Molecular analysis of the eighteen most frequent mutations in the BRCA 1 gene in 63 Chilean breast cancer families

Biological Research

Volumn 37, Issue 3, 2004, Pages 469-481

  Jara, Lilian ^a,d   Ampuero, Sandra ^b   Santibáñez, Eudocia ^a   Seccia, Lorena ^c   Rodríguez, Juan ^a   Bustamante, Mario ^a   Lay Son, Guillermo ^a   Ojeda, José Manuel ^b   Reyes, José Miguel ^c   Blanco, Rafael ^a  

^a UNIVERSITY OF CHILE   (Chile)

^b UNIVERSITY OF CHILE   (Chile)

^c NONE   (Chile)

^d NONE   (Chile)

Author keywords

4185delCAAG; BRCA1 gene; Chilean population; Frequent mutations; New mutation; Polymorphism

Indexed keywords

BRCA1 PROTEIN;

ADULT; ALLELE; ARTICLE; BREAST CANCER; CANCER CLASSIFICATION; CANCER RISK; CHILE; COHORT ANALYSIS; COLON CANCER; CONTROLLED STUDY; EXON; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HIGH RISK POPULATION; HUMAN; INTRON; LUNG CANCER; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONCOGENE; OVARY CANCER; PANCREAS CANCER; POLYMERASE CHAIN REACTION; PROSTATE CANCER; RESTRICTION FRAGMENT; SEQUENCE ANALYSIS; STATISTICAL ANALYSIS; STATISTICAL SIGNIFICANCE;

EID: 7244229678     PISSN: 07169760     EISSN: None     Source Type: Journal    
DOI: 10.4067/S0716-97602004000300011     Document Type: Article

References (60)

