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Clinical and genetic findings in an Ashkenazi Jewish population with colorectal neoplasms.
Cancer. 2005 Aug 15; 104(4):719-29.C

Abstract

BACKGROUND

The authors evaluated the frequency of the carrier status of three ancestral colorectal neoplasm-associated mutations (APC:I1307K, BLM(Ash), and MSH2*1906G>C) found in the Jewish population among a case series with documented colorectal neoplasms. They further compared family and personal histories plus environmental exposures of the carriers and noncarriers of the I1307K mutation and examined clinical differences with regard to the colorectal neoplasms and the specific molecular genetic changes in these lesions.

METHODS

Analyses were performed on tissue from stored paraffin-embedded blocks for the three germline mutations plus the KRAS mutation and APC loss of heterozygosity (LOH) and APC gene sequencing.

RESULTS

Fifty-four of the 429 individuals (12.6%) were found to carry the APC:I1307K mutation, whereas 4 (0.9%) were found to be heterozygous for the BLM(Ash) mutation and 3 (0.7%) were carriers of the MSH21906G>C* mutation. Carriers of the I1307K mutation did not appear to differ from noncarriers with regard to the number of neoplasms, patient age at detection, or tumor location within the colon. There was no significant difference noted between I1307K carriers and noncarriers with regard to the percentage of patients with first-degree relatives with colorectal carcinoma. A significant risk for APC LOH was found in lesions from carriers who smoked cigarettes compared with nonsmokers. The I1307K mutation was found to be clearly associated with a somatic additional adenine insertion in the region of codons 1306-1309, but other mutations in the region of codons 1277-1348 were found to be no more prevalent in carriers than in noncarriers.

CONCLUSIONS

In Jewish individuals previously diagnosed with a colorectal neoplasm, MSH2*1906G>C is uncommon but has been associated with carcinoma occurring at a young age. The BLM(Ash) mutation is uncommon and appears to be of little effect. The I1307K mutation is common among Jews who have had colorectal neoplasms, but overall it was found to have little effect clinically in the current study group. There may be a gene-environment interaction between the I1307K mutation and cigarette use.

Authors+Show Affiliations

Department of Medicine, Saint Barnabas Medical Center, Livingston, New Jersey, USA. pzauber@aol.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15959913

Citation

Zauber, N Peter, et al. "Clinical and Genetic Findings in an Ashkenazi Jewish Population With Colorectal Neoplasms." Cancer, vol. 104, no. 4, 2005, pp. 719-29.
Zauber NP, Sabbath-Solitare M, Marotta S, et al. Clinical and genetic findings in an Ashkenazi Jewish population with colorectal neoplasms. Cancer. 2005;104(4):719-29.
Zauber, N. P., Sabbath-Solitare, M., Marotta, S., Zauber, A. G., Foulkes, W., Chan, M., Turner, F., & Bishop, D. T. (2005). Clinical and genetic findings in an Ashkenazi Jewish population with colorectal neoplasms. Cancer, 104(4), 719-29.
Zauber NP, et al. Clinical and Genetic Findings in an Ashkenazi Jewish Population With Colorectal Neoplasms. Cancer. 2005 Aug 15;104(4):719-29. PubMed PMID: 15959913.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical and genetic findings in an Ashkenazi Jewish population with colorectal neoplasms. AU - Zauber,N Peter, AU - Sabbath-Solitare,Marlene, AU - Marotta,Stephen, AU - Zauber,Ann G, AU - Foulkes,William, AU - Chan,May, AU - Turner,Faye, AU - Bishop,D Timothy, PY - 2005/6/17/pubmed PY - 2005/9/28/medline PY - 2005/6/17/entrez SP - 719 EP - 29 JF - Cancer JO - Cancer VL - 104 IS - 4 N2 - BACKGROUND: The authors evaluated the frequency of the carrier status of three ancestral colorectal neoplasm-associated mutations (APC:I1307K, BLM(Ash), and MSH2*1906G>C) found in the Jewish population among a case series with documented colorectal neoplasms. They further compared family and personal histories plus environmental exposures of the carriers and noncarriers of the I1307K mutation and examined clinical differences with regard to the colorectal neoplasms and the specific molecular genetic changes in these lesions. METHODS: Analyses were performed on tissue from stored paraffin-embedded blocks for the three germline mutations plus the KRAS mutation and APC loss of heterozygosity (LOH) and APC gene sequencing. RESULTS: Fifty-four of the 429 individuals (12.6%) were found to carry the APC:I1307K mutation, whereas 4 (0.9%) were found to be heterozygous for the BLM(Ash) mutation and 3 (0.7%) were carriers of the MSH21906G>C* mutation. Carriers of the I1307K mutation did not appear to differ from noncarriers with regard to the number of neoplasms, patient age at detection, or tumor location within the colon. There was no significant difference noted between I1307K carriers and noncarriers with regard to the percentage of patients with first-degree relatives with colorectal carcinoma. A significant risk for APC LOH was found in lesions from carriers who smoked cigarettes compared with nonsmokers. The I1307K mutation was found to be clearly associated with a somatic additional adenine insertion in the region of codons 1306-1309, but other mutations in the region of codons 1277-1348 were found to be no more prevalent in carriers than in noncarriers. CONCLUSIONS: In Jewish individuals previously diagnosed with a colorectal neoplasm, MSH2*1906G>C is uncommon but has been associated with carcinoma occurring at a young age. The BLM(Ash) mutation is uncommon and appears to be of little effect. The I1307K mutation is common among Jews who have had colorectal neoplasms, but overall it was found to have little effect clinically in the current study group. There may be a gene-environment interaction between the I1307K mutation and cigarette use. SN - 0008-543X UR - https://www.unboundmedicine.com/medline/citation/15959913/Clinical_and_genetic_findings_in_an_Ashkenazi_Jewish_population_with_colorectal_neoplasms_ L2 - https://doi.org/10.1002/cncr.21230 DB - PRIME DP - Unbound Medicine ER -