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

被引：5

作者：

de la Hoya, M

Sulleiro, S

Osorio, A

Díez, O

Baiget, M

Benítez, J

Díaz-Rubio, E

Caldés, T

机构：

[1] Univ Madrid, Hosp San Carlos, Mol Oncol Lab, Madrid 28040, Spain

[2] Natl Canc Ctr, CNIO, Madrid, Spain

[3] Hosp Santa Creu I San Pau, Serv Genet, Barcelona, Spain

[4] Univ Madrid, Hosp San Carlos, Dept Med Oncol, Madrid 28040, Spain

来源：

INTERNATIONAL JOURNAL OF CANCER | 2002年 / 100卷 / 05期

关键词：

BRCA1; D17S855; OR; CI; genetic testing; Spain;

D O I：

10.1002/ijc.10527

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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. (C) 2002 Wiley-Liss, Inc.

引用

页码：618 / 619

页数：2

共 8 条

[1] HIGH-DENSITY GENETIC-MAP OF THE BRCA1 REGION OF CHROMOSOME-17Q12-Q21 [J].

ANDERSON, LA ;

FRIEDMAN, L ;

OSBORNELAWRENCE, S ;

LYNCH, E ;

WEISSENBACH, J ;

BOWCOCK, A ;

KING, MC .

GENOMICS, 1993, 17 (03) :618-623

[2]

de la Hoya M, 2001, INT J CANCER, V91, P137, DOI 10.1002/1097-0215(20010101)91:1<137::AID-IJC1020>3.0.CO

[3]

2-R

[4] Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families:: Implications for genetic testing [J].

de la Hoya, M ;

Osorio, A ;

Godino, J ;

Sulleiro, S ;

Tosar, A ;

Perez-Segura, P ;

Fernandez, C ;

Rodríguez, R ;

Díaz-Rubio, E ;

Benítez, J ;

Devilee, P ;

Caldés, T .

INTERNATIONAL JOURNAL OF CANCER, 2002, 97 (04) :466-471

[5]

Díez O, 1999, INT J CANCER, V83, P465, DOI 10.1002/(SICI)1097-0215(19991112)83:4<465::AID-IJC5>3.0.CO

[6]

2-4

[7] A STRONG CANDIDATE FOR THE BREAST AND OVARIAN-CANCER SUSCEPTIBILITY GENE BRCA1 [J].

MIKI, Y ;

SWENSEN, J ;

SHATTUCKEIDENS, D ;

FUTREAL, PA ;

HARSHMAN, K ;

TAVTIGIAN, S ;

LIU, QY ;

COCHRAN, C ;

BENNETT, LM ;

DING, W ;

BELL, R ;

ROSENTHAL, J ;

HUSSEY, C ;

TRAN, T ;

MCCLURE, M ;

FRYE, C ;

HATTIER, T ;

PHELPS, R ;

HAUGENSTRANO, A ;

KATCHER, H ;

YAKUMO, K ;

GHOLAMI, Z ;

SHAFFER, D ;

STONE, S ;

BAYER, S ;

WRAY, C ;

BOGDEN, R ;

DAYANANTH, P ;

WARD, J ;

TONIN, P ;

NAROD, S ;

BRISTOW, PK ;

NORRIS, FH ;

HELVERING, L ;

MORRISON, P ;

ROSTECK, P ;

LAI, M ;

BARRETT, JC ;

LEWIS, C ;

NEUHAUSEN, S ;

CANNONALBRIGHT, L ;

GOLDGAR, D ;

WISEMAN, R ;

KAMB, A ;

SKOLNICK, MH .

SCIENCE, 1994, 266 (5182) :66-71

[8] Molecular analysis of the BRCA1 and BRCA2 genes in 32 breast and/or ovarian cancer Spanish families [J].

Osorio, A ;

Barroso, A ;

Martínez, B ;

Cebrián, A ;

San Román, JM ;

Lobo, F ;

Robledo, M ;

Benítez, J .

BRITISH JOURNAL OF CANCER, 2000, 82 (07) :1266-1270

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