EL CÁNCER DE MAMA HEREDITARIO
Abstract
importancia del CM como problema de saludpública se refleja en el hecho de que cerca de
trescientas mil mujeres mueren por esta enfermedad
cada año en el mundo(1). En los Estados Unidos de
Norteamérica (EUA) el CM se incrementó de una
manera sostenida desde 1930 con un aumento
promedio de 1.2% por año(2). En ese país el CM
representa el 32% de todos los cánceres incidentes y
como consecuencia de esto, 50,000 mujeres mueren
anualmente. Sin embargo, estudios recientes revelan
una disminución en la mortalidad en los últimos
años(3). Aunque se piensa que el aumento en la frecuencia es debido al
envejecimiento de la población y al advenimiento de mejores métodos de diagnóstico
(especialmente la mamografía). También se reconoce el papel que pueden jugar
cambios en el medio ambiente y en el estilo de vida, en el incremento de la frecuencia
del CM. Por otro lado, algunos de estos mismos factores y la aparición de mejores
alternativas de tratamiento, se han postulado como responsables de la disminución en
la mortalidad(4).
Downloads
References
Pisani P, DM Parkin, and F Bray, Ferlay J.1999 Estimates of the Worldwide Mortality
from Cancers in 1990. Int J Cancer Sep 24;83(1):18-29.
Holford TR, GC Roush, and LA McKay.1991 Trends in Female Breast Cancer in
Connecticut and the United States. J Clin Epidemiol ; 44(1):29-39.
Chu KC, RE Tarone, LG Kessler, LA Ries, BF Hankey, BA Miller, and BK Edwars.
Recent Trends in U.S.1996 Breast Cancer Incidence, Survival, and Mortality Rates. J
Natl Cancer InstNov 6;88(21):1571-9
Vogelstein B, and KW Kinzler. 1998 The Genetic Basis of Human Cancer. McGraw-
Hill. Couch FJ., Weber BL. Chapter: Breast Cancer. ; 30:537-63.
Bondy ML, MR Spitz, S Halabi, JJ Fueger, and VJ Vogel. 1992 Low Incidence of
Familial Breast Cancer Among Hispanic Women. Cancer Causes and Control , 3:377-82
Mohar C, M Frias-Mendevil, y L Suchil-Bernal-. 1997 Epidemiologia Descriptiva de
Cáncer en el Instituto Nacional de Cancerologia de México. Salud Pública de México ;
(4): 253-58.
Greene MH. 1997 Genetics of Breast Cancer. Mayo Clin Proc ; 72:54-65
Nelson CL, TA Sellers, SS Rich, JD Potter, PG McGovern, and LH Kushi. 1993 Familial
Clustering of Colon, Breast, Uterine and Ovarian Cancers as Assessed by Family
History.Genet Epidemiol ; 10:235-44.
Anderson DE and MD Badzioch. 1993 Familial Breast Cancer Risk: Effects of Prostate
and Other Cancers. Cancer ; 72(1):114-119.
Hill ADK, JM Doyle, EW McDermott, and NJ O'Higgins. 1997 Hereditary Breast
Cancer. B J Surg ; 84:1334-39.
Price MA, CC Tennant, RC Smith, SJ Kennedy, PN Butow, MB Kossoff, and SM
Dunn. 1999 Predictors of Breast Cancer in Women Recalled Following Screening. Aust
N Z J Surg Sep; 69(9):639-46.
Wooster R, G Bignell, J Lancaster, S Swift, S Seal, J Manglon, N Collins, S Gregory,
C Gumbs, and G Micklem. 1995 Identification of the Breast Cancer Susceptibility Gene
BRCA2.Nature ; 378: 789-92
Hill ADK, et al, op cit.
Vogelstein B et al, op cit
Hill ADK, et al, op cit.
Claus EB, N Risch,and WD Thompson.1991 Genetic Analysis of Breast Cancer in the
Cancer and Steroid Hormone Study. Am J Hum Genet ; 48:232-242.
Price MA, et al, op cit.
Narod SA, J Feuteun, HT Lynch, P Watson, T Conway, J Lynch, and GM Lenoir.
Familial Breast-Ovarian Cancer Locus on Chromosome 17q21-21. Lancet Jul 13;
(8759):82-83.
Tavtigian SV, J Simard, J Rommens, F Couch, D Shattuck-Eidens, S Neunhausen, S
Merajver, S Thorlacius, D Stoppa-Lyonnet, C Belanger, R Bell, S Berry, R Bogden, Q
Chen, T Davis, M Dumont, C Frye, T Hattier, S Jammulapati, T Janecki, P Jiang, R
Kehrer, JF Leblanc, and DE Goldgar. 1996 The Complete BRCA2 Gene and Mutations in
Chromosome 13q-linked Kindreds. Nat Genet 12(3):333-37.
