Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13

The penetrance of the BRCA2 gene on chromosome 13q12-13 has been estimated in two large, systematically ascertained, linked families, by use of a maximum-likelihood method to incorporate both cancer-incidence data and 13q marker typings in the families. The cumulative risk of breast cancer in female...

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Bibliographic Details
Published in:American journal of human genetics 1997-07, Vol.61 (1), p.120-128
Main Authors: EASTON, D. F, STEELE, L, CANNON-ALBRIGHT, L. A, STRATTON, M. R, GOLDGAR, D. E, FIELDS, P, ORMISTON, W, AVERILL, D, DALY, P. A, MCMANUS, R, NEUHAUSEN, S. L, FORD, D, WOOSTER, R
Format: Article
Language:English
Subjects:
Biological and medical sciences
BRCA2 Protein
Breast Neoplasms - genetics
Chromosomes, Human, Pair 13
Female
Female genital diseases
Genetic Linkage
Genetic Markers
Gynecology. Andrology. Obstetrics
Humans
Male
Medical sciences
Neoplasm Proteins - genetics
Pedigree
Risk
Transcription Factors - genetics
Tumors
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Summary:The penetrance of the BRCA2 gene on chromosome 13q12-13 has been estimated in two large, systematically ascertained, linked families, by use of a maximum-likelihood method to incorporate both cancer-incidence data and 13q marker typings in the families. The cumulative risk of breast cancer in female gene carriers was estimated to be 59.8% by age 50 years (95% confidence interval [95% CI] 25.9%-78.5%) and 79.5% by age 70 years (95% CI 28.9%-97.5%). The cumulative risk of breast cancer in male carriers was estimated to be 6.3% (95% CI 1.4%-25.6%) by age 70 years. There was no evidence of any risk difference between the two families. These results indicate that the lifetime breast cancer risk in BRCA2 carriers, for at least a subset of mutations, is comparable to that for BRCA1. A significant excess of ovarian cancer in gene carriers was observed (relative risk 17.69, based on three cases), but the absolute risk of ovarian cancer was less than that reported for BRCA1. Significant excesses of laryngeal cancer (relative risk 7.67, based on two possible carriers) and prostate cancer (relative risk 2.89, based on five possible carriers) were also observed. One case of ocular melanoma, as well as a second eye cancer of unspecified histology, occurred in obligate gene carriers.
ISSN:0002-9297
1537-6605
DOI:10.1086/513891