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题目:: Germline PALB2 mutation analysis in breast-pancreas cancer families.
作者:: Stadler(Zsofia K),Salo-Mullen(Erin),Sabbaghian(Nelly),Simon(Jennifer A),Zhang(Liying),Olson(Sara H),Kurtz(Robert),Offit(Kenneth),Foulkes(William D),Robson(Mark E),Tischkowitz(Marc)
状态:: 发布时间2011-07-22 , 更新时间 2011-07-22
期刊:: J Med Genet
摘要:: Germline mutations in the PALB2 gene have been implicated in both breast cancer and pancreatic cancer susceptibility. The extent to which PALB2 mutations account for cancer susceptibility in breast-pancreas cancer families is unknown.,High Resolution Melting analysis and Multiplex Ligation-dependent Probe Amplification were performed to investigate the prevalence of PALB2 mutations in patients with either a personal history of both breast and pancreatic cancer or a personal history of breast cancer and a family history of a first degree relative with pancreatic cancer.,No PALB2 mutations were identified in 77 breast-pancreas cancer families, which included 22 probands with a personal history of both breast and pancreatic cancer.,Mutations within the PALB2 gene are rare events that do not account for a substantial proportion of cancer susceptibility in breast-pancreas cancer families. Routine screening of breast-pancreas cancer families for the presence of PALB2 mutations appears to be low yield.
语言:: eng
DOI:: 10.1136/jmg.2010.087379

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