Mutation analysis of a Mauritian hereditary breast cancer family reveals the BRCA2 6503deITT mutation previously found to recur in different ethnic populations. Khittoo, G., Manning, A., Mustun, H., Appadoo, J., Venkatasamy, S., Fagoonee, I., Ghadirian, P., & Tonin, P., N. Hum Hered, 52(1):55-8., 2001.
abstract   bibtex   
Mauritius, a small island some 855 km off the east coast of Madagascar, has a multiethnic population of about 1.2 million with a high population density of about 611 per km(2). The recent industrialization of the island seems to have been accompanied, in less than 10 years, by an increase of at least 30% in breast cancer incidence. We have detected the BRCA2 6503delTT mutation in two sisters of the same family of Indian origin but living in Mauritius for at least five generations. This mutation has been found to recur in geographically diverse populations and haplotype analysis has shown a common ancestry. The haplotype of the mutation found in the Mauritian family differs from that found in other populations harbouring the same mutation, suggesting that the BRCA2 6503delTT mutation most likely arose independently.
@article{
 title = {Mutation analysis of a Mauritian hereditary breast cancer family reveals the BRCA2 6503deITT mutation previously found to recur in different ethnic populations},
 type = {article},
 year = {2001},
 identifiers = {[object Object]},
 keywords = {*Chromosomes, Human, Pair 13,*Germ-Line Mutation,BRCA2 Protein,Breast Neoplasms/*genetics,Case Report,Female,Gene Deletion,Haplotypes,Human,Male,Mauritius,Middle Age,Neoplasm Proteins/*genetics,Pedigree,Support, Non-U.S. Gov't,Transcription Factors/*genetics},
 pages = {55-8.},
 volume = {52},
 id = {b5cc30bc-0c45-33bd-acd5-0d1ae8d4272a},
 created = {2017-06-19T13:42:10.978Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:42:11.086Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article</m:note>},
 abstract = {Mauritius, a small island some 855 km off the east coast of Madagascar, has a multiethnic population of about 1.2 million with a high population density of about 611 per km(2). The recent industrialization of the island seems to have been accompanied, in less than 10 years, by an increase of at least 30% in breast cancer incidence. We have detected the BRCA2 6503delTT mutation in two sisters of the same family of Indian origin but living in Mauritius for at least five generations. This mutation has been found to recur in geographically diverse populations and haplotype analysis has shown a common ancestry. The haplotype of the mutation found in the Mauritian family differs from that found in other populations harbouring the same mutation, suggesting that the BRCA2 6503delTT mutation most likely arose independently.},
 bibtype = {article},
 author = {Khittoo, G and Manning, A and Mustun, H and Appadoo, J and Venkatasamy, S and Fagoonee, I and Ghadirian, P and Tonin, P N},
 journal = {Hum Hered},
 number = {1}
}

Downloads: 0