Tags

Type your tag names separated by a space and hit enter

Hereditary breast cancer syndromes in a Turkish population. Results of molecular germline analysis.
Cancer Genet Cytogenet 2005; 160(2):164-8CG

Abstract

Breast cancer is the most common malignancy which affects women. In 5-10% of all cases, breast cancer presents as a hereditary cancer syndrome. Since 1996, 68 families with suspicion of familial breast cancer have been referred to our department. In 5 of the 68 families (7.4%), the clinical diagnosis was hereditary breast ovarian cancer syndrome. In 17 families (25%), two or more breast cancer cases were present. Mutation screening of BRCA1 and BRCA2 in these families revealed a BRCA1 mutation (185delAG) in one family. Three families (4.4%) had a diagnosis of Li-Fraumeni syndrome and germline mutations in TP53 (Lys292Ile, Pro278Ser and Pro278Thr). Breast cancer occurred in a family with hereditary nonpolyposis colon carcinoma (HNPCC; Lynch syndrome) carrying an MLH1 mutation (IVS17-3G>C). Most of our families (41 families; 60.2%) had only one case with breast cancer or cystic adenoma (or both) and did not need counseling and DNA testing. In summary, in 10 of the 68 families in our series (14.7%), a germline mutation in a breast cancer predisposing gene was detected. Our data show the importance of detailed examination of clinical data, pedigree analyses, and molecular germline diagnostics for the counseling of breast cancer cases.

Authors+Show Affiliations

Department of Medical Biology, Gülhane Medical Faculty, Izmir Caddesi, Moda Işhani, A Blok, Kat: 3, No: 131, 06440-Kizilay-Ankara, Turkey. sefguran@yahoo.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

15993273

Citation

Güran, Sefik, et al. "Hereditary Breast Cancer Syndromes in a Turkish Population. Results of Molecular Germline Analysis." Cancer Genetics and Cytogenetics, vol. 160, no. 2, 2005, pp. 164-8.
Güran S, Ozet A, Dede M, et al. Hereditary breast cancer syndromes in a Turkish population. Results of molecular germline analysis. Cancer Genet Cytogenet. 2005;160(2):164-8.
Güran, S., Ozet, A., Dede, M., Gille, J. J., & Yenen, M. C. (2005). Hereditary breast cancer syndromes in a Turkish population. Results of molecular germline analysis. Cancer Genetics and Cytogenetