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Clustering of cancer‐related mutations in a subset of BRCA1 alleles: A study in the Spanish population
Author(s) -
de La hoya Miguel,
Sulleiro Sara,
Osorio Ana,
Díez Orland,
Baiget Montserrat,
Benítez Javier,
DíazRubio Eduardo,
Caldés Trinidad
Publication year - 2002
Publication title -
international journal of cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.475
H-Index - 234
eISSN - 1097-0215
pISSN - 0020-7136
DOI - 10.1002/ijc.10527
Subject(s) - genetics , allele , genotyping , biology , mutation , germline mutation , germline , population , allele frequency , genotype , gene , medicine , environmental health
We have observed that the frequency of D17S855 short alleles (139 bp and 141 bp) in individuals carrying BRCA1 germline mutations is higher than in controls (54% vs. 31%, p = 0.0004). By unambiguously establishing mutation/D17S855 phase in 18 BRCA1‐positive families, we find that most (11 of 15 different mutations) BRCA1 defects are linked to chromosomes with short alleles (OR = 8.21, 95% CI 1.97–39.32, p = 0.0007). We suggest that BRCA1 mutations are not randomly distributed but clustered in a subset of BRCA1 alleles that can be identified by D17S855 genotyping. Further analysis involving a larger set of mutations and different populations are needed to clarify the relevance of this unexpected finding. © 2002 Wiley‐Liss, Inc.