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Consejo genético en cáncer de ovario

Santiago González Santiago, Rocío Pérez Velasco

Prepublicado: 2024-12-02

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Un porcentaje significativo de los casos de cáncer de ovario (estimado entre el 10 % y el 25 %) tiene un componente hereditario. Los principales genes responsables de la existencia de esta predisposición hereditaria son BRCA1 y BRCA2, por frecuencia y penetrancia. Mutaciones en otros genes, como BRIP1, RAD51C, RAD51D, PALB2, o los genes MMR del síndrome de Lynch, también son una posible causa. Los estudios de paneles de genes por secuenciación masiva en línea germinal o somática están aumentando el número de familias en las que se identifica la causa genética de predisposición al cáncer de ovario. La identificación de una mutación permite el estudio en cascada de familiares sanas que pueden conocer su estado de portadoras y tomar medidas de prevención tras un adecuado proceso de consejo genético. La salpingooforectomía bilateral profiláctica ha demostrado su eficacia para reducir el riesgo de desarrollar cáncer de ovario y reducir la mortalidad general.

Palabras Clave: Cáncer de ovario. BRCA1. BRCA2. Consejo genético. Salpingooforectomía.

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Ferlay J, Colombet M, Soerjomataram I, et al. Estimating the global cancer incidence and mortality in 2018: GLOBOCAN sources and methods. Int J Cancer 2019;144:1941-53.
DOI: 10.1002/ijc.31937

Reid BM, Permuth JB, Sellers TA. Epidemiology of ovarian cancer: a review. Cancer Biol Med 2017;14:9-32.
DOI: 10.20892/j.issn.2095-3941.2016.0084

Rebbeck TR, Kauff ND, Domchek SM. Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. J Natl Cancer Inst 2009;101(2):80-7.
DOI: 10.1093/jnci/djn442

Ladd MK, Peshkin BN, Senter L, et al. Predictors of risk-reducing surgery intentions following genetic counseling for hereditary breast and ovarian cancer. Transl Behav Med 2020;10(2):337-46.
DOI: 10.1093/tbm/iby101

Walsh T, Casadei S, Lee MK, et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A 2011;108:18032-7.
DOI: 10.1073/pnas.1115052108

Nielsen FC, Van Overeem Hansen T, Sørensen CS. Hereditary breast and ovarian cancer: new genes in confined pathways. Nat Rev Cancer 2016;16(9):599-612.
DOI: 10.1038/nrc.2016.72

Miki Y, Swensen J, Shattuck-Eidens D, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994;266:66-71.
DOI: 10.1126/science.7545954

Wooster R, Bignell G, Lancaster J, et al. Identification of the breast and ovarian cancer susceptibility gene BRCA2. Nature 1995;378:789-92.
DOI: 10.1038/378789a0

Cancer Genome Atlas Research Network. Integrated genomic analyses of ovarian carcinoma. Nature 2011;474(7353):609-15.
DOI: 10.1038/nature10166

Shao C, Wan J, Lam FC, et al. A comprehensive literature review and meta-analysis of the prevalence of pan-cancer BRCA mutations, homologous recombination repair gene mutations, and homologous recombination deficiencies. Environ Mol Mutagen. 2022;63(6):308-16.
DOI: 10.1002/em.22505

Kar SP, Berchuck A, Gayther SA, et al. Common Genetic Variation and Susceptibility to Ovarian Cancer: Current Insights and Future Directions. Cancer Epidemiol Biomarkers Prev 2018;27(4):395-404.
DOI: 10.1158/1055-9965.EPI-17-0315

Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA 2017;317:2402-16.
DOI: 10.1001/jama.2017.7112

Zhang S, Royer R, Li S, et al. Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. Gynecol Oncol 2011;121:353-7.
DOI: 10.1016/j.ygyno.2011.01.020

Song H, Cicek MS, Dicks E, et al. The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. Hum Mol Genet 2014;23:4703-9.
DOI: 10.1093/hmg/ddu172

Kotsopoulos J, Gronwald J, Karlan B, et al. Age-specific ovarian cancer risks among women with a BRCA1 or BRCA2 mutation Gynecol Oncol 2018;150:85-91.
DOI: 10.1016/j.ygyno.2018.05.011

Lilyquist J, La Duca H, Polley E, et al. Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls. Gynecol Oncol 2017;147:375-80.
DOI: 10.1016/j.ygyno.2017.08.030

Loveday C, Turnbull C, Ramsay E, et al. Germline mutations in RAD51D confer susceptibility to ovarian cancer. Nat Genet 2011;43:879-82.
DOI: 10.1038/ng.893

Weber-Lassalle N, Hauke J, Ramser J, et al. BRIP1 loss- of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer. Breast Cancer Res 2018;20:7.
DOI: 10.1186/s13058-018-0935-9

Yang X, Leslie G, Doroszuk A, et al. Cancer risks associated with germline PALB2 pathogenic variants: an international study of 524 families. J Clin Oncol 2020;38:674-85.
DOI: 10.1200/JCO.19.01907

Mills AM, Longacre TA. Lynch syndrome screening in the gynecologic tract: current state of the art. Am J Surg Pathol 2016;40:e35‐44.
DOI: 10.1097/PAS.0000000000000608

Møller P, Seppala T, Bernstein I, et al. Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. Gut 2017;66:464-72.
DOI: 10.1136/gutjnl-2015-309675

Ryan NAJ, Evans DG, Green K, et al. Pathological features and clinical behavior of Lynch syndrome-associated ovarian cancer. Gynecol Oncol 2017;144:491-5.
DOI: 10.1016/j.ygyno.2017.01.005

Ramus SJ, Song H, Dicks E, et al. Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women with Ovarian Cancer. J Natl Cancer Inst 2015;107.