1. ABELIOVICH D, KADURI L, LERER I., WEIBERG N, AMIR G., SAGI M, ZLOTOGORA J, HECHING N, PERETZ T (1997) The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early onset breast cancer patients among Ashkenazi women. Am J Hum Genet 60: 505-514
2. AH MEW N, HAMEL N, GÁLVEZ M, AL-SAFFAR M, FOULKES WD (2002) Haplotype analysis of a BRCA1: 185delAG mutation in a Chilean family supports its Ashkenazi origins. Clin Genet 62: 151-156
3. BACKE J, HOFFERBERT S, SKAWRAN B, DORK T, STUHRMANN M, KARSTENS JH, UNTCH M, MEINDL A, BURGEMEISTER R, CHANG-CLAUDE J, WEBER BH (1999) Frequency of BRCA1 mutation 5382insC in German breast cancer. Gynecol Oncol 72: 402-406
4. BAR-SADE RB, KRUGLIKOVA A, MODAN B, GAK E, HIRSH-YECHEZKEL G, THEODOR L, NOVIKOV I, GERSHONI-BARUCH R, RISEL S, PAPA MZ, BENBARUCH G, FRIEDMAN E (1998) The 185delAG BRCA1 mutation originated before the dispersion of Jews in the Diaspora and is not limited to Ashkenazim. Hum Mol Genet 7: 801-805
5. BORG A, DORUM A, HEIMDAL K, MAEHLE L, HOVIG E, MOLLER P (1999) BRCA1 1675delA and 1135insA account for one third of Norwegian familial breast-ovarian cancer and are associated with later disease onset than less frequent mutations. Dis Markers 15: 19-84
6. BREAST CANCER INFORMATION CORE-DATABASE (BIC) http://www.nhgri.nih.gov/Intramural_research/Lab_tranfer/Bic/ http://www.ncbi.nlm.nih.gov/Genbank
7. CHOMCZYNSKY P, SACCHI N (1987) Single step method of RNA isolation by guanidium thiocyanate-phenol-cloroform extraction. Anal Biochem 162: 156-158
8. CLAES K, MACHACKOVA E, DE VOS M, POPPE B, DE PAEPE A, MESSIAEN L (1999) Mutation analysis of the BRCA1 and BRCA2 genes in the Belgian patient population and identification of a Belgian founder mutation BRCA1 IVS5+3 A>G. Dis Markers 15: 69-73
9. CRUZ-COKE R (1976) Origen y evolución étnica de la población chilena. Rev Med Chile 101: 365-368
10. DE SANJOSE S, LEONE M, BEREZ V, IZQUIERDO A, FONT R, BRUNET JM, LOUAT T, VILARDELL L, BORRAS J, VILADIU P, BOSCH FX, LENOIR GM, SINILNIKOVA OM (2003) Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: a population-based study. Int J Cancer 106: 588-593
11. DIEZ O, DOMENECH M, ALONSO MC, BRUNET J, SANZ J CORTÉS J, DEL RÍO E, BAIGET M (1998) Identification of the 185delAG BRCA1 mutation in a Spanish Gypsy population. Hum Genet 103: 707-708
12. DIEZ O, OSORIO A, ROBLEDO M, BARROSO A, DOMENECH M, CORTÉS J, ALBERTOS J, SANZ J, BRUNET J, SAN RAMÓN JM, ALONSO MC, BAIGET M, BENÍTEZ J (1999) Prevalence of BRCA1 and BRCA2 Jewish mutations in Spanish breast cancer patients. Br J Cancer 79: 1302-1303
13. DIEZ O, OSORIO A, DURÁN M, MARTÍNEZ-FERRANDIS JI, HOYA MD MDE L, SALAZAR R, VEGA A, CAMPOS B, RODRÍGUEZ-LÓPEZ R, VELASCO E, CHAVES J, DÍAZ-RUBIO E, JESÚS CRUZ J, TORRES M, ESTEBAN E, CERVANTES A, ALONSO C, SAN ROMÁN JM, GONZÁLEZ-SARMIENTO R, MINER C, CARRACEDO A, EUGENIA ARMENGOD M, CALDES T, BENÍTEZ J, BAIGET M (2003) Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects. Hum Mutat 22: 301-312
14. DURÁN M, ESTEBAN-CARDENOSA E, VELASCO E, INFANTE M, MINER C (2003) Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-Leon: identification of four novel truncating mutations. Hum Mutat 21: 448
15. ENCINA F (1983): Historia de Chile, Vol I. Santiago de Chile: Ercilla. pp: 51-59
