Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2012 Jun 19;10(1):7.
doi: 10.1186/1897-4287-10-7.

Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon

Nadine Jalkh  1 , Jinane Nassar-Slaba, Eliane Chouery, Nabiha Salem, Nancy Uhrchammer, Lisa Golmard, Domique Stoppa-Lyonnet, Yves-Jean Bignon, André Mégarbané
Affiliations

Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon

Nadine Jalkh et al. Hered Cancer Clin Pract. .

Abstract

Breast cancer is the most prevalent malignancy in women in Western countries, currently accounting for one third of all female cancers. Familial aggregation is thought to account for 5-10 % of all BC cases, and germline mutations in BRCA1 and BRCA2 account for less of the half of these inherited cases. In Lebanon, breast cancer represents the principal death-causing malignancy among women, with 50 % of the cases diagnosed before the age of 50 years.In order to study BRCA1/2 mutation spectra in the Lebanese population, 72 unrelated patients with a reported family history of breast and/or ovarian cancers or with an early onset breast cancer were tested. Fluorescent direct sequencing of the entire coding region and intronic sequences flanking each exon was performed.A total of 38 BRCA1 and 40 BRCA2 sequence variants were found. Seventeen of them were novel. Seven confirmed deleterious mutations were identified in 9 subjects providing a frequency of mutations of 12.5 %. Fifteen variants were considered of unknown clinical significance according to BIC and UMD-BRCA1/BRCA2 databases.In conclusion, this study represents the first evaluation of the deleterious and unclassified genetic variants in the BRCA1/2 genes found in a Lebanese population with a relatively high risk of breast cancer.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Pedigrees of the families presentingBRCA1(A-E) andBRCA2(F,G) mutations. Squares and circles with solid dark color indicate the affected individuals. The dots in the squares and circles with solid dark color indicate the affected individuals.
See this image and copyright information in PMC

Similar articles

  • Next-generation sequencing in familial breast cancer patients from Lebanon.
    Jalkh N, Chouery E, Haidar Z, Khater C, Atallah D, Ali H, Marafie MJ, Al-Mulla MR, Al-Mulla F, Megarbane A. Jalkh N, et al. BMC Med Genomics. 2017 Feb 15;10(1):8. doi: 10.1186/s12920-017-0244-7. BMC Med Genomics. 2017. PMID: 28202063 Free PMC article.
  • Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India.
    Saxena S, Chakraborty A, Kaushal M, Kotwal S, Bhatanager D, Mohil RS, Chintamani C, Aggarwal AK, Sharma VK, Sharma PC, Lenoir G, Goldgar DE, Szabo CI. Saxena S, et al. BMC Med Genet. 2006 Oct 4;7:75. doi: 10.1186/1471-2350-7-75. BMC Med Genet. 2006. PMID: 17018160 Free PMC article.
  • BRCA1 and BRCA2 mutations in ethnic Lebanese Arab women with high hereditary risk breast cancer.
    El Saghir NS, Zgheib NK, Assi HA, Khoury KE, Bidet Y, Jaber SM, Charara RN, Farhat RA, Kreidieh FY, Decousus S, Romero P, Nemer GM, Salem Z, Shamseddine A, Tfayli A, Abbas J, Jamali F, Seoud M, Armstrong DK, Bignon YJ, Uhrhammer N. El Saghir NS, et al. Oncologist. 2015 Apr;20(4):357-64. doi: 10.1634/theoncologist.2014-0364. Epub 2015 Mar 16. Oncologist. 2015. PMID: 25777348 Free PMC article.
  • Genetic Tests for Breast and Ovarian Cancer [Internet].
    Juvet LK, Natvig Norderhaug I. Juvet LK, et al. Oslo, Norway: Knowledge Centre for the Health Services at The Norwegian Institute of Public Health (NIPH); 2008 Feb. Report from Norwegian Knowledge Centre for the Health Services (NOKC) No. 05-2008. Oslo, Norway: Knowledge Centre for the Health Services at The Norwegian Institute of Public Health (NIPH); 2008 Feb. Report from Norwegian Knowledge Centre for the Health Services (NOKC) No. 05-2008. PMID: 29319983 Free Books & Documents. Review.
  • Hereditary breast cancer; Genetic penetrance and current status with BRCA.
    Mahdavi M, Nassiri M, Kooshyar MM, Vakili-Azghandi M, Avan A, Sandry R, Pillai S, Lam AK, Gopalan V. Mahdavi M, et al. J Cell Physiol. 2019 May;234(5):5741-5750. doi: 10.1002/jcp.27464. Epub 2018 Dec 14. J Cell Physiol. 2019. PMID: 30552672 Review.
See all similar articles

Cited by

See all "Cited by" articles

References

    1. Ferla R, Calo V, Cascio S, Rinaldi G, Badalamenti G, Carreca I, Surmacz E, Colucci G, Bazan V, Russo A. Founder mutations in BRCA1 and BRCA2 genes. Ann Oncol. 2007;18(6):93–98. - PubMed
    1. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W. et al.A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994;266:66–71. doi: 10.1126/science.7545954. - DOI - PubMed
    1. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G. Identification of the breast cancer susceptibility gene BRCA2. Nature. 1995;378:789–792. doi: 10.1038/378789a0. - DOI - PubMed
    1. Claus EB, Schildkraut JM, Thompson WD, Risch NJ. The genetic attributable risk of breast and ovarian cancer. Cancer. 1996;77:2318–2324. doi: 10.1002/(SICI)1097-0142(19960601)77:11<2318::AID-CNCR21>3.0.CO;2-Z. - DOI - PubMed
    1. Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE. Breast Cancer Linkage Consortium: Risks of cancer in BRCA1-mutation carriers. Lancet. 1994;343:692–695. doi: 10.1016/S0140-6736(94)91578-4. - DOI - PubMed

LinkOut - more resources