Founder BRCA1/2 Mutations in the Europe: Implications for Hereditary Breast-ovarian Cancer Prevention and Control

Overview

Journal EPMA J

Date 2012 Dec 4

PMID 23199084

Citations 113

Authors

Ramunas Janavicius

Affiliations

Soon will be listed here.

Abstract

Detection of mutations in hereditary breast and ovarian cancer-related BRCA1 and BRCA2 genes is an effective method of cancer prevention and early detection. Different ethnic and geographical regions have different BRCA1 and BRCA2 mutation spectrum and prevalence. Along with the emerging targeted therapy, demand and uptake for rapid BRCA1/2 mutations testing will increase in a near future. However, current patients selection and genetic testing strategies in most countries impose significant lag in this practice. The knowledge of the genetic structure of particular populations is important for the developing of effective screening protocol and may provide more efficient approach for the individualization of genetic testing. Elucidating of founder effect in BRCA1/2 genes can have an impact on the management of hereditary cancer families on a national and international healthcare system level, making genetic testing more affordable and cost-effective. The purpose of this review is to summarize current evidence about the BRCA1/2 founder mutations diversity in European populations.

Citing Articles

The cardio-oncologic burden of breast cancer: molecular mechanisms and importance of preclinical models.

Brauer J, Tumani M, Frey N, Lehmann L Basic Res Cardiol. 2024; 120(1):91-112.

PMID: 39621070 PMC: 11790711. DOI: 10.1007/s00395-024-01090-w.

Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing.

Rocca V, Lo Feudo E, Dinatolo F, Lavano S, Bilotta A, Amato R Curr Issues Mol Biol. 2024; 46(11):13003-13020.

PMID: 39590369 PMC: 11592649. DOI: 10.3390/cimb46110775.

The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.

Yanus G, Suspitsin E, Imyanitov E Int J Mol Sci. 2024; 25(17).

PMID: 39273284 PMC: 11394759. DOI: 10.3390/ijms25179335.

Long-Term Survival in BRCA1 Mutant Advanced Ovarian Cancer: Unveiling the Impact of Olaparib.

Afrasanie V, Rusu A, Gheorghe A, Froicu E, Dumitrescu E, Gafton B Diagnostics (Basel). 2024; 14(17).

PMID: 39272683 PMC: 11394373. DOI: 10.3390/diagnostics14171898.

Untapped Potential of Poly(ADP-Ribose) Polymerase Inhibitors: Lessons Learned From the Real-World Clinical Homologous Recombination Repair Mutation Testing.

Lebedeva A, Veselovsky E, Kavun A, Belova E, Grigoreva T, Orlov P World J Oncol. 2024; 15(4):562-578.

PMID: 38993246 PMC: 11236374. DOI: 10.14740/wjon1820.

References

Rouleau M, Patel A, Hendzel M, Kaufmann S, Poirier G . PARP inhibition: PARP1 and beyond. Nat Rev Cancer. 2010; 10(4):293-301. PMC: 2910902. DOI: 10.1038/nrc2812. View

Byrski T, Gronwald J, Huzarski T, Grzybowska E, Budryk M, Stawicka M . Pathologic complete response rates in young women with BRCA1-positive breast cancers after neoadjuvant chemotherapy. J Clin Oncol. 2009; 28(3):375-9. DOI: 10.1200/JCO.2008.20.7019. View

Couch F, Weber B . Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core. Hum Mutat. 1996; 8(1):8-18. DOI: 10.1002/humu.1380080102. View

Fasching P, Bani M, Nestle-Kramling C, Goecke T, Niederacher D, Beckmann M . Evaluation of mathematical models for breast cancer risk assessment in routine clinical use. Eur J Cancer Prev. 2007; 16(3):216-24. DOI: 10.1097/CEJ.0b013e32801023b3. View

Rudkin T, Hamel N, Galvez M, Hogervorst F, Gille J, Moller P . The frequent BRCA1 mutation 1135insA has multiple origins: a haplotype study in different populations. BMC Med Genet. 2006; 7:15. PMC: 1403746. DOI: 10.1186/1471-2350-7-15. View