Miki Y, J Swensew, D Shattuck-Eidens, A Futreal, K Harshman, S Tavtigian, Q Liu,
C Cochran, LM Bennett, W A Ding Strong 1994 Candidate for the Breast and Ovarian
Cancer Susceptibility Gene BRCA1. Science ; 266:66-71.
Easton DE, DT Bishop, D Ford, and GP Crockford and The Breast Cancer Linkage
Consortium. 1993 Genetic Linkage Analysis in Familial Breast and Ovarian Cancer.
Results from 214 Families. Am J Hum Genet ; 52(4): 678-701.
Struewing JP, P Hartge, S Wacholder, SM Baker, M Berlin, M Mc Adams, MM
Timmerman, LC Brody, and MA Tucker 1997 The Risk of Cancer Associated with
Specific Mutations of BRCA1 and BRCA2 Among Ashkenazi Jews. New Eng J Med ;
(20):1401-08.
Wooster R, et al, op cit.
Easton DF, D Ford, and DT Bishop.1995 Breast and ovarian cancer incidence in
BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet. Jan;
(1):265-71.
Narod SA, et al, op cit.
Gayther SA, W Warren, S Mazoyer, PA Russel, PA Harrington, M Chiano, S Seal, R
Hamoudi, EJ van Rensburg, and AM Dunning. 1995 Germ-Line Mutations of the BRCA1
Gene in Breast-Ovarian Cancer Families Provide Evidence for a Genotype/Fenotype
Correlation.Nat Genet ; 11(4):428-33.
Ford D, DF Easton, DT Bishop, SA Narod, and DE Goldgar. Breast Cancer Linkage
Consortium: Risk of Cancer in BRCA1 Mutation Carriers. Lancet 1994; 343(8899):692-
Chen Y, CF Chen, DJ Riley, DC Allred, PI Chen, D VonHoff, CK Osborne, and HW
Lee. 1995 Aberrant Subcelular Localization of BRCA1 in Breast Cancer. Science ;
(5237):789-91.
Smith SA, DF Easton, DGR Evans, and BAJ Ponder. 1992 Allele Losses in the Region
q12-q21 in Familial Breast and Ovarian Cancer non-Randomly Involve the Wild Type
Chromosome. Nat Genet ; 2:128-131.
Shao N, YI Chai, F Shyam, P Reddy, and VN Rao. 1996 Induction of Apoptosis by
the Tumor Suppressor Protein BRCA1. Oncogene ; 13(1):1-7.
LC, ZW Wang, JT Tsan, MA Spillman, A Phung, Xu XL, MC Yang, LY Hwang, and AM
Bowcock, Baer R. 1996 Identification of a RING Protein that Can Interact in Vivo with
BRCA1 Gene Product. Nat Genet ; 14(4):430-40.
Saurin AJ, KL Borden, MN Boddy, and PS Freemont. 1996 Does This Have a
Familial Ring?. Trends Biochem Sci ; 21:208-14.
Alberts B, D Bray, J Lewis, M Raff, K Roberts and JD Watson.1994 Control of Gene
Expression in: Molecular Biology of the Cell. Garland, New York. ; 3rd Ed. 401-474.
Jensen DE , M Proctor, ST Marquis, HP Gardner, Ha SI, LA Chodosh, AM Ishov, N
Tommerup, H Vissing, Y Sekido, J Minna, A Borodovsky, DC Schultz, KD Wilkinson, GG
Maul, N Barlev, SL Berger, GC Prendergast, and FJ Rauscher 3rd. BAP1: 1998 A Novel
Ubiquitin Hydrolase Which Binds to the BRCA1 RING Finger and Enhances BRCA1-
Mediated Cell Growth Suppression. Oncogene Mar 5; 16(9):1097-112.
Koonin EV, SF Altschul, and P Bork. 1996 BRCA1 Protein Products: Functional
Motifs. Nat Genet ; 13:266-267.
Thakur S, HB Zhang, Y Peng, H Le, B Carroll, T Ward, J Yao, LM Farid, FJ Couch,
RB Wilson, and BL Weber.1997 Localization of BRCA1 and a Splice Variant Identifies
the uclear Localization Signal. Mol Cell Biol Jan; 17(1):444-52
Scully R, J Chen, A Plug, Y Xiao, D Weaver, J Feunteun, T Ashley, and DM
Livingston. 1997 Association of BRCA1 with Rad51 in Mitotic and Meiotic Cells. Cell Jan
; 88(2):265-75
Wooster R, S Neuhausen, J Mangion, Y Quirk, D Ford, N Collins, K Nguyen, S Seal,
T Tran, and D Averill. 1994 Localization of a Breast Cancer Susceptibility Gene BRCA2
to Chromosome 13q 12-13. Science ; 265(5181):2088-90.
