Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations

European Journal of Human Genetics

Volumn 21, Issue 2, 2013, Pages 212-216

  Laitman, Yael ^a   Feng, Bing Jian ^b   Zamir, Itay M ^a   Weitzel, Jeffrey N ^c   Duncan, Paul ^d   Port, Danielle ^c   Thirthagiri, Eswary ^e   Teo, Soo Hwang ^e,f   Evans, Gareth ^g   Latif, Ayse ^g   Newman, William G ^g   Gershoni Baruch, Ruth ^h   Zidan, Jamal ⁱ   Shimon Paluch, Shani ^j   Goldgar, David ^b   Friedman, Eitan ^a,k  

^a GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c Division of Clinical Cancer Genetics   (United States)

^d Hematology Oncology Associates   (United States)

^e CANCER RESEARCH INITIATIVES FOUNDATION   (Malaysia)

^f UNIVERSITY OF MALAYA   (Malaysia)

^g UNIVERSITY OF MANCHESTER   (United Kingdom)

^h RAMBAM MEDICAL CENTER   (Israel)

ⁱ Rebecca Sieff Government Hospital   (Israel)

^j SHEBA MEDICAL CENTER   (Israel)

^k TEL AVIV UNIVERSITY   (Israel)

more..

Author keywords

185delAG BRCA1 mutation; Conversos; founder mutation; haplotype

Indexed keywords

ARTICLE; ETHNIC DIFFERENCE; GENE MUTATION; GENETIC ALGORITHM; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR SUPPRESSOR GENE;

BRCA1 PROTEIN; ETHNIC GROUPS; FOUNDER EFFECT; GENETICS, POPULATION; HAPLOTYPES; HUMANS; JEWS; SEQUENCE DELETION;

EID: 84872501778     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.124     Document Type: Article

References (41)

