Report of a Novel Mutation in MLH1 Gene in a Hispanic Family from Puerto Rico Fulfilling Classic Amsterdam Criteria for Lynch Syndrome
Joint Authors
Marqués-Lespier, Juan M.
Diaz-Algorri, Yaritza
Gonzalez-Pons, Maria
Cruz-Correa, Marcia
Source
Gastroenterology Research and Practice
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-10-20
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Marqués-Lespier, Juan M.& Diaz-Algorri, Yaritza& Gonzalez-Pons, Maria& Cruz-Correa, Marcia. 2014. 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،Vol. 2014, no. 2014, pp.1-7.
https://search.emarefa.net/detail/BIM-1035890
Modern Language Association (MLA)
Marqués-Lespier, Juan M.…[et al.]. 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 No. 2014 (2014), pp.1-7.
https://search.emarefa.net/detail/BIM-1035890
American Medical Association (AMA)
Marqués-Lespier, Juan M.& Diaz-Algorri, Yaritza& Gonzalez-Pons, Maria& Cruz-Correa, Marcia. 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. 2014. Vol. 2014, no. 2014, pp.1-7.
https://search.emarefa.net/detail/BIM-1035890
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1035890