Csokay B, Tihomirova L, Stengrevics A, Sinicka O, Olah E . Strong founder effects in BRCA1 mutation carrier breast cancer patients from Latvia. Mutation in brief no. 258. Online. Hum Mutat. 1999; 14(1):92. DOI: 10.1002/(sici)1098-1004(1999)14:1<92::aid-humu23>3.0.co;2-2. View

Fackenthal J, Olopade O . Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations. Nat Rev Cancer. 2007; 7(12):937-48. DOI: 10.1038/nrc2054. View

Papi L, Putignano A, Congregati C, Zanna I, Sera F, Morrone D . Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy. Breast Cancer Res Treat. 2008; 117(3):497-504. DOI: 10.1007/s10549-008-0190-3. View

Hansen T, Ejlertsen B, Albrechtsen A, Bergsten E, Bjerregaard P, Hansen T . A common Greenlandic Inuit BRCA1 RING domain founder mutation. Breast Cancer Res Treat. 2008; 115(1):69-76. DOI: 10.1007/s10549-008-0060-z. View

10.

Zeegers M, van Poppel F, Vlietinck R, Spruijt L, Ostrer H . Founder mutations among the Dutch. Eur J Hum Genet. 2004; 12(7):591-600. DOI: 10.1038/sj.ejhg.5201151. View

11.

Menkiszak J, Gronwald J, Gorski B, Jakubowska A, Huzarski T, Byrski T . Hereditary ovarian cancer in Poland. Int J Cancer. 2003; 106(6):942-5. DOI: 10.1002/ijc.11338. View

12.

Einbeigi Z, Enerback C, Wallgren A, Nordling M, Karlsson P . BRCA1 gene mutations may explain more than 80% of excess number of ovarian cancer cases after breast cancer - a population based study from the Western Sweden Health Care region. Acta Oncol. 2010; 49(3):361-7. DOI: 10.3109/02841860903521095. View

13.

Marroni F, Cipollini G, Peissel B, DAndrea E, Pensabene M, Radice P . Reconstructing the genealogy of a BRCA1 founder mutation by phylogenetic analysis. Ann Hum Genet. 2008; 72(Pt 3):310-8. DOI: 10.1111/j.1469-1809.2007.00420.x. View

14.

. The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. The BRCA1 Exon 13 Duplication Screening Group. Am J Hum Genet. 2000; 67(1):207-12. PMC: 1287079. View

15.

Johannesdottir G, Gudmundsson J, Bergthorsson J, Arason A, Agnarsson B, Eiriksdottir G . High prevalence of the 999del5 mutation in icelandic breast and ovarian cancer patients. Cancer Res. 1996; 56(16):3663-5. View

16.

Bergman A, Flodin A, Engwall Y, Arkblad E, Berg K, Einbeigi Z . A high frequency of germline BRCA1/2 mutations in western Sweden detected with complementary screening techniques. Fam Cancer. 2005; 4(2):89-96. DOI: 10.1007/s10689-004-5812-2. View

17.

Loginova A, Pospekhova N, Lyubchenko L, Budilov A, Zakharev V, Garkavtseva R . Spectrum of mutations in BRCA1 gene in hereditary forms of breast and ovarian cancer in Russian families. Bull Exp Biol Med. 2003; 136(3):276-8. DOI: 10.1023/b:bebm.0000008982.21806.9b. View

18.

Liede A, Cohen B, Black D, DAVIDSON R, Renwick A, Hoodfar E . Evidence of a founder BRCA1 mutation in Scotland. Br J Cancer. 2000; 82(3):705-11. PMC: 2363321. DOI: 10.1054/bjoc.1999.0984. View

19.

Neuhausen S . Founder populations and their uses for breast cancer genetics. Breast Cancer Res. 2001; 2(2):77-81. PMC: 139426. DOI: 10.1186/bcr36. View

20.

Sokolenko A, Rozanov M, Mitiushkina N, Sherina N, Iyevleva A, Chekmariova E . Founder mutations in early-onset, familial and bilateral breast cancer patients from Russia. Fam Cancer. 2007; 6(3):281-6. DOI: 10.1007/s10689-007-9120-5. View