 550400 > Genetics
OVARIES
RISK ASSESSMENT
Tumors
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Summary:Breast cancer is known to have an inherited component, consistent in some families with autosomal dominant inheritance; in such families the disease often occurs in association with ovarian cancer. Previous genetic linkage studies have established that in some such families disease occurrence is linked to markers on chromosome 17q. This paper reports the results of a collaborative linkage study involving 214 breast cancer families, including 57 breast-ovarian cancer families; this represents almost all the known families with 17q linkage data. The results suggest that a gene(s) on chromosome 17q accounts for the majority of families in which both early-onset breast cancer and ovarian cancer occur but that other genes predisposing to breast cancer exist. By examining the fit of the linkage data to different penetrance functions, the cumulative risk associated with the 17q gene was estimated to be 59% by age 50 years and 82% by age 70 years. The corresponding estimates for the breast-ovary families were 67% and 76%, and those for the families without ovarian cancer were 49% and 90%; these penetrance functions did not differ significantly from one another.
ISSN:0002-9297
1537-6605