Mexican BRCA1 founder mutation: Shortening the gap in genetic assessment for hereditary breast and ovarian cancer patients
Autoři:
Veronica Fragoso-Ontiveros aff001; Jose Antonio Velázquez-Aragón aff002; Paulina Maria Nuñez-Martínez aff001; Maria de la Luz Mejía-Aguayo aff001; Silvia Vidal-Millán aff001; Abraham Pedroza-Torres aff003; Yuliana Sánchez-Contreras aff001; Miguel Angel Ramírez-Otero aff001; Rodolfo Muñiz-Mendoza aff003; Julieta Domínguez-Ortíz aff001; Talia Wegman-Ostrosky aff001; Juan Enrique Bargalló-Rocha aff004; Dolores Gallardo-Rincón aff005; Nancy Reynoso-Noveron aff006; Cristian Arriaga-Canon aff003; Abelardo Meneses-García aff007; Luis Alonso Herrera-Montalvo aff003; Rosa Maria Alvarez-Gomez aff001
Působiště autorů:
Hereditary Cancer Clinic, National Cancer Institute, Mexico city, Mexico
aff001; Molecular Biology Laboratory, National Paediatrics Institute, Mexico city, Mexico
aff002; Research Direction, National Cancer Institute, Mexico city, Mexico
aff003; Breast Cancer Department, National Cancer Institute, Mexico city, Mexico
aff004; Medical Oncology Department, National Cancer Institute, Mexico city, Mexico
aff005; Epidemiology Department, National Cancer Institute, Mexico city, Mexico
aff006; General Direction, National Cancer Institute, Mexico city, Mexico
aff007
Vyšlo v časopise:
PLoS ONE 14(9)
Kategorie:
Research Article
doi:
https://doi.org/10.1371/journal.pone.0222709
Souhrn
The deletion of exons 9 to 12 of BRCA1 (9–12 del BRCA1) is considered a founder mutation in the Mexican population. We evaluate the usefulness of the target detection of 9–12 del BRCA1 as the first molecular diagnostic strategy in patients with Hereditary Breast and Ovarian Cancer (HBOC). We performed the genetic assessment of 637 patients with suspected HBOC. The region corresponding to the breakpoints for the 9–12 del BRCA1 was amplified by polymerase chain reaction (PCR). An analysis of the clinical data of the carriers and non-carriers was done, searching for characteristics that correlated with the deletion. The 9–12 del BRCA1 was detected in 5% of patients with suspected HBOC (30/637). In patients diagnosed with ovarian cancer, 13 of 30 were 9–12 del BRCA1 carriers, which represents 43%. We found a significant association between the 9–12 del BRCA1 carriers with triple negative breast cancer and high-grade papillary serous ovarian cancer. We concluded that the detection of the 9–12 del BRCA1 is useful as a first molecular diagnostic strategy in the Mexican population. In particular, it shortens the gap in genetic assessment in patients with triple negative breast cancer and ovarian cancer.
Klíčová slova:
Breast cancer – Cancer detection and diagnosis – Carcinomas – Mexican people – Ovarian cancer – Point mutation – Genetic causes of cancer – Invasive ductal carcinoma
Zdroje
1. Brody LC, Biesecker BB. Breast cancer susceptibility genes BRCA1 and BRCA2. Medicine. 1998; 77: 208–26. doi: 10.1097/00005792-199805000-00006 9653432
2. King MC, Marks JH, Mandell JB; New York Breast Cancer Study Group. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003; 302: 643–6. doi: 10.1126/science.1088759 14576434
3. Narod SA, Foulkes WD. BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer. 2004; 4: 665–76. doi: 10.1038/nrc1431 15343273
4. Mavaddat N, Peock S, Frost D, Ellis S, Platte R, Fineberg E, et al. Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst. 2013; 105: 812–22. doi: 10.1093/jnci/djt095 23628597
5. Palma MD, Domchek SM, Stopfer J, Erlichman J, Siegfried JD, Tigges-Cardwell J, et al. The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families. Cancer Res. 2008; 68: 7006–14. doi: 10.1158/0008-5472.CAN-08-0599 18703817
6. Rebbeck TR, Mitra N, Wan F, Sinilnikova OM, Healey S, McGuffog L, et al. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. JAMA. 2015; 313: 1347–61. doi: 10.1001/jama.2014.5985 25849179
7. Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, et. al. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Hum Mutat. 2018; 39: 593–620. doi: 10.1002/humu.23406 29446198
8. Landrum MJ, Lee JM, Benson M, Brown GR, Chao C, Chitipiralla S, et al. ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res. 2018; 46: D1062–D1067. doi: 10.1093/nar/gkx1153 29165669
9. Szabo C, Masiello A, Ryan JF, Brody LC. The breast cancer information core: database design, structure, and scope. Hum Mutat. 2000; 16: 123–31. doi: 10.1002/1098-1004(200008)16:2<123::AID-HUMU4>3.0.CO;2-Y 10923033