16. FORD D, EASTON DF, STRATTON M, NAROD S, GOLDGAR D, DEVILEE P, BISHOP DT, WEBER B, LENOIR G, CHANG-CLAUDE J, SOBOL H, TEARE MD, STRUEWING J, ARASON A, SCHERNECK S, PETO J, REBBECK TR, TONIN P, NEUHAUSEN S, BARKARDOTTIR R, EYFJORD J, LYNCH H, PONDER BA, GAYTHER SA, BIRCH JM, LINDBLOM A, STOPPA-LYONNET D, BIGNON Y, BORG A, HAMANN U, HAITES N, SCOTT RJ, MAUGARD CM, VASEN H, SEITZ SA, CANNON-ALBRIGHT L, SCHOFIELD A, ZELADA-HEDMAN M. THE BREAST CANCER LINKAGE CONSORTIUM (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet 62: 676-689
17. FRIEDMAN LS, OSTERMEYER EA, SZABO CI, DOWD P, LYNCH ED, ROWELL SE, KING MC (1994) Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nat Genet 8: 399-404
18. FRIEDMAN LS, SZABO CI, OSTERMEYER EA, DOWD P, BUTLER L, PARK T, LEE MK, GOODE EL, ROWELL SE, KING MC (1995) Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families. Am J Hum Genet 57: 284-297
19. GAYTHER SA, WARREN W, MAZOYER S, RUSSELL PA, HARRINGTON PA, CHIANO M, SEAL S, HAMOUDI R, VAN RENSBURG EJ, DUNNING AM, LOVE R, EVANS G, EASTON D, CLAYTON D, STRATTON MR, PONDER BAJ (1995) Germline mutations of the BRCA1 gene in breast and ovarian cancer provide evidence for a genotype-phenotype correlation. Nat Genet 11: 428-433
20. INOUE R, FUKUTOMI T, USHIJIMA T, MATSUMOTO Y, SUGIMURA T, NAGAO M (1995) Germline mutation of BRCA1 in Japanese breast cancer. Cancer Res 55: 3521-3524
21. INSTITUTO NACIONAL DE ESTADÍSTICAS (INE): http://www.ine.cl http://www.ncbi.nlm.nih.gov/entrez/queryfcgi?db=OMIN
22. JAKUBOWSKA A, GORSKI B, BYRSKI T, HUZARSKI T, GRONWALD J, MENKISZAK J, CYBULSKI C, DEBNIAK T, HADACZEK P, SCOTT RJ, LUBINSKI J (2001) Detection of germline mutations in the BRCA1 gene by RNA-based sequencing. Hum Mutat 18: 149-156
23. JARA L, AMPUERO S, SECCIA L, BUSTAMANTE M, BLANCO R, SANTIBÁÑEZ E, REYES JM, OJEDA JM (2002) Frecuencia de la mutación 185delAG en el gen BRCA1 en mujeres chilenas sanas con antecedentes familiares de cáncer de mama. Rev med Chile 130: 1113-1123
24. JOHANNSSON O, OSTERMEYER EA, HAKANSSON S, FRIEDMAN LS, JOHANSSON U, SELLBERG G, BRONDUM-NIELSEN K, SELE V, OLSSON H, KING MC, BORG A (1996) Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden. Am J Hum Genet 58: 441-450
25. KATAGIRI T, EMI M, ITO I, KOBAYASHI K, YOSHIMOTO M, IWASE T, KASUMI F, MIKI Y, SKOLNICK MH, NAKAMURA Y (1996). Mutations in the BRCA1 gene in Japanese breast cancer patients. Hum Mutat 7: 334-339
26. LI SS, TSENG HM, YANG TP, LIU CH, TENG SJ, HUANG HW, CHEN LM, KAO HW, CHEN JH, TSENG JN, CHEN A, HOU MF, HUANG TJ, CHANG HT, MOK KT, TSAI JH (1999) Molecular characterization germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan. Hum Genet 104: 201-204
27. LLORT G, MUNOZ CY, TUSER MP, GUILLERMO IB, LLUCH JR, BALE AE, FRANCO MA (2002) Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain. Hum Mutat 19: 307
28. LYNCH HT (1981) Genetics and Breast Cancer. New York: Van Nostrand Kheinhold
29. MALONE KE, DALING JR, THOMPSON JD, OBRIEN CA, FRANCISCO LV, OSTRANDER EA (1998) BRCA1 mutations and breast cancer in the general populations analyses in women before age 35 years and in women before age 45 years with first-degree family history. JAMA 279: 922-929
30. MANGUOGLU AE, LULECI G, OZCELIK T, COLAK T, SCHAYEK H, AKAYDIN M, FRIEDMAN E (2003) Germline mutations in the BRCA1 and BRCA2 genes in Turkish breast/ovarian cancer patients. Hum Mutat 21: 444-445
