| GeneLibs

题目:: Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer.
作者:: Prodosmo(Andrea),Buffone(Amelia),Mattioni(Manlio),Barnabei(Agnese),Persichetti(Agnese),De Leo(Aurora),Appetecchia(Marialuisa),Nicolussi(Arianna),Coppa(Anna),Sciacchitano(Salvatore),Giordano(Carolina),Pinnarò(Paola),Sanguineti(Giuseppe),Strigari(Lidia),Alessandrini(Gabriele),Facciolo(Francesco),Cosimelli(Maurizio),Grazi(Gian Luca),Corrado(Giacomo),Vizza(Enrico),Giannini(Giuseppe),Soddu(Silvia)
状态:: 发布时间2016-09-07 , 更新时间 2016-11-29
期刊:: J Exp Clin Cancer Res
摘要:: Variant ATM heterozygotes have an increased risk of developing cancer, cardiovascular diseases, and diabetes. Costs and time of sequencing and ATM variant complexity make large-scale, general population screenings not cost-effective yet. Recently, we developed a straightforward, rapid, and inexpensive test based on p53 mitotic centrosomal localization (p53-MCL) in peripheral blood mononuclear cells (PBMCs) that diagnoses mutant ATM zygosity and recognizes tumor-associated ATM polymorphisms.,Fresh PBMCs from 496 cancer patients were analyzed by p53-MCL: 90 cases with familial BRCA1/2-positive and -negative breast and/or ovarian cancer, 337 with sporadic cancers (ovarian, lung, colon, and post-menopausal breast cancers), and 69 with breast/thyroid cancer. Variants were confirmed by ATM sequencing.,A total of seven individuals with ATM variants were identified, 5/65 (7.7 %) in breast cancer cases of familial breast and/or ovarian cancer and 2/69 (2.9 %) in breast/thyroid cancer. No variant ATM carriers were found among the other cancer cases. Excluding a single case in which both BRCA1 and ATM were mutated, no p53-MCL alterations were observed in BRCA1/2-positive cases.,These data validate p53-MCL as reliable and specific test for germline ATM variants, confirm ATM as breast cancer susceptibility gene, and highlight a possible association with breast/thyroid cancers.
语言:: eng
DOI:

文献库文献相关信息

DataTable pData

联系方式

微信公众号

文献库 文献相关信息

DataTable pData

联系方式

微信公众号

文献库文献相关信息