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Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations.
Hum Mutat. 2002 Jun; 19(6):664.HM

Abstract

Familial adenomatous polyposis (FAP) is caused by germline mutations in the APC gene. This study included 71 Israeli families referred for molecular analysis of the APC gene. Analysis was performed by the protein truncation test (PTT) of exon 15, and if negative, by direct sequencing of exon 1 to 14. Mutations were found in 36 (50.7%) probands. Mutation detection rates depended on the pattern of referral, such that among the 40 probands referred from the Service for Hereditary Cancer the mutation detection rate was 70%, whereas among the 31 probands referred by other gastroenterologists detection rate was significantly lower (25.8%). Of the 36 mutations detected, 21 were within exon 15, 13 within exons 1 to 14 and 2 were newly-described splicing mutations in introns 9 and 14. A relatively high proportion of the mutations was detected in exon 9 (6/36), five of them newly described. Altogether, we describe here 17 new mutations. Within the two major ethnic groups in Israel, patients of Ashkenazi and non-Ashkenazi origin, there was no significant differences in the mutation detection rate or the distribution of mutations within the APC gene. No founder mutation was detected in any of these populations. Our data confirm that higher detection rates may be expected in patients referred by clinical services specializing in hereditary colon cancer. These results further underscore the importance of complete analysis of all exons and exon/intron boundaries, in order to achieve maximal detection rate in patients suspected of FAP.

Authors+Show Affiliations

Department of Surgery B, Tel Aviv Sourasky Medical Center, Israel.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

12007223

Citation

Gavert, Nancy, et al. "Molecular Analysis of the APC Gene in 71 Israeli Families: 17 Novel Mutations." Human Mutation, vol. 19, no. 6, 2002, p. 664.
Gavert N, Yaron Y, Naiman T, et al. Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations. Hum Mutat. 2002;19(6):664.
Gavert, N., Yaron, Y., Naiman, T., Bercovich, D., Rozen, P., Shomrat, R., Legum, C., & Orr-Urtreger, A. (2002). Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations. Human Mutation, 19(6), 664.
Gavert N, et al. Molecular Analysis of the APC Gene in 71 Israeli Families: 17 Novel Mutations. Hum Mutat. 2002;19(6):664. PubMed PMID: 12007223.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations. AU - Gavert,Nancy, AU - Yaron,Yuval, AU - Naiman,Tova, AU - Bercovich,Dani, AU - Rozen,Paul, AU - Shomrat,Ruth, AU - Legum,Cyril, AU - Orr-Urtreger,Avi, PY - 2002/5/15/pubmed PY - 2002/6/28/medline PY - 2002/5/15/entrez SP - 664 EP - 664 JF - Human mutation JO - Hum. Mutat. VL - 19 IS - 6 N2 - Familial adenomatous polyposis (FAP) is caused by germline mutations in the APC gene. This study included 71 Israeli families referred for molecular analysis of the APC gene. Analysis was performed by the protein truncation test (PTT) of exon 15, and if negative, by direct sequencing of exon 1 to 14. Mutations were found in 36 (50.7%) probands. Mutation detection rates depended on the pattern of referral, such that among the 40 probands referred from the Service for Hereditary Cancer the mutation detection rate was 70%, whereas among the 31 probands referred by other gastroenterologists detection rate was significantly lower (25.8%). Of the 36 mutations detected, 21 were within exon 15, 13 within exons 1 to 14 and 2 were newly-described splicing mutations in introns 9 and 14. A relatively high proportion of the mutations was detected in exon 9 (6/36), five of them newly described. Altogether, we describe here 17 new mutations. Within the two major ethnic groups in Israel, patients of Ashkenazi and non-Ashkenazi origin, there was no significant differences in the mutation detection rate or the distribution of mutations within the APC gene. No founder mutation was detected in any of these populations. Our data confirm that higher detection rates may be expected in patients referred by clinical services specializing in hereditary colon cancer. These results further underscore the importance of complete analysis of all exons and exon/intron boundaries, in order to achieve maximal detection rate in patients suspected of FAP. SN - 1098-1004 UR - https://www.unboundmedicine.com/medline/citation/12007223/Molecular_analysis_of_the_APC_gene_in_71_Israeli_families:_17_novel_mutations_ L2 - https://doi.org/10.1002/humu.9037 DB - PRIME DP - Unbound Medicine ER -