10. Roa BB, Boyd AA, Volcik K, Richards CS. Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet. 1996; 14: 185–7. doi: 10.1038/ng1096-185 8841191
11. Gabai-Kapara E, Lahad A, Kaufman B, Friedman E, Segev S, Renbaum P, et al. Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2. Proc Natl Acad Sci U S A. 2014; 111: 14205–10. doi: 10.1073/pnas.1415979111 25192939
12. Gomes MC, Costa MM, Borojevic R, Monteiro AN, Vieira R, Koifman S, et al. Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil. Breast Cancer Res Treat. 2007; 103: 349–53. doi: 10.1007/s10549-006-9378-6 17063270
13. Torres D, Rashid MU, Gil F, Umana A, Ramelli G, Robledo JF, et al. High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia. Breast Cancer Res Treat. 2007; 103: 225–32. doi: 10.1007/s10549-006-9370-1 17080309
14. Weitzel JN, Lagos V, Blazer KR, Nelson R, Ricker C, Herzog J, et al. Prevalence of BRCA mutations and founder effect in high-risk Hispanic families. Cancer Epidemiol Biomarkers Prev. 2005; 14: 1666–1671. doi: 10.1158/1055-9965.EPI-05-0072 16030099
15. Villarreal-Garza C, Alvarez-Gómez RM, Pérez-Plasencia C, Herrera LA, Herzog J, Castillo D, et al. Significant clinical impact of recurrent BRCA1 and BRCA2 mutations in Mexico. Cancer. 2015; 121: 372–8. doi: 10.1002/cncr.29058 25236687
16. Villarreal-Garza C, Weitzel JN, Llacuachaqui M, Sifuentes E, Magallanes-Hoyos MC, Gallardo L, et al. The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer. Breast Cancer Res Treat. 2015; 150: 389–94. doi: 10.1007/s10549-015-3312-8 25716084
17. Ossa CA, Torres D. Founder and Recurrent Mutations in BRCA1 and BRCA2 Genes in Latin American Countries: State of the Art and Literature Review. Oncologist. 2016; 21: 832–9. doi: 10.1634/theoncologist.2015-0416 27286788
18. Lancaster JM, Powell CB, Chen LM, Richardson DL. SGO Clinical Practice Committee. Society of Gynecologic Oncology statement on risk assessment for inherited gynecologic cancer predispositions. Gynecol Oncol. 2015; 136: 3–7. doi: 10.1016/j.ygyno.2014.09.009 25238946
19. Daly MB, Pilarski R, Berry M, Buys SS, Farmer M, Friedman S, et al. NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017. J Natl Compr Canc Netw. 2017; 15: 9–20. 28040716
20. Paluch-Shimon S, Cardoso F, Sessa C, Balmana J, Cardoso MJ, Gilbert F, et al. Prevention and screening in BRCA mutation carriers and other breast/ovarian hereditary cancer syndromes: ESMO Clinical Practice Guidelines for cancer prevention and screening. Ann Oncol. 2016; 27: v103–v110. doi: 10.1093/annonc/mdw327 27664246
21. Chavarri-Guerra Y, Blazer KR, Weitzel JN. Genetic Cancer Risk Assessment for Breast Cancer in Latin America. Rev Invest Clin. 2017; 69: 94–102. 28453507
22. Weitzel JN, Lagos VI, Herzog JS, Judkins T, Hendrickson B, Ho JS, et al. Evidence for common ancestral origin of a recurring BRCA1 genomic rearrangement identified in high-risk Hispanic families. Cancer Epidemiol Biomarkers Prev. 2007; 16: 1615–20. doi: 10.1158/1055-9965.EPI-07-0198 17646271
23. Wunderle M, Olmes G, Nabieva N, Häberle L, Jud SM, Hein A, et al. Risk, Prediction and Prevention of Hereditary Breast Cancer—Large-Scale Genomic Studies in Times of Big and Smart Data. Geburtshilfe Frauenheilkd. 2018; 78: 481–492. doi: 10.1055/a-0603-4350 29880983
24. Moyer VA, U.S. Preventive Services Task Force. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. Ann Intern Med. 2014; 160: 271–81. doi: 10.7326/M13-2747 24366376
25. Gu W, Zhang F, Lupski JR. Mechanisms for human genomic rearrangements. Pathogenetics. 2008; 1: 4. doi: 10.1186/1755-8417-1-4 19014668
26. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 2002; 30: e57. doi: 10.1093/nar/gnf056 12060695
27. Palanca S, de Juan I, Perez-Simó G, Barragán E, Chirivella I, Martínez E, et al. The deletion of exons 3–5 of BRCA1 is the first founder rearrangement identified in breast and/or ovarian cancer Spanish families. Fam Cancer. 2013; 12: 119–23. doi: 10.1007/s10689-012-9579-6 23117300
28. Apostolou P, Pertesi M, Aleporou-Marinou V, Dimitrakakis C, Papadimitriou C, Razis E, et al. Haplotype analysis reveals that the recurrent BRCA1 deletion of exons 23 and 24 is a Greek founder mutation. Clin Genet. 2017; 91: 482–487. doi: 10.1111/cge.12824 27357818
29. Hartmann C, John AL, Klaes R, Hofmann W, Bielen R, Koehler R, et al. Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families. Hum Mutat. 2004; 24: 534.
