Colorectal cancer is mostly sporadic, but 20-25% of cases have a family history of the disease. Less than 5% of these familial cases are due to known genetic mutations, while the rest are related to epimutations - heritable chromosomal alterations caused by methylation changes without direct DNA sequence changes. Environmental risk factors can influence methylation patterns and make chromosomal changes hereditary. Genetic and epigenetic testing has not been widely available until recently. Colonoscopy remains the primary screening method, with timing based on family history which is crucial for determining systematic prevention strategies. The author reviews the literature and their experience to suggest optimal screening timings based on family cancer history.

1. Cancro del colon-retto: biotecnologie e
prevenzione nell’eredità di Darwin e Lamarck
Emilio Gentile Warschauer
CHIRURGIA DEL COLON-RETTO-ANO
Osp Ital Chir
2011; 17: 368-73
Colorectal cancer: biotechnology and prevention in
the inheritance of Darwin and Lamarck
Colorectal cancer (CRC) is sporadic in the majority of cases,
except in 20-25% of patients with a family history of the disease.
Less than 5% of these cases are related to well known genetic mutations,
the others to epimutations: heritable chromosomal alterations
characterized by methylation of CpG sites without a change
in DNA sequence. Methylation is modulated by environmental risk
factors: in this way chromosomal alterations become hereditary.
Genetic and epigenetic tests have not been available for many
years. Endoscopy is still the most widely used method for CRC
screening, based on family history of the disease which is of paramount
importance to determine the timing for systematic prevention.
A review of the literature and analysis of the author’s personal
experience have been performed to suggest the timing for screening
based on a family history of CRC.
Key words: colorectal cancer, epigenetic, epimutation, endoscopy.
Dott. Emilio Gentile Warschauer
S.H.R.O. Institute for Cancer Research and Molecular Medicine
BioLife Science Bldg, Suite 431
1900 N. 12th Street - Philadelphia, PA 19122 (USA)
Tel./Fax: +1 (215) 204-9520
E-mail: egentilew@temple.edu - egentilew@fondromachirurgia.it
Si ringraziano la dott.ssa Valentina Caracciolo ed il prof. Antonio
Giordano, S.H.R.O Institute for Cancer Research and Molecular Medicine
and Center for Biotechnology, College of Science and Technology,
BioLife Science, Temple University, Philadelphia (USA) e il dott. Antonello
Trecca, responsabile del Servizio di Endoscopia Diagnostica ed
Operativa, U.S.I. (Roma).