1. Petrij-Bosch A, Peelen T, van Vliet M et al. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet 1997; 17: 341-345.
2. Thorlacius S, Struewing JP, Hartge P et al. Population-based study of risk of breast cancer in carriers of BRCA2 mutation. Lancet 1998; 352: 1337-1339.
3. Górski B, Cybulski C, Huzarski T et al. Breast cancer predisposing alleles in Poland. Breast Cancer Res Treat 2005; 92: 19-24.
4. Sokolenko AP, Mitiushkina NV, Buslov KG et al. High frequencyof BRCA1 5382insC mutation in Russian breast cancer patients. Eur J Cancer 2006; 42: 1380-1384.
5. Heimdal K, Maehle L, Apold J, Pedersen JC, Møller P: The Norwegian founder mutations in BRCA1: high penetrance confirmed in an incident cancer series and differences observed in the risk of ovarian cancer. Eur J Cancer 2003; 39: 2205-2213.
6. Abeliovich D, Kaduri L, Lerer I et al. The founder mutations 185delAG and 5382insC in BRCA1 and 6174delTin BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am J Hum Genet 1997; 60: 505-514.
7. Bar-Sade RB, Kruglikova A, Modan B et al. The 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim. Hum Mol Genet 1998; 7: 801-805.
8. Ah Mew N, Hamel N, Galvez M, Al-Saffar M, Foulkes WD: Haplotype analysis of a BRCA1: 185delAG mutation in a Chilean family supports its Ashkenazi origins. Clin Genet 2002; 62: 151-156.
9. Díez O, Osorio A, Robledo M et al. Prevalence of BRCA1 and BRCA2 Jewish mutations in Spanish breast cancer patients. Br J Cancer 1999; 79: 1302-1303.
10. Díez O, Doménech M, Alonso MC et al. Identification of the 185delAG BRCA1 mutation in a Spanish Gypsy population. Hum Genet 1998; 103: 707-708.
11. Kumar BV, Lakhotia S, Ankathil R, Madhavan J et al. Germline BRCA1 mutation analysis in Indian breast/ovarian cancer families. Cancer Biol Ther2002; 1: 18-21.
12. Kadalmani K, Deepa S, Bagavathi S, Anishetty S, Thangaraj K, Gajalakshmi P: Independent origin of 185delAG BRCA1 mutation in an Indian family. Neoplasma 2007; 54: 51-56.
13. Rashid MU, Zaidi A, Torres D et al. Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients. Int J Cancer 2006; 119: 2832-2839.
14. Ibrahim SS, Hafez EE, Hashishe MM: Presymptomatic breast cancer in Egypt: role of BRCA1 and BRCA2 tumor suppressor genes mutations detection. J Exp Clin Cancer Res 2010; 29: 82-91.
15. Cierniková S, Tomka M, Kovác M, Stevurková V, Zajac V: Ashkenazi founder BRCA1/ BRCA2 mutations in Slovak hereditary breast and/or ovarian cancer families. Neoplasma 2006; 53: 97-102.
16. Mullineaux LG, Castellano TM, Shaw J et al. Identification of germline 185delAG BRCA1 mutations in non-Jewish Americans of Spanish ancestry from the San Luis Valley, Colorado. Cancer 2003; 98: 597-602.
17. Berman DB, Wagner-Costalas J, Schultz DC, Lynch HT, Daly M, Godwin AK: Two distinct origins of a common BRCA1 mutation in breast-ovarian cancer families: a genetic study of 15 185delAG-mutation kindreds. Am J Hum Genet 1996; 58: 1166-1176.
18. Neuhausen SL, Mazoyer S, Friedman L et al. Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61families: results of an international study. Am J Hum Genet 1996; 58: 271-280.
19. Lynch HT, Watson P, Tinley S et al. An update on DNA-based BRCA1/BRCA2 genetic counseling in hereditary breast cancer. Cancer Genet Cytogenet 1999; 109: 91-98.
20. Hordes SM: To the End of The Earth: A History of the Crypto-Jews of New Mexico. Columbia University Press: New York, 2005.
21. Duncan PR, Lin JT: Ingredients for success: a familial cancer clinic in an oncology practice setting. J Oncol Practice 2011; 7: 39-42.
22. Makriyianni I, Hamel N, Ward S, Foulkes WD, Graw S: BRCA1:185delAG found in the San Luis Valley probably originated in a Jewish founder. J Med Genet 2005; 42: e27-e29.
23. Weitzel JN, Lagos V, Blazer KR et al. Prevalence of BRCA mutations and founder effect in high-risk Hispanic families. Cancer Epidemiol Biomarkers Prev 2005; 14: 1666-1671.
24. Thirthagiri E, Lee SY, Kang P et al. Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer. Breast Cancer Res 2008; 10: R59-R71.
25. Evans DG, Shenton A, Woodward E, Lalloo F, Howell A, Maher ER: Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting. BMC Cancer 2008; 8: 155-163.
26. Shiri-Sverdlov R, Oefner P, Green L et al. Mutational analyses of BRCA1 and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer. Hum Mutat 2000; 16: 491-501.
27. Evans DG, Lalloo F, Cramer A et al. Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing. J Med Genet 2009; 46: 811-817.
28. Neuhausen SL, Godwin AK, Gershoni-Baruch R et al. Haplotype and phenotype analysisof ninerecurrent BRCA2 mutations in 111 families: resultsof an international study. Am J Hum Genet 1998; 62: 1381-1388.
29. Hamel N, Feng BJ, Foretova L etal: On theorigin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations. Eur J Hum Genet 2011; 19: 300-306.
30. Kong A, Gudbjartsson DF, Sainz J et al. A high-resolution recombination map of the human genome. Nat Genet 2002; 31: 241-247.
31. Liu X, Barker DF: Evidence for effective suppression of recombination in the chromosome 17q21 segment spanning RNU2-BRCA1. Am J Hum Genet 1999; 64: 1427-1439.
32. Weber JL, Wong C: Mutation of human short tandem repeats. Hum Mol Genet 1993; 2: 1123-1128.
33. Nachman MW, Crowell SL: Estimate of the mutation rate per nucleotide in humans. Genetics 2000; 156: 297-304.
34. Atzmon G, Hao L, Pe'er I et al. Abraham's children in the genome era: major Jewish diaspora populations comprise distinct genetic clusters with shared Middle Eastern Ancestry. Am J Hum Genet 2010; 86: 850-859.
35. Ostrer H: A genetic profile of contemporary Jewish populations. Nat Rev Genet 2001; 2: 891-898.
36. Prinz J: The Secret Jews. Random House: New York, 1973.
37. Adams SM, Bosch E, Balaresque PL et al. The genetic legacy of religious diversity and intolerance: paternal lineages of Christians, Jews, and Muslims in the Iberian Peninsula. Am J Hum Genet 2008; 83: 725-736.
38. Velez C, Palamara PF, Guevara-Aguirre J et al. The impact of converso jews on the genomes of modern Latin Americans. Hum Genet 2012; 131: 251-263.
39. Im KM, Kirchhoff T, WangXetal: Haplotypestructure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers. Hum Genet 2011; 130: 685-699.
40. Pereira LHM, Pineda MA, Rowe WH et al. The BRCA1 Ashkenazi founder mutations occur on common haplotypes and are not highly correlated with anonymous single nucleotide polymorphisms likelyto be used in genome-wide case-control association studies. BMC Genet 2007; 8: 68-82.
41. Skinner P (ed): Jews in Medieval Britain. The Boydell Press: Woodbridge, 2003.