Daly MB, Pal T, Berry MP, et al. (NCCN Guidelines®). Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. Version 1.2025. NCCN Clinical Practice Guidelines in Oncology [Acceso: 11 de septiembre de 2024]. J Natl Compr Canc Netw 2021;19(1):77-102.
DOI: 10.6004/jnccn.2021.0001

Kauff ND, Satagopan JM, Robson ME, et al. Risk- reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 2002;346:1609-15.
DOI: 10.1056/NEJMoa020119

Finch AP, Lubinski J, Moller P, et al. Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation J Clin Oncol 2014;32:1547-53.
DOI: 10.1200/JCO.2013.53.2820

Wang Y, Song Z, Zhang S, et al. Risk-reducing salpingo-oophorectomy and breast cancer risk in BRCA1 or BRCA2 mutation carriers: A systematic review and meta-analysis. Eur J Surg Oncol 2022;48(6):1209-16.
DOI: 10.1016/j.ejso.2022.02.019

Gordhandas S, Norquist BM, Pennington KP, et al. Hormone replacement therapy after risk reducing salpingo-oophorectomy in patients with BRCA1 or BRCA2 mutations; a systematic review of risks and benefits. Gynecol Oncol 2019;153(1):192-200.
DOI: 10.1016/j.ygyno.2018.12.014

Kotsopoulos J, Gronwald J, By K, et al. Hormone replacement therapy after oopho rectomy and breast cancer risk among brca1 mutation carriers, JAMA Oncol. (2018).
DOI: 10.1001/jamaoncol.2018.0211

Rebbeck TR, et al. PROSE study group, effect of short-term hormone replacement therapy on breast cancer risk re duction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers: the PROSE study group. J Clin Oncol 2005;23:7804-10.
DOI: 10.1200/JCO.2004.00.8151

Marchetti C, De Felice F, Boccia S, et al. Hormone replacement therapy after prophylactic risk-reducing salpingo-oophorectomy and breast cancer risk in BRCA1 and BRCA2 mutation carriers: A meta-analysis. Crit Rev Oncol Hematol 2018;132:111-5.
DOI: 10.1016/j.critrevonc.2018.09.018

González-Santiago S, Ramón y Cajal T, Aguirre E, et al; SEOM Hereditary Cancer Working Group. SEOM clinical guidelines in hereditary breast and ovarian cancer (2019). Clin Transl Oncol 2020;22(2):193-200.
DOI: 10.1007/s12094-019-02262-0

Narod SA, Risch H, Moslehi R, et al. Oral contraceptives and the risk of hereditary ovarian cancer. Hereditary Ovarian Cancer Clinical Study Group. N Engl J Med 1998;339(7):424-8.
DOI: 10.1056/NEJM199808133390702

Schrijver LH, Olsson H, Phillips KA, et al. Oral contraceptive use and breast cancer risk: Retrospective and prospective analyses from a BRCA1 and BRCA2 mutation carrier cohort study. JNCI Cancer Spectr 2018;2(2).
DOI: 10.1093/jncics/pky041

Friebel TM, Domchek SM, Rebbeck TR. Modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: systematic review and meta-analysis. J Natl Cancer Inst 2014;106(6).
DOI: 10.1093/jnci/dju091

Xia YY, Gronwald J, Karlan B, et al. Hereditary Ovarian Cancer Clinical Study Group. Contraceptive use and the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation. Gynecol Oncol 2022;164(3):514-21.
DOI: 10.1016/j.ygyno.2022.01.014

Cibula D, Gompel A, Mueck AO, et al. Hormonal contraception and risk of cancer. Hum Reprod Update 2010;16(6):631-50.
DOI: 10.1093/humupd/dmq022

Kotsopoulos J, Lubinski J, Moller P, et al. Hereditary Breast Cancer Clinical Study Group. Timing of oral contraceptive use and the risk of breast cancer in BRCA1 mutation carriers. Breast Cancer Res Treat 2014;143(3):579-86.
DOI: 10.1007/s10549-013-2823-4

Iodice S, Barile M, Rotmensz N, et al. Oral contraceptive use and breast or ovarian cancer risk in BRCA1/2 carriers: a meta-analysis. Eur J Cancer 2010;46(12):2275-84.
DOI: 10.1016/j.ejca.2010.04.018

Park J, Huang D, Chang YJ, et al. Oral contraceptives and risk of breast cancer and ovarian cancer in women with a BRCA1 or BRCA2 mutation: a meta-analysis of observational studies. Carcinogenesis 2022;43(3):231-42.
DOI: 10.1093/carcin/bgab107