Clues to the pathogenesis of familial colorectal cancer

Journal Article · Fri May 07 00:00:00 EDT 1993 · Science (Washington, D.C.); (United States)

DOI:https://doi.org/10.1126/science.8484121· OSTI ID:6333262

Aaltonen, L A; Peltomaeki, P; Pylkkaenen, L; Chappelle, A de la ^[1]; Leach, F S; Powell, S M; Jen, J; Hamilton, S R; Petersen, G M; Kinzler, K W; Vogelstein, B ^[2]; Sistonen, P ^[3]; Mecklin, J P ^[4]; Jaervinen, H ^[5]

---

1. Univ. of Helsinki (Finland)
2. Johns Hopkins Univ., Baltimore, MD (United States) Johns Hopkins Hospital, Baltimore, MD (United States)
3. Univ. of Helsinki (Finland) Finnish Red Cross Blood Transfusion Service, Helsinki (Finland)
4. Jyvaeskylae Central Hospital (Finland)
5. Helsinki Univ. Central Hospital (Finland)

A predisposition to colorectal cancer is shown to be linked to markers on chromosome 2 in some families. Molecular features of familial cancers were compared with those of sporadic colon cancers. Neither the familial nor sporadic cancers showed loss of heterozygosity for chromosome 2 markers, and the incidence of mutations in KRAS, P53, and APC was similar in the two groups of tumors. Most of the familial cancers, however, had widespread alterations in short repeated DNA sequences, suggesting that numerous replication errors had occurred during tumor development. Thirteen percent of sporadic cancers had identical abnormalities and these cancers shared biologic properties with the familial cases. These data suggest a mechanism for familial tumorigenesis different from that mediated by classic tumor suppressor genes. 22 refs., 2 figs., 2 tabs.

• OSTI ID: 6333262
• Journal Information: Science (Washington, D.C.); (United States), Vol. 260:5109; ISSN 0036-8075
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
DNA REPLICATION
ERRORS
HUMAN CHROMOSOME 2
GENETIC MAPPING
LARGE INTESTINE
NEOPLASMS
BIOLOGICAL MARKERS
DNA HYBRIDIZATION
GENOME MUTATIONS
HUMAN POPULATIONS
RFLPS
BODY
CHROMOSOMES
DIGESTIVE SYSTEM
DISEASES
GASTROINTESTINAL TRACT
HUMAN CHROMOSOMES
HYBRIDIZATION
INTESTINES
MAPPING
MUTATIONS
NUCLEIC ACID REPLICATION
ORGANS
POPULATIONS
550400* - Genetics