Report of a Novel Mutation in MLH1 Gene in a Hispanic Family from Puerto Rico Fulfilling Classic Amsterdam Criteria for Lynch Syndrome
In Puerto Rico, colorectal cancer (CRC) represents the second leading cause of cancer in men and women. Familial CRC accounts for 10–15% of the total CRC cases, while Lynch syndrome accounts for approximately 2–4% of cases. Limited information is available about the prevalence, clinical manifestat...
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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | Gastroenterology Research and Practice |
| Online Access: | http://dx.doi.org/10.1155/2014/527946 |
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| author | Juan M. Marqués-Lespier Yaritza Diaz-Algorri Maria Gonzalez-Pons Marcia Cruz-Correa |
| author_facet | Juan M. Marqués-Lespier Yaritza Diaz-Algorri Maria Gonzalez-Pons Marcia Cruz-Correa |
| author_sort | Juan M. Marqués-Lespier |
| collection | DOAJ |
| description | In Puerto Rico, colorectal cancer (CRC) represents the second leading cause of cancer in men and women. Familial CRC accounts for 10–15% of the total CRC cases, while Lynch syndrome accounts for approximately 2–4% of cases. Limited information is available about the prevalence, clinical manifestations, and genetic mutations of hereditary CRC in US Hispanic individuals. In this paper we report a novel mutation in the hMLH1 gene in a Puerto Rican Hispanic family with Lynch syndrome recruited through the Puerto Rico Familial Colorectal Cancer Registry (PURIFICAR). Our proband was identified by applying Amsterdam and Bethesda criteria for Lynch syndrome, analysis of protein expression by immunohistochemistry, and genetic sequencing of the mismatch repair genes. A novel mutation at c.2044_2045 in hMLH1 consisting of the deletion of two consecutive nucleotides (AT) at exon 18 was identified. This deletion causes a frameshift in the protein coding sequence at p.682 resulting in premature termination and a truncated MLH1 protein. To our knowledge, this mutation has not been previously reported in the literature. The detection of this novel mutation in MLH1 further emphasizes the need for genetic testing in at-risk patients for hereditary CRC from various ethnic and racial backgrounds. |
| format | Article |
| id | doaj-art-a7b10111d3bb4f41bc69e62e75b9d8d6 |
| institution | Kabale University |
| issn | 1687-6121 1687-630X |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Gastroenterology Research and Practice |
| spelling | doaj-art-a7b10111d3bb4f41bc69e62e75b9d8d62025-02-03T01:22:28ZengWileyGastroenterology Research and Practice1687-61211687-630X2014-01-01201410.1155/2014/527946527946Report of a Novel Mutation in MLH1 Gene in a Hispanic Family from Puerto Rico Fulfilling Classic Amsterdam Criteria for Lynch SyndromeJuan M. Marqués-Lespier0Yaritza Diaz-Algorri1Maria Gonzalez-Pons2Marcia Cruz-Correa3Department of Medicine, School of Medicine, University of Puerto Rico Medical Sciences Campus, San Juan, PR 00936-5067, USAUniversity of Puerto Rico Comprehensive Cancer Center, P.O. Box 365067, San Juan, PR 00936-5067, USAUniversity of Puerto Rico Comprehensive Cancer Center, P.O. Box 365067, San Juan, PR 00936-5067, USAUniversity of Puerto Rico Comprehensive Cancer Center, P.O. Box 365067, San Juan, PR 00936-5067, USAIn Puerto Rico, colorectal cancer (CRC) represents the second leading cause of cancer in men and women. Familial CRC accounts for 10–15% of the total CRC cases, while Lynch syndrome accounts for approximately 2–4% of cases. Limited information is available about the prevalence, clinical manifestations, and genetic mutations of hereditary CRC in US Hispanic individuals. In this paper we report a novel mutation in the hMLH1 gene in a Puerto Rican Hispanic family with Lynch syndrome recruited through the Puerto Rico Familial Colorectal Cancer Registry (PURIFICAR). Our proband was identified by applying Amsterdam and Bethesda criteria for Lynch syndrome, analysis of protein expression by immunohistochemistry, and genetic sequencing of the mismatch repair genes. A novel mutation at c.2044_2045 in hMLH1 consisting of the deletion of two consecutive nucleotides (AT) at exon 18 was identified. This deletion causes a frameshift in the protein coding sequence at p.682 resulting in premature termination and a truncated MLH1 protein. To our knowledge, this mutation has not been previously reported in the literature. The detection of this novel mutation in MLH1 further emphasizes the need for genetic testing in at-risk patients for hereditary CRC from various ethnic and racial backgrounds.http://dx.doi.org/10.1155/2014/527946 |
| spellingShingle | Juan M. Marqués-Lespier Yaritza Diaz-Algorri Maria Gonzalez-Pons Marcia Cruz-Correa Report of a Novel Mutation in MLH1 Gene in a Hispanic Family from Puerto Rico Fulfilling Classic Amsterdam Criteria for Lynch Syndrome Gastroenterology Research and Practice |
| title | Report of a Novel Mutation in MLH1 Gene in a Hispanic Family from Puerto Rico Fulfilling Classic Amsterdam Criteria for Lynch Syndrome |
| title_full | Report of a Novel Mutation in MLH1 Gene in a Hispanic Family from Puerto Rico Fulfilling Classic Amsterdam Criteria for Lynch Syndrome |
| title_fullStr | Report of a Novel Mutation in MLH1 Gene in a Hispanic Family from Puerto Rico Fulfilling Classic Amsterdam Criteria for Lynch Syndrome |
| title_full_unstemmed | Report of a Novel Mutation in MLH1 Gene in a Hispanic Family from Puerto Rico Fulfilling Classic Amsterdam Criteria for Lynch Syndrome |
| title_short | Report of a Novel Mutation in MLH1 Gene in a Hispanic Family from Puerto Rico Fulfilling Classic Amsterdam Criteria for Lynch Syndrome |
| title_sort | report of a novel mutation in mlh1 gene in a hispanic family from puerto rico fulfilling classic amsterdam criteria for lynch syndrome |
| url | http://dx.doi.org/10.1155/2014/527946 |
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