31. MATSUSHIMA M, KOBAYASHI K, EMI M, SAITO H, SAITO J, SUZUMORI K, NAKAMURA Y (1995) Mutation analysis of the BRCA1 gene in 76 Japanese ovarian cancer patients: four germline mutations, but no evidence of somatic mutation. Hum Mol Genet 4: 1953-1956
32. MIKI Y, KATAGIRI T, KASUMI F, YOSHIMOTO T, NAKAMURAY (1996) Mutation analysis in the BRCA2 gene in primary breast cancers. Nat Genet 13: 245-247
33. NATHANSON KL, WOOSTER R, WEBER BL, NATHANSON KN (2001) Breast cancer genetics: what we know and what we need. Nat Med 7: 552-556
34. NEUHAUSEN SL (2000) Founder populations and their uses for breast cancer genetics. Breast Cancer Res 2: 77-81
35. OSORIO A, ROBLEDO M, ALBERTOS J, DIEZ O, ALONSO C, BAIGET M, BENÍTEZ J (1998) Molecular analysis of the six most recurrent mutations in the BRCA1 gene in 87 Spanish breast/ovarian cancer families. Cancer Lett 123: 153-158
36. OSORIO A, BARROSO A, MARTÍNEZ B, CEBRIAN A, SAN ROMÁN JM, LOBO F, ROBLEDO M, BENÍTEZ J (2000) Molecular analysis of the BRCA1 and BRCA2 genes in 32 breast and/or ovarian cancer Spanish families. Br J Cancer 82: 1266-1270
37. PALOMINO HM, PALOMINO H, CAUVI D (1990) Variación socio-genética en la susceptibilidad a las fisuras faciales en Santiago, Chile. Odont Chil 38: 86-92
38. PALOMINO H, LI SC, PALOMINO HM, BARTON SA, CHAKROBORTYU R (1991) Complex segregation analysis of facial clefting in Chile. Am J Hum Genet (suppl) 49: 154
39. PANGULURI RC, BRODY LC, MODALI R, UTLEY K, ADAMS-CAMPBELL L, DAY AA, WHITFIELD-BROOME C, DUNSTON GM (1999) BRCA1 mutations in African Americans. Hum genet 105: 28-31
40. PARKIN DM (1994) Cancer in developing countries. Cancer Surv 20: 519-561
41. PEELEN T, VAN VLIET M, PETRIJ-BOSCH A, MIEREMET R, SZABO C, VAN DEN OUWELAND AMW, HOGERVORST F, BROHET R, LIGTENBERG MJL, TEUGELS E, VAN DER LUIJT R, VAN DER HOUT AH, GILLE JJP, PALS G, JEDEMA I, OLMER R, VAN LEEUWEN I, NEWMAN B, PLANDSOEN M, VAN DER EST M, BRINK G, HAGEMAN S, ARTS PJW, BAKKER MM, WILLEMS HW, VAN DER LOOIJ E, NEYNS B, BONDUELLE M, JANSEN R, OOSTERWIJK JC, SIJMONS R, SMEETS HJM, VAN ASPEREN CJ, MEIJERS-HEIJBOER H, KLIJN JGM, DE GREVE J, KING MC, MENKO FH, BRUNNER HG, HALLEY D, VAN OMMEN GJB, VASEN HFA, CORNELISSE CJ, VAN T VEER LJ, DE KNIJFF P, BAKKER E, DEVILEE P (1997) A High Proportion of Novel Mutations in BRCA1 with Strong Founder Effects among Dutch and Belgian Hereditary Breast and Ovarian Cancer Families. Am J Hum Genet 60: 1013-1020
42. PERALTA O, JORQUERA A, RENCORET C, CASTILLO CD, SOLÉ J, CAMPODÓNICO Y (1995) Cáncer de Mama, Resultados del Programa de Pesquisa y Tratamiento del Servicio de Salud Central. Rev Chil Obstet Ginecol 60: 417
43. RUIZ-FLORES P, SINILNIKOVA OM, BADZIOCH M, CALDERÓN-GARCIDUENAS AL, CHOPIN S, FABRICE O, GONZÁLEZ-GUERRERO JF, SZABO C, LENOIR G, GOLDGAR DE, BARRERA-SALDANA HA (2002) BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico. Hum Mutat. 20: 474-475
44. SAXENA S, SZABO CI, CHOPIN S, BARJHOUX L, SINILNIKOVA O, LENOIR G, GOLDGAR DE, BHATANAGER D (2002) BRCA1 and BRCA2 in Indian breast cancer patients. Hum Mutat 20: 473-474
45. SCHUBERT EL, LEE MK, MEFFORD HC, ARGONZA RH, MORROW JE, HULL J, DANN JL, KING MC (1997) BRCA2 in American families with four or more cases of breast or ovarian cancer: recurrent and novel mutations, variable expression, penetrance, and the possibility of families not attributable to BRCA1 or BRCA2. Am J Hum Genet 60: 1031-1040
