Genetic testing in colorectal cancer : who, when, how and why

この論文にアクセスする

この論文をさがす

著者

抄録

Colorectal cancer (CRC) is among the most prevalent and preventable forms of cancer worldwide, accounting for over 600,000 deaths in 2005. Both genetic and environmental factors contribute to cancer etiology and estimates suggest that at least one third of CRC has a familial component. There is increased awareness of a strong genetic component to CRC risk, with the identification of several high penetrance alleles that predict increased CRC susceptibility. These include familial adenomatous polyposis (FAP), linked to mutations or deletions of the <i>APC</i> tumor suppressor gene, as well as Lynch syndrome (formerly known as hereditary non-polyposis colorectal cancer or HNPCC), which is linked to mutations or deletions of one or more mismatch repair genes including <i>MLH1</i>, <i>MSH2</i> and <i>MSH6</i>. In addition, mutations in genes encoding key signaling molecules have been linked to autosomal dominant hamartomatous syndromes that are associated with increased susceptibility to CRC. These include Peutz-Jeghers syndrome, which is linked to mutations in <i>STK11/LKB</i> and Juvenile polyposis, which is linked to mutations in the genes encoding <i>SMAD4</i> and <i>BMPR1A</i>. In addition to these high penetrance autosomal dominant alleles, recessive mutations in the <i>MYH</i> mismatch repair gene are associated with a phenotype similar to FAP. With the widespread availability of genetic testing for these alleles, physicians will be faced with a complex array of choices in terms of advocating who should be tested, when should such testing take place, how it should be conducted and interpreted and why it changes the management and outcomes for the patient and his or her family.

収録刊行物

  • Keio journal of medicine  

    Keio journal of medicine 56(1), 14-20, 2007-03-01 

    The Keio Journal of Medicine

参考文献:  33件

参考文献を見るにはログインが必要です。ユーザIDをお持ちでない方は新規登録してください。

各種コード

  • NII論文ID(NAID)
    10018909897
  • NII書誌ID(NCID)
    AA00710216
  • 本文言語コード
    ENG
  • 資料種別
    REV
  • ISSN
    00229717
  • データ提供元
    CJP書誌  J-STAGE 
ページトップへ