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Wisconsin consanguinity studies. II: Familial adenocarcinomatosis.
1Department of Obstetrics and Gynecology, University of Wisconsin Medical School, Sinai-Samaritan Medical Center, Milwaukee.
American Journal of Medical Genetics
|May 1, 1989
Summary
In this family, adenocarcinoma, a type of cancer, appears to be inherited as an autosomal recessive trait, particularly in individuals with consanguineous parents. This suggests a potential genetic link to proto-oncogenes.
Area of Science:
- Genetics
- Oncology
- Human Genetics
Background:
- Family cancer predisposition is often autosomal dominant.
- Consanguinity, or mating between related individuals, can increase the risk of recessive genetic disorders.
- The role of consanguinity in cancer inheritance patterns requires further investigation.
Purpose of the Study:
- To investigate the inheritance pattern of adenocarcinoma in a large pedigree with multiple consanguineous unions.
- To determine if consanguinity influences the occurrence and presentation of cancer within this family.
- To explore the potential genetic mechanisms, such as proto-oncogene segregation, underlying cancer predisposition.
Main Methods:
- Pedigree analysis of over 1,000 individuals across multiple generations.
- Calculation of inbreeding coefficients for ten consanguineous unions.
- Correlation of cancer incidence, including adenocarcinoma and breast cancer, with consanguineous parentage and age of onset.
Main Results:
- Adenocarcinoma occurred in 16 of 18 cases among individuals with consanguineous parentage (inbreeding coefficients 0.02–0.17).
- Multiple primary carcinomas and early-onset cancers were exclusively observed in offspring of consanguineous unions.
- Breast cancer cases were among relatives but not of consanguineous parentage.
Conclusions:
- Adenocarcinoma in this extended family segregates as an autosomal recessive trait.
- Consanguinity appears to increase the risk and severity of adenocarcinoma in this pedigree.
- Homozygosity for a segregating proto-oncogene due to consanguineous unions is a plausible explanation.