Differential Contributions ofBRCA1andBRCA2to Early-Onset Breast Cancer

Autor:	Michael Krainer, Kanamaru R, Kurt J. Isselbacher, Daniel A. Haber, Chikashi Ishioka, Michael G. FitzGerald, Akira Shimada, Anne M. Bowcock, Sandra Silva-Arrieta, Hilal Unsal, Dianne M. Finkelstein, Deborah J. MacDonald
Rok vydání:	1997
Předmět:	education.field_of_study endocrine system diseases business.industry Population Cancer General Medicine medicine.disease BRCA2 Protein Breast cancer Germline mutation Carcinoma medicine Cancer research Age of onset Young adult skin and connective tissue diseases education business
Zdroj:	New England Journal of Medicine. 336:1416-1422
ISSN:	1533-4406 0028-4793
Popis:	Background Germ-line mutations in the BRCA1 and BRCA2 genes predispose women to breast cancer. BRCA1 mutations are found in approximately 12 percent of women with breast cancer of early onset, and the specific mutation causing a deletion of adenine and guanine (185delAG), which is present in 1 percent of the Ashkenazi Jewish population, contributes to 21 percent of breast cancers among young Jewish women. The contribution of BRCA2 mutations to breast cancer of early onset is unknown. Methods Lymphocyte specimens from 73 women with breast cancer diagnosed by the age of 32 were studied for heterozygous mutations of BRCA2 by a complementary-DNA–based protein-truncation assay, followed by automated nucleotide sequencing. In addition, specimens from 39 Jewish women with breast cancer diagnosed by the age of 40 were tested for specific mutations by an allele-specific polymerase chain reaction. Results Definite BRCA2 mutations were found in 2 of the 73 women with early-onset breast cancer (2.7 percent; 95 percen...
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::6d1c1c04fd6a922c4879e3731bf6ad01 https://doi.org/10.1056/nejm199705153362003 Zobrazit plný text záznamu