Double primary cancers of the breast and thyroid in women: Molecular analysis and genetic implications

被引:14
作者
Pal T. [1 ,2 ]
Hamel N. [3 ]
Vesprini D. [1 ]
Sanders K. [2 ,3 ]
Mitchell M. [2 ]
Quercia N. [1 ]
Ng Cheong N. [3 ]
Murray A. [3 ]
Foulkes W. [3 ,4 ]
Narod S.A. [1 ]
机构
[1] Centre for Research in Women's Health, University of Toronto, Toronto, Ont.
[2] Princess Margaret Hospital, Toronto, Ont.
[3] Montreal General Hospital, Research Institute, McGill University, Montreal, Que.
[4] Cancer Prevention Research Unit, Sir M.B. Davis Jewish General Hospital, Montreal, Que.
关键词
Breast cancer; Genetics; Thyroid cancer;
D O I
10.1023/A:1011541424424
中图分类号
学科分类号
摘要
Multiple primary cancers are characteristic of hereditary cancer syndromes. A familial association between breast and thyroid cancer has been suggested, but a genetic basis for this association has not yet been established. To determine the extent to which double primary cancers of the breast and thyroid are due to common hereditary factors, we conducted a registry- and hospital-based study in Ontario and Quebec. We obtained family histories of 74 women diagnosed with both cancer of the breast and thyroid before 70 years of age. Cancer histories were obtained for the 533 first-degree relatives of these women. The observed cancer rate in the relatives was compared with the expected number, based on age-standardized Canadian cancer incidence rates, and relative risks were estimated. A total of 87 cancers were observed in the relatives, compared to 93.7 expected cancers, giving a relative risk of 0.9 (95% confidence interval (CI): 0.7-1.1). The risk for breast cancer was 1.1 (95% CI: 0.6-1.7) and the risk for thyroid cancer was 0.7 (95% CI: 0-3.8). Blood samples were collected from 53 patients for mutational analysis of the BRCA1, BRCA2, and PTEN genes. One woman was found to be a carrier of a BRCA1 mutation (exon 11 3227delT). Our findings do not support the hypothesis that a significant proportion of double primary cancers of the breast and thyroid are due to hereditary factors.
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页码:17 / 24
页数:7
相关论文
共 51 条
[1]  
Ford D., Easton D.F., Peto J., Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer, Am J Hum Genet, 57, pp. 1457-1462, (1995)
[2]  
Foulkes W.D., Narod S.A., Hereditary breast and ovarian cancer: Epidemiology, genetics, screening and predictive testing, Clin Invest Med, 18, pp. 473-483, (1995)
[3]  
Claus E.B., Schildkraut J.M., Thompson W.D., Risch N.J., The genetic attributable risk of breast and ovarian cancer, Cancer, 77, pp. 2318-2324, (1996)
[4]  
Struewing J.P., Hartge P., Wacholder S., Et al., The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews, N Eng J Med, 336, pp. 1401-1408, (1997)
[5]  
Ford D., Easton D.F., Bishop D.T., Et al., Risks of cancer in BRCA1 mutation carriers, Lancet, 343, pp. 692-695, (1994)
[6]  
Cancer risks in BRCA2 mutation carriers, J Nat Cancer Inst, 91, pp. 1310-1316, (1999)
[7]  
Brownstein M.H., Wolf M., Bilowski J.B., Cowden's disease, Cancer, 41, pp. 2393-2398, (1978)
[8]  
Starink T.M., Van der Veen J.P.W., Arwert F., Et al., The cowden syndrome: A clinical and genetic study in 21 patients, Clin Genet, 29, pp. 222-233, (1986)
[9]  
Hanssen A.M.N., Fryns J.P., Cowden syndrome, J Med Genet, 32, pp. 117-119, (1995)
[10]  
Li J., Yen C., Liaw D., Et al., PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer, Science, 275, pp. 1943-1947, (1997)