Clustering of cancer‐related mutations in a subset of  BRCA1  alleles: A study in the Spanish population | Zendy

de La hoya Miguel | Zendy; Sulleiro Sara | Zendy; Osorio Ana | Zendy; Díez Orland | Zendy; Baiget Montserrat | Zendy; Benítez Javier | Zendy; DíazRubio Eduardo | Zendy; Caldés Trinidad | Zendy

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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.

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