Genetic testing and surgical decision making in hereditary colorectal cancer

被引：26

作者：

Soravia, C

Berk, T

Cohen, Z

机构：

[1] Univ Hosp Geneva, Clin Chirurg Digest, CH-1211 Geneva 14, Switzerland

[2] Univ Hosp Geneva, Registre Patho Hereditaires Digest, CH-1211 Geneva 14, Switzerland

[3] Univ Toronto, Mt Sinai Hosp, Dept Surg, Toronto, ON M5G 1X5, Canada

[4] Univ Toronto, Mt Sinai Hosp, Familial Gastrointestinal Canc Registry, Toronto, ON M5G 1X5, Canada

来源：

INTERNATIONAL JOURNAL OF COLORECTAL DISEASE | 2000年 / 15卷 / 01期

关键词：

genetic testing; familial adenomatous polyposis; hereditary nonpolyposis colorectal cancer; juvenile polyposis; Peutz-Jeghers syndrome; surgical decision making;

D O I：

10.1007/s003840050003

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Hereditary colorectal cancer results from specific genetic alterations. The causative genes for familial adenomatous polyposis, juvenile polyposis, Peutz-Jeghers syndrome, and hereditary nonpolyposis colorectal cancer have been cloned and characterized within the past decade. Genetic testing has therefore become more widely used to confirm the clinical diagnosis of each of those syndromes, to provide adequate surveillance, to allow screening of at-risk family members, and to help the surgeon in surgical decision making. The aim of this review is to analyze the importance of genetic testing in view of the clinical and surgical management of those gene-carriers individuals, and to discuss how should the surgeon integrate genetic testing in the evaluation of such patients.

引用

页码：21 / 28

页数：8

共 108 条

[1] Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease [J].

Aaltonen, LA ;

Salovaara, R ;

Kristo, P ;

Canzian, F ;

Hemminki, A ;

Peltomäki, P ;

Chadwick, RB ;

Kääriäinen, H ;

Eskelinen, M ;

Järvinen, H ;

Mecklin, JP ;

de la Chapelle, A ;

Percesepe, A ;

Ahtola, H ;

Härkönen, N ;

Julkunen, R ;

Kangas, E ;

Ojala, S ;

Tulikoura, J ;

ValKamo, E .

NEW ENGLAND JOURNAL OF MEDICINE, 1998, 338 (21) :1481-1487

[2]

Akiyama Y, 1997, CANCER RES, V57, P3920

[3]

Andreutti-Zaugg C, 1999, Hum Mutat, V13, P170, DOI 10.1002/(SICI)1098-1004(1999)13:2<170::AID-HUMU13>3.0.CO

[4]

2-4

[5]

[Anonymous], 1996, GUID CLIN PREV SERV

[6] Cost comparison of predictive genetic testing versus conventional clinical screening for familial adenomatous polyposis [J].

Bapat, B ;

Noorani, H ;

Cohen, Z ;

Berk, T ;

Mitri, A ;

Gallie, B ;

Pritzker, K ;

Gallinger, S ;

Detsky, AS .

GUT, 1999, 44 (05) :698-703

[7] Family history characteristics, tumor microsatellite instability and germline MSH2 and MLH1 mutations in hereditary colorectal cancer [J].

Bapat, BV ;

Madlensky, L ;

Temple, LKF ;

Hiruki, T ;

Redston, M ;

Baron, DL ;

Xia, L ;

Marcus, VA ;

Soravia, C ;

Mitri, A ;

Shen, W ;

Gryfe, R ;

Berk, T ;

Chodirker, BN ;

Cohen, Z ;

Gallinger, S .

HUMAN GENETICS, 1999, 104 (02) :167-176

[8] Changing causes of mortality in patients with familial adenomatous polyposis [J].

Belchetz, LA ;

Berk, T ;

Bapat, BV ;

Cohen, Z ;

Gallinger, S .

DISEASES OF THE COLON & RECTUM, 1996, 39 (04) :384-387

[9] Negative genetic test result in familial adenomatous polyposis - Clinical screening implications [J].

Berk, T ;

Cohen, Z ;

Bapat, B ;

Gallinger, S .

DISEASES OF THE COLON & RECTUM, 1999, 42 (03) :307-310

[10] Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome [J].

Bevan, S ;

Woodford-Richens, K ;

Rozen, P ;

Eng, C ;

Young, J ;

Dunlop, M ;

Neale, K ;

Phillips, R ;

Markie, D ;

Rodriguez-Bigas, M ;

Leggett, B ;

Sheridan, E ;

Hodgson, S ;

Iwama, T ;

Eccles, D ;

Bodmer, W ;

Houlston, R ;

Tomlinson, I .

GUT, 1999, 45 (03) :406-408

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