Familial pancreatic cancer syndromes

被引:36
作者
Habbe, Nils
Langer, Peter
Sina-Frey, Mercedes
Bartsch, Detlef K.
机构
[1] Stadt Kliniken Bielefeld Mitte, Dept Surg, D-33042 Bielefeld, Germany
[2] Univ Marburg, Dept Surg, D-35033 Marburg, Germany
[3] Univ Marburg, Inst Clin Genet, D-35037 Marburg, Germany
关键词
D O I
10.1016/j.ecl.2006.02.016
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Hereditary pancreatic cancer (PC) is rare and extremely heterogeneous, and it accounts for approximately 2% of all PC cases. The major component of hereditary PC is the familial pancreatic cancer syndrome. Although up to 20% of hereditary PC cases are associated with germline mutations in the BRCA2, CDKN2A, PRSS1, STK11 or MMR genes, the major underlying gene defect(s) is still unknown. Although hereditary PC is rare, the data on PC families that have been collected by various study groups worldwide provide a unique opportunity to evaluate the natural history, causative gene alterations, new diagnosis and chemoprevention strategies as well as treatment modalities.
引用
收藏
页码:417 / +
页数:15
相关论文
共 65 条
[61]  
2-L
[62]   A FAMILIAL SYNDROME OF PANCREATIC-CANCER AND MELANOMA WITH A MUTATION IN THE CDKN2 TUMOR-SUPPRESSOR GENE [J].
WHELAN, AJ ;
BARTSCH, D ;
GOODFELLOW, PJ .
NEW ENGLAND JOURNAL OF MEDICINE, 1995, 333 (15) :975-977
[63]   Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene [J].
Whitcomb, DC ;
Gorry, MC ;
Preston, RA ;
Furey, W ;
Sossenheimer, MJ ;
Ulrich, CD ;
Martin, SP ;
Gates, LK ;
Amann, ST ;
Toskes, PP ;
Liddle, R ;
McGrath, K ;
Uomo, G ;
Post, JC ;
Ehrlich, GD .
NATURE GENETICS, 1996, 14 (02) :141-145
[64]   Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis [J].
Witt, H ;
Luck, W ;
Hennies, HC ;
Classen, M ;
Kage, A ;
Lass, U ;
Landt, O ;
Becker, M .
NATURE GENETICS, 2000, 25 (02) :213-216
[65]   MUTATIONS OF THE ADENOMATOUS POLYPOSIS-COLI GENE IN THE MUTATION CLUSTER REGION - COMPARISON OF HUMAN PANCREATIC AND COLORECTAL CANCERS [J].
YASHIMA, K ;
NAKAMORI, S ;
MURAKAMI, Y ;
YAMAGUCHI, A ;
HAYASHI, K ;
ISHIKAWA, O ;
KONISHI, Y ;
SEKIYA, T .
INTERNATIONAL JOURNAL OF CANCER, 1994, 59 (01) :43-47