30. Petrij-Bosch A, Peelen T, van Vliet M, van Eijk R, Olmer R, Drüsedau M, et al. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet. 1997; 17: 341–5. doi: 10.1038/ng1197-341 9354803
31. Torres D, Rashid MU, Colombian Breast Cancer Study Group (COLBCS), Seidel-Renkert A, Weitzel JN, Briceno I, et al. Absence of the BRCA1 del (exons 9–12) mutation in breast/ovarian cancer families outside of Mexican Hispanics. Breast Cancer Res Treat. 2009; 117: 679–81. doi: 10.1007/s10549-009-0383-4 19333752
32. Weitzel JN, Clague J, Martir-Negron A, Ogaz R, Herzog J, Ricker C, et al. Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network. J Clin Oncol. 2013; 31: 210–6. doi: 10.1200/JCO.2011.41.0027 23233716
33. Torres-Mejía G, Royer R, Llacuachaqui M, Akbari MR, Giuliano AR, Martínez-Matsushita L, et al. Recurrent BRCA1 and BRCA2 mutations in Mexican women with breast cancer. Cancer Epidemiol Biomarkers Prev. 2015; 24: 498–505. doi: 10.1158/1055-9965.EPI-13-0980 25371446
34. Quezada Urban R, Díaz Velásquez CE, Gitler R, Rojo Castillo MP, Sirota Toporek M, Figueroa Morales A, et al. Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility. Cancers (Basel). 2018 Sep 27;10(10). pii: E361.
35. Zayas-Villanueva OA, Campos-Acevedo LD, Lugo-Trampe JJ, Hernández-Barajas D, González-Guerrero JF, Noriega-Iriondo MF, et al. Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case-control study. BMC Cancer. 2019 Jul 22;19(1):722. doi: 10.1186/s12885-019-5950-4 31331294
36. Strasser-Weippl K, Chavarri-Guerra Y, Villarreal-Garza C, Bychkovsky BL, Debiasi M, Liedke PE, et al. Progress and remaining challenges for cancer control in Latin America and the Caribbean. Lancet Oncol. 2015; 16: 405–38.
37. Lazcano-Ponce E, Mohar-Betancourt A, Meneses-García A, Hernández-Ávila M. Cancer burden in Mexico: urgent challenges to be met. Salud Publica Mex. 2016; 58: 101–3. 27557368
38. Encuesta Nacional de Ocupación y Empleo, mayores de 15 años, en México 2018. Instituto Nacional de Estadística y Geografía (INEGI): www.inegi.org.mx/programas/enoe/15ymas/
39. James PA, Sawyer S, Boyle S, Young MA, Kovalenko S, Doherty R, et al. Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with an increased frequency of high risk features. Fam Cancer. 2015; 14: 287–95. doi: 10.1007/s10689-015-9785-0 25678442
Článek vyšel v časopise
PLOS One
2019 Číslo 9
- S diagnostikou Parkinsonovy nemoci může nově pomoci AI nástroj pro hodnocení mrkacího reflexu
- Je libo čepici místo mozkového implantátu?
- Pomůže v budoucnu s triáží na pohotovostech umělá inteligence?
- AI může chirurgům poskytnout cenná data i zpětnou vazbu v reálném čase
- Nová metoda odlišení nádorové tkáně může zpřesnit resekci glioblastomů
Nejčtenější v tomto čísle
- Graviola (Annona muricata) attenuates behavioural alterations and testicular oxidative stress induced by streptozotocin in diabetic rats
- CH(II), a cerebroprotein hydrolysate, exhibits potential neuro-protective effect on Alzheimer’s disease
- Comparison between Aptima Assays (Hologic) and the Allplex STI Essential Assay (Seegene) for the diagnosis of Sexually transmitted infections
- Assessment of glucose-6-phosphate dehydrogenase activity using CareStart G6PD rapid diagnostic test and associated genetic variants in Plasmodium vivax malaria endemic setting in Mauritania
Zvyšte si kvalifikaci online z pohodlí domova
Všechny kurzy