Abnormal vascular network complexity: a new phenotypic marker in hereditary non-polyposis colorectal cancer syndrome

de Felice, C.; Latini, G.; Bianciardi, G.; Parrini, S.; Fadda, G. M.; Marini, M.; Laurini, R. N.; Kopotic, R. J.
December 2003
Gut;Dec2003, Vol. 52 Issue 12, p1764
Academic Journal
Background: Hereditary non-polyposis colorectal cancer (HNPCC) (Lynch cancer family syndrome I (LCFS1) and II (LCFS2)) is one of the most common hereditary cancer disorders. HNPCC results from dominantly inherited germline mutations in mismatch repair (MMR) genes, leading to genomic instability and cancer. No predictive physical signs of HNPCC are available to date. Aims: increased complexity in tumour associated vascular growth has been reported. Here, we tested the hypothesis that an increased vascular network complexity is a phenotypic marker for LCFS2. Methods: Fourteen subjects from an LCFS2 kindred (gene carriers, n = 5; non-carriers, n = 9) and 30 controls were examined. Fractal dimension (D) at two scales (D(1-46), and D(1-15), tortuosity (minimum path dimension, Dmin), and relative Lempel-Ziev complexity (L-Z) of the vascular networks from the lower gingival and vestibular oral mucosa were measured. Results: LCFS2 networks exhibited a significantly increased overall complexity at both larger (D (1-46): 1.82 (0.04) v 1.68 (0.08); p<0.0001) and smaller (D(1-15): 1.51 (0.11) v 1.20 (0.09); p<0.0001) scales, increased destructured randomness (L-Z: 0.77 (0.09) v 0.56 (0.03); p<0.0001), and decreased vessel tortuosity (Dmin: 1.02 (0.03) v 1.07 (0.04); p=0.0005) compared with control patterns. The vascular networks of LCFS2 gene carriers showed higher complexity at the smaller scale (D (1-15): 1.59 (0.12) v 1.47 (0.07); p=0.034), and higher destructured randomness (L-Z: 0.85 (0.11) v 0.73 (0.05); p=0.013) than those of non-carriers. Conclusions: increased oral vascular network complexity is a previously unrecognised phenotypic marker for LCFS2, and is related to gene mutation carrier status.


Related Articles

  • Mutational Interference and the Progression of Muller's Ratchet When Mutations Have a Broad Range of Deleterious Effects. Söderberg, R. Jonas; Berg, Otto G. // Genetics;Oct2007, Vol. 177 Issue 2, p971 

    Deleterious mutations can accumulate in asexual haploid genomes through the process known as Muller's ratchet. This process has been described in the literature mostly for the case where all mutations are assumed to have the same effect on fitness. In the more realistic situation, deleterious...

  • Genetics: Pet project. Cyranoski, David // Nature;8/26/2010, Vol. 466 Issue 7310, p1036 

    The article looks at the behavioral disorders of dogs and the possibility that dog genes might hint at the pathways involved in human neuropsychiatric diseases. Many dogs have some kind of disorders in behavior and are believed by researchers that they reveal their genetic secrets more easily...

  • MYH polyposis: frequency in regional polyposis registers and implications for genetic testing and family management. Sampson, Julian; Dolwani, S.; Jones, S.; Eccles, D.; Ellis, A.; Evans, D.G.; Frayling, I.; Jordan, S.; Maher, E.; Mak, T.; Maynard, J.; Pigatto, F.; Shaw, J.; Cheadle, J. // Journal of Medical Genetics;Sep2003 Supplement, Vol. 40, pS23 

    Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP) are autosomal dominant disorders characterised by multiple colorectal adenomas and cancers. Both are caused by inherited mutations in the APC gene. Proactive family management through regional or national pedigree-based registers has...

  • Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases. Luk, Ho-Ming // Case Reports in Genetics;1/28/2016, p1 

    Epigenetic abnormalities in 15q11-13 imprinted region and UBE3A mutation are the two major mechanisms for molecularly confirmed Angelman Syndrome. However, there is 10% of clinically diagnosed Angelman Syndrome remaining test negative. With the advancement of genomic technology like array...

  • A comparison of the mutation spectra of Menkes disease and Wilson disease. Hsi, Gloria; Cox, Diane W. // Human Genetics;Jan2004, Vol. 114 Issue 2, p165 

    The genes for two copper-transporting ATPases, ATP7A and ATP7B, are defective in the heritable disorders of copper imbalance, Menkes disease (MNK) and Wilson disease (WND), respectively. A comparison of the two proteins shows extensive conservation in the signature domains, with amino acid...

  • Cx26 Gene Mutations in Idiopathic Progressive Hearing Loss. Ravecca, Francesca; Berrettini, Stefano; Forli, Francesca; Marcaccini, Mirella; Casani, Augusta; Baldinotti, Fulvia; Fogli, Antonella; Siciliano, Gabriel; Simi, Paola // Journal of Otolaryngology;Mar/Apr2005, Vol. 34 Issue 2, p126 

    Objective: The present study evaluated the frequency and type of mutations throughout the entire GJB2 region in a population of 39 patients affected with sporadic progressive "idiopathic" hearing loss. Material: A large series of patients suffering from progressive hearing loss underwent a...

  • Identification of the gene whose mutation leads to the morphological changes in the hypocotyl ofArabidopsis thaliana. Ogarkova, O.; Tomilov, A.; Tomilova, N.; Pogorelko, G.; Tarasov, V. // Russian Journal of Genetics;Feb2005, Vol. 41 Issue 2, p112 

    The results of genetic and molecular genetic analysis of line 176 ofArabidopsis thalianawith reduced hypocotyls obtained from a previously developed collection of insertion mutants, are presented. The examined mutation proved to be recessive and based on a single insertion of the T-DNA vector...

  • Novel germline mutation in the transmembrane region ofRETgene close to Cys634Ser mutation associated with MEN 2A syndrome. Poturnajova, M.; Altanerova, V.; Kostalova, L.; Breza, J.; Altaner, C. // Journal of Molecular Medicine;Apr2005, Vol. 83 Issue 4, p287 

    Two mutations on the same allele ofRETgene were revealed in a family with predisposition to multiple endocrine neoplasia (MEN) type 2A. The first mutation changes codon 634 from cysteine to serine. The second, a novel mutation in codon 641, changes alanine to serine in the transmembrane domain...

  • POG01 Anti-thymidine phosphorylase antibodies in the diagnosis of mitochondrial neurogastrointestinal encephalomyopathy. L Ginsberg // Journal of Neurology, Neurosurgery & Psychiatry;Nov2010, Vol. 81 Issue 11, pe48 

    BACKGROUND: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive condition, characterised by peripheral neuropathy, gastrointestinal dysmotility, asymptomatic cerebral white matter lesions and mitochondrial myopathy, and caused by mutations in the gene for...


Read the Article


Sign out of this library

Other Topics