Couch FJ, LM Farid, ML Deshano, SV Tavtigian, KA Calzone, L Campeau, Y Peng, B
Bogden, Q Chen, S Neuhausen, D Shattuck-Eidens, AK Godwin, M Daly, DM Radford, S
Sedlacek, J Rommens, J Simard, J Garber, S Merajver, and BL Weber. 1996 BRCA2
Germline Mutations in Male Breast Cancer Cases and Breast Cancer Families. Nat
Genet ; 13(1):123-25.
Neuhausen SL, AK Godwin, R Gershoni-Baruch, E Schubert, J Garber, D Stoppa-
Lyonnet, E Olah, B Csokay, O Serova, F Lalloo, A Osorio, M Stratton, K Offit, J Boyd,
MA Caligo, RJ Scott, A Schofield, E Teugels, M Schwab, L Cannon-Albright, T Bishop, D
Easton, J Benitez, MC King, and D Goldgar.1998 Haplotype and Phenotype Analysis of
Nine Recurrent BRCA2 Mutations in 111 Families: Results of an International
Study. Am J Hum Genet ; 62(6):1381-88.
Gayther SA, J Mangion, P Russell, S Seal, R Barfoot, BA Ponder, MR Straton, and D
Easton. 1997 Variation of Risk of Breast and Ovarian Cancer Associated with Different
Germline Mutations of the BRCA2 Gene. Nat Genet ; 15(1):103-05.
Tavtigian SV, et al, op cit.
Vaughn JP, FD Cirisano, G Huper, A Berchuck, PA Futreal, JR Marks, and JD
Iglehart.1998 Cell Cycle Control of BRCA2. Cancer Res ; 56(20):4590-94.
Bertwistle D, S Swift, NJ Marston, LE Jackson, S Crossland, MR Crompton, CJ
Marshall, and A Ashworth. 1997 Nuclear Location and Cell Cycle Regulation of the
BRCA2 Protein.Cancer Res ; 57(24):5485-88.
Wong AK, R Pero, PA Ormonde, SV Tavtigian, and PA Bartel. 1997 RAD51 Interacts
with the Evolutionary Conserved BRC Motifs in the Human Breast Cancer Susceptibility
Gene BRCA2. J Biol Chem ; 272:31941-44.
Patel KJ, VP Yu, H Lee, A Corcoran, FC Thistlethwaite, MJ Evans, WH Colledge, LS
Friedman, BA Ponder, and AR Venkitaraman. 1998 Involvement of BRCA2 in DNA
Repair.Molecular Cell ; 1(3):347-57.
Zhang H, G Tombline, and BL Weber.1998 BRCA1/ BRCA2, and DNA Damage
Response: Collision or Collusion?. Cell ; 92:433-436.
Szabo CI, and MC King. Invited Editorial. 1997 Population Genetics of BRCA1 and
BRCA2.Am J Hum Genet ; 60:1013-20.
Arena JF, S Smith, M Plewinska, and L Gayol.1996 BRCA1 Mutations in African-
American Women. Am J Hum Genet Suppl ; 59:A34.
Serova-Sinilnikova OM, L Boutrand, D Stoppa-Lyonnet, B Bressac-de-Paillerets, V
Dubois, C Lasset, N Janin, YJ Bignon, M Longy, C Maugard, R Lidereau, D Leroux, T
Frebourg, S Mazoyer, and GM Lenoir. 1997 BRCA2 Mutations in Hereditary Breast and
Ovarian Cáncer in France. Am J Hum Genet ; 60(5):1236-39.
Corvello CM, APM Duarte, M Mourao-Neto, and AJG Simpson 1998 BRCA1, BRCA2
and Tp53 Germline Mutations in Brazilian Breast Cancer Families: In the 21th San
Antonio Breast Cancer Symposium. Breast Cancer Res Treat : 50(3)297. BRCA1
Mutations in African-American Women
Calderón-Garcidueñas A, U Parás-Barrientos, L Cárdenas-Ibarra, J González
Guerrero, T Staines, y HA Barrera-Saldaña 1998 Risk Factors Analysis in Breast
Carcinoma and Search of Mutations in BRCA1 Gene, in Mexican Patients: In the 21th
San Antonio Breast Cancer Symposium. Breast Cancer Res Treat : 50(3)298.
