دورية أكاديمية
A high frequent BRCA1 founder mutation identified in the Greenlandic population.
| العنوان: | A high frequent BRCA1 founder mutation identified in the Greenlandic population. |
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| المؤلفون: | Harboe TL; Department of Cellular and Molecular Medicine, Faculty of Health Sciences, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark. larribaharboe@gmail.com, Eiberg H, Kern P, Ejlertsen B, Nedergaard L, Timmermans-Wielenga V, Nielsen IM, Bisgaard ML |
| المصدر: | Familial cancer [Fam Cancer] 2009; Vol. 8 (4), pp. 413-9. Date of Electronic Publication: 2009 Jun 07. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Springer Country of Publication: Netherlands NLM ID: 100898211 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7292 (Electronic) Linking ISSN: 13899600 NLM ISO Abbreviation: Fam Cancer Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Dordrecht : Springer Original Publication: Dordrecht ; Boston : Kluwer Academic Publishers, c2001- |
| مواضيع طبية MeSH: | Founder Effect* , Genes, BRCA1* , Genetic Predisposition to Disease*, Breast Neoplasms/*genetics , Ovarian Neoplasms/*genetics, Adult ; DNA Mutational Analysis ; Female ; Genotype ; Greenland ; Humans ; Inuit/genetics ; Mutation ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length |
| مستخلص: | Approximately 10% of all breast and ovarian cancers are dominantly inherited and mutations are mainly found in the BRCA 1 and 2 genes. The penetrance of BRCA1 mutations is reported to be between 68 and 92% and confers a 36-92% life time risk of breast cancer. Most mutations in BRCA1 are uniquely occurring mutations, but founder mutations have been described. In this study we describe a founder mutation with wide spread presence in the Inuit population. We have screened 2,869 persons from Greenland for the presence of a BRCA1 mutation (p.Cys39Gly) only found in the Inuit population. The overall carrier frequency was 1.6% in the general population, but the frequency differs geographically from 0.6% on the West coast to 9.7% in the previously isolated population of the East coast. This is to our knowledge the highest population frequency of a BRCA1 mutation ever to be described. To determine the clinical relevance of the mutation, we have examined ten breast cancer patients and nine ovarian cancer patients from Greenland for the presence of the p.Cys39Gly mutation. We found three ovarian cancer patients (33%) and one breast cancer patient (10%) carrying the mutation. The high number of women carrying a BRCA1 mutation known to trigger the development of potentially lethal diseases leads us to recommend an offer of genetic counselling and test for the mutation to all females of Inuit origin, thereby hopefully preventing a number of breast and ovarian cancer deaths. |
| References: | Nucleic Acids Res. 2006 Mar 06;34(5):1317-25. (PMID: 16522644) Breast Cancer Res Treat. 2009 May;115(1):69-76. (PMID: 18500671) Nucleic Acids Res. 2003 Jul 1;31(13):3812-4. (PMID: 12824425) Am J Hum Genet. 1998 Jul;63(1):45-51. (PMID: 9634504) J Clin Oncol. 2002 Mar 15;20(6):1480-90. (PMID: 11896095) Am J Hum Genet. 2000 Jul;67(1):203-6. (PMID: 10820128) Nat Genet. 1995 Apr;9(4):439-43. (PMID: 7795652) Nucleic Acids Res. 2002 Sep 1;30(17):3894-900. (PMID: 12202775) N Engl J Med. 1997 May 15;336(20):1401-8. (PMID: 9145676) CA Cancer J Clin. 2005 Mar-Apr;55(2):74-108. (PMID: 15761078) Cancer. 1996 Jun 1;77(11):2318-24. (PMID: 8635102) Breast. 2008 Dec;17(6):563-7. (PMID: 18835712) Eur J Cancer. 2004 Dec;40(18):2788-93. (PMID: 15571962) Am J Hum Genet. 2001 Mar;68(3):700-10. (PMID: 11179017) Genet Med. 2005 Jan;7(1):34-9. (PMID: 15654226) Am J Hum Genet. 1997 May;60(5):1079-84. (PMID: 9150155) Nat Genet. 1996 Oct;14(2):185-7. (PMID: 8841191) Oncogene. 2006 Sep 25;25(43):5832-6. (PMID: 16998497) BMC Cancer. 2007 Jul 19;7:132. (PMID: 17640379) Biotechniques. 1991 Apr;10(4):506-13. (PMID: 1867860) Cancer Res. 1996 Aug 15;56(16):3663-5. (PMID: 8706004) Proc Natl Acad Sci U S A. 1971 Apr;68(4):820-3. (PMID: 5279523) BMJ. 2000 Sep 9;321(7261):624-8. (PMID: 10977847) Nat Genet. 1995 Oct;11(2):198-200. (PMID: 7550349) Acta Oncol. 2008;47(4):772-7. (PMID: 18465347) Nat Genet. 1996 Dec;14(4):430-40. (PMID: 8944023) Int J Cancer. 2008 Jun 1;122(11):2568-72. (PMID: 18214857) Am J Phys Anthropol. 2006 May;130(1):123-34. (PMID: 16353217) Science. 1974 Sep 6;185(4154):862-4. (PMID: 4843792) J Biol Chem. 1998 Apr 3;273(14):7795-9. (PMID: 9525870) Int J Circumpolar Health. 2004;63 Suppl 2:189-91. (PMID: 15736649) Science. 2003 Oct 24;302(5645):643-6. (PMID: 14576434) Am J Hum Genet. 1998 Mar;62(3):676-89. (PMID: 9497246) J Med Genet. 2004 Jul;41(7):492-507. (PMID: 15235020) Int J Cancer. 2003 Dec 20;107(6):1017-22. (PMID: 14601064) |
| تواريخ الأحداث: | Date Created: 20090609 Date Completed: 20100108 Latest Revision: 20221207 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1007/s10689-009-9257-5 |
| PMID: | 19504351 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 1573-7292 |
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| DOI: | 10.1007/s10689-009-9257-5 |