46. SEROVA OM, MAZOYER S, PUGET N, DUBOIS V, TONIN P, SHUGART YY, GOLDGAR D, NAROD SA, LYNCH HT, LENOIR (1997) Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes? Am J Hum Genet 60: 486-495
47. SHATTUCK-EIDENS D, MCCLURE M, SIMARD J, LABRIE F, NAROD S, COUCH F, HOSKINS K, WEBER B, CASTILLA L, ERDOS M, BRODY L, FRIEDMAN L, OSTERMEYER E, SZABO C, KING MC, JHANWAR S, OFFIT K, NORTON L, GILEWSKI T, LUBIN M, OSBORNE M, BLACK D, BOYD M, STEEL M, INGLES S, HAILE R, LINDBLOM A, OLSSON H, BORG A, BISHOP DT, SOLOMON E, RADICE P, SPATTI G, GAYTHER S, PONDER B, WARREN W, STRATTON M, LIU Q, FUJIMURA F, LEWIS C, SKOLNICK MH, GOLDGAR DE (1995) A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. JAMA 273: 535-541
48. SIMARD J, TONIN P, DUROCHER F, MORGAN K, ROMMENS J, GINGRAS S, SAMSON C, LEBLANC JF, BELANGER C, DION F, LIU Q, SKOLNICK M, GOLDGAR D, SHATTUCK-EIDENS D, F LABRIE, SA NAROD (1994) Common origin of BRCA1 mutations in Canadian breast and ovarian cancer families. Nat Genet 8: 392-398
49. SPITZER E, ABBASZADEGAN MR, SCHMIDT F, HAUSER A, BUWITT U, LAUTER FR, POTSCHICK K, KROCKER J, ELLING D, GROSSE R. (2000) Detection of BRCA1 and BRCA2 mutations in breast cancer families by a comprehensive two-stage screening procedure. Int J Cancer 85: 474-481.
50. STRUEWING JP, ABELIOVICH D, PERETZ T, AVISHAI N, KABACK MM, COLLINS FS, BRODY, LC (1995) The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet 11 198-200
51. SZABO CI, KING MC (1997) Population genetics of BRCA1 and BRCA2. Am J Hum Genet 60: 1013-1020
52. TONIN P, SEROVA O, LENOIR G, LYNCH H, DUROCHER F, SIMARD J, MORGAN K, NAROD S (1995) BRCA1 mutations in Ashkenazi Jewish women. Am J Hum Genet 57: 189
53. TRINCADO P, FARDELLA C, MAYERSON D, MONTERO L, OBRIEN A, BARRUETO K, GALLEGOS R (1999) Prevalencia de la deleción 185AG del gen BRCA1 en mujeres chilenas con cáncer de mama. Rev Med Chile 127: 19-22
54. VALENZUELA CY (1988) On sociogenetic clines. Ethol Sociobiol 9: 259-268
55. VALENZUELA CY, HARB Z (1977) Socioeconomic assortative mating in Santiago, Chile: As demonstrated using stochastic matrices of mother-child relationships applied to ABO blood groups. Soc Biol 24: 225-233
56. VALENZUELA CY, ACUÑA M, HARB Z (1987) Gradiente sociogenético en la población chilena. Rev Med Chile 115: 295-299
57. VAN DER LOOIJ M, WYSOCKA B, BROZEK I, JASSEM J, LIMON J, OLAH E (2000a) Founder BRCA1 mutations and two novel germline BRCA2 mutations in breast and/or ovarian cancer families from North-Eastern Poland. Hum Mutat 15: 480-481
58. VAN DER LOOIJ M, SZABO C, BESZNYAK I, LISZKA G, CSOKAY B, PULAY T, TOTH J, DEVILEE P, KING MC, OLAH E (2000b) Prevalence of founder BRCA1 and BRCA2 mutations among breast and ovarian cancer patients in Hungary. Int J Cancer 86: 737-740
59. VEGA A, TORRES M, MARTÍNEZ JI, RUIZ-PONTE C, BARROS F, CARRACEDO A (2002) Analysis of BRCA1 and BRCA2 in breast and breast/ovarian cancer families shows population substructure in the Iberian Peninsula. Ann Hum Genet 66 (Pt 1): 29-36
60. ZHI X, SZABO C, CHOPIN S, SUTER N, WANG QS, OSTRANDER EA, SINILNIKOVA OM, LENOIR GM, GOLDGAR D, SHI YR (2002) BRCA1 and BRCA2 sequence variants in Chinese breast cancer families. Hum Mutat 20: 474