Trincado P, C Fardella, D Mayerson, L Montero, y A O’Brien.1999 Prevalencia de la
Deleción 185AG del Gen BRCA1 en Mujeres Chilenas con Cáncer de Mama. Rev Med
Chile ; 127:19-22.
Warmuth MA, LM Sutton, and EP Winer. 1997 A Review of Hereditary Breast
Cancer: from Screening to Risk Factor Modification. Am J Med Apr; 102:407-15.
Hoskins KF, JE Stopfer, KA Calzone, SD Merajver, TR Rebbeck, JE Garber, and BL
Weber. 1995 Assessment and Counseling for Women with a Family History of Breast
Cancer. A Guide for Clinicians. JAMA, ; 273(7):577-85.
Burke W, M Daly, J Garber, J Botkin, MJ Kahn, P Lynch, Mc Tiernan A, K Offit, J
Perlman, G Petersen, E Thomson, and C Varriccio. Consensus Statment.1997
Recommendations for Follow-up Care of Individuals with an Inherited Predisposition to
Cancer. BRCA1 and BRCA2. JAMA. ; 277(12):997-1003.
Patel KJ, et al, op cit.
Hartmann LC, DJ Schaid, JE Wodds, TP Crotty, JL Myers, PG Arnold, PM Petty, TA
Sellers, JL Johnson, SK McDonnell, MH Frost, and RB Jenkins.1999 Efficacy of Bilateral
Prophylactic Mastectomy in Women with a Family History of Breast Cancer. N Eng J
Med ; 340(2):77-84.
Fisher B, JP Constantino, DL Wickerham, CK Redmond, M Kavanah, WM Cronin, V
Vogel, A Robidoux, N Dimitrov, J Atkins, M Daly, S Wieand, E Tan-Chiu, L Ford, and N
Wolmark. 1998 Tamoxifen for Prevention of Breast Cancer: Report of the National
Surgical Adjuvant Breast and Bowel Project P-1 Study. J Natl Cancer Inst ;
(18):1371-88.
Cummings SR, S Eckert, KA Krueger, D Grady, TJ Powles, JA Cauley, L Norton, T
Nickelsen, NH Bjarnason, M Morrow, ME Lippman, D Black, JE Glusman, A Costa, and
BC Jordan. 1999 The Effect of Raloxifene on Risk of Breast Cancer in Postmenopausal
Women: Results from the MORE Randomized Trial. Multiple Outcomes of Raloxifene
Evaluation. JAMA; 281(23):2189-97.
Patel KJ, et al, op cit.
Serova-Sinilnikova OM, et al, op cit.
Biesecker BB, M Boehnke, K Calzone, DS Markel, JE Garber, FS Collins, and BL
Weber. 1993 Genetic Counseling for Families with Inherited Susceptibility to Breast
and Ovarian Cancer. JAMA, 269(15):1970-74.
Hoskins KF, JE Stopfer, KA Calzone, SD Merajver, TR Rebbeck, JE Garber, and BL
Weber. 1995 Assessment and Counseling for Women with a Family History of Breast
Cancer. A Guide for Clinicians. JAMA ; 273(7):577-85.
Zhang H, et al, op cit.
Corvello CM, et al, op cit.
Cockburn J, S Redman, and A Kricker.1998 Should Women Take Part in Clinical
Trials in Breast Cancer? Issues and Some Solutions. J Clin Oncol ; 16(1):354-362.
Eeles RA, and BA Murday. 1996 The Cancer Family Clinic: In Genetic Predisposition
to Cancer. Chapman & Hall, London ; 357-371.
Burke W, Nn Press, and L Pinsky Workshop on Heritable Cancer Syndromes and
Genetic Testing.
Downloads
Published
How to Cite
Issue
Section
License
The rights of the work belong to the author or authors, however, by sending it for publication in the Public Health and Nutrition Magazine of the Faculty of Public Health and Nutrition of the Autonomous University of Nuevo León, they grant the right for its first publication in between electronic, and possibly, in print to the Public Health and Nutrition Magazine. The license used is the Creative Commons attribution, which allows third parties to use what is published whenever the authorship of the work is mentioned and the first publication that is in the Public Health and Nutrition Magazine. Likewise, the author or authors will take into account that it will not be allowed to send the publication to any other journal, regardless of the format. The authors will be able to make other independent and additional contractual agreements for the non-exclusive distribution of the version of the article published in the Public Health and Nutrition Magazine (e.g., institutional repository or publication in a book) provided they clearly state that The work was published for the first time in the Public Health Magazine, Magazine of the Faculty of Public Health and Nutrition of the Autonomous University of Nuevo León.
