Familial breast and ovarian cancers

被引：22

作者：

Arai M. ^{[1
,2
]}

Utsunomiya J. ^{[2
]}

Miki Y. ^{[1
,3
]}

机构：

[1] Clin. Lab. of Genetic Diagnosis, Cancer Institute Hospital of JFCR, Toshima-ku, Tokyo 170-8455

[2] Familial Cancer Center, Cancer Institute Hospital of JFCR, Tokyo

[3] Department of Molecular Diagnosis, Cancer Institute of JFCR, Tokyo

来源：

International Journal of Clinical Oncology | 2004年 / 9卷 / 4期

关键词：

BRCA1; BRCA2; Clinical management; Genetic testing;

D O I：

10.1007/s10147-004-0423-3

中图分类号：

学科分类号：

摘要：

About 60% of familial breast and ovarian cancers in Japan involve germline mutations of the BRCA1 or BRCA2 (BRCA1/2) genes. These genes contribute to genetic stability and DNA repair and act as tumor suppressor genes. Mutation analysis of the BRCA1/2 genes has improved our understanding of both common mutation patterns in Japanese patients and the clinicopathological features of BRCA1/2-related cancers. BRCA1-related breast cancers are characterized by poor prognosis, a low rate of estrogen receptor positivity, and histological predominance of solid-tubular carcinoma. BRCA1-related ovarian cancers are associated with a high frequency of serous adenocarcinoma and a good outcome. Further large-scale studies are needed to delineate genotype-phenotype relations and penetrance in BRCA1/2-related breast and ovarian cancers in Japan. The development of systems for clinical genetics in Japan, including genetic counseling, has led to the increased use of genetic testing for the clinical management of BRCA1/2-related cancers. Three options are available for carriers of BRCA1/2 mutations: intensive surveillance, chemoprevention, and prophylactic surgery. Studies done in other countries indicate that prophylactic surgery effectively prevents the development of breast and ovarian cancers in carriers of BRCA1/2 mutations. However, prophylactic mastectomy remains controversial in Japan, and now systematic intensive surveillance is generally performed for the prevention of breast cancer in women at high risk. Early detection of ovarian cancer remains challenging, resulting in increased acceptance of the need for prophylactic oophorectomy in women at risk. This review summarizes experimental and clinical findings about familial breast and ovarian cancers, including data on Japanese patients.

引用

页码：270 / 282

页数：12

共 132 条

[21]

Verhoog L.C., Brekelmans C.T., Seynaeve C., Et al., Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1, Lancet, 351, pp. 316-321, (1998)

[22]

Armes J.E., Venter D.J., The pathology of inherited breast cancer, Pathology, 34, pp. 309-314, (2002)

[23]

Pathology of familial breast cancer: Differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases, Lancet, 349, pp. 1505-1510, (1997)

[24]

Jass J.R., Smyrk T.C., Stewart S.M., Et al., Pathology of hereditary non-polyposis colorectal cancer, Anticancer Res, 14, pp. 1631-1634, (1994)

[25]

Lakhani S.R., Van De Vijver M.J., Jacquemier J., Et al., The pathology of familial breast cancer: Predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2, J Clin Oncol, 20, pp. 2310-2318, (2002)

[26]

Gasco M., Yulug I.G., Crook T., TP53 mutations in familial breast cancer: Functional aspects, Hum Mutat, 21, pp. 301-306, (2003)

[27]

Hamann U., Sinn H.P., Survival and tumor characteristics of German hereditary breast cancer patients, Breast Cancer Res Treat, 59, pp. 185-192, (2000)

[28]

Gayther S.A., Russell P., Harrington P., Et al., The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: No evidence for other ovarian cancer-susceptibility genes, Am J Hum Genet, 65, pp. 1021-1029, (1999)

[29]

Aida H., Takakuwa K., Nagata H., Et al., Clinical features of ovarian cancer in Japanese women with germ-line mutations of BRCA1, Clin Cancer Res, 4, pp. 235-240, (1998)

[30]

Pharoah P.D., Easton D.F., Stockton D.L., Et al., Survival in familial, BRCA1-associated, and BRCA2-associated epithelial ovarian cancer, Cancer Res, 59, pp. 868-871, (1999)

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