Details

Autor(en) / Beteiligte

• Cai, Qi
• Sun, Meng-hong
• Fu, Gang
• Ding, Chun-wei
• Mo, Shan-jing
• Cai, San-jun
• Ren, Shuang-xi
• Min, Da-liu
• Xu, Xiao-li
• Zhu, Wei-ping
• Zhang, Tai-ming
• Shi, Da-ren

Titel

Mutation analysis of hMSH2 and hMLH1 genes in Chinese hereditary nonpolyposis colorectal cancer families

Ist Teil von

• Zhonghua bing li xue za zhi, 2003-08, Vol.32 (4), p.323

Ort / Verlag

China

Erscheinungsjahr

2003

Quelle

MEDLINE

Beschreibungen/Notizen

• To determine the germ-line mutations of hMSH2 and hMLH1 genes in Chinese hereditary nonpolyposis colorectal cancer (HNPCC) families' probands or in patients fulfilling different clinical criteria or guidelines; to clarify the nature and distribution of the mutations; to evaluate the sensitivity of different clinical criteria in mutation prediction. The entire coding regions (35 exons including exon-intron boundaries) of hMSH2 and hMLH1 genes were directly sequenced in 24 Amsterdam criteria (AC) probands, 15 Japanese criteria (JC) probands (except AC kindreds) and 19 Bethesda guidelines (BG) patients (except two former groups). All available affected and unaffected members from families of those with mutations were screened for mutation. In 16 unrelated families selected by the different clinical criteria, 17 germ-line mutations were found with 11 (64.7%) of hMLH1 and 6 (35.3%) of hMSH2. Two mutations were identified in one of the families. Among the 17 germ-line mutations, 12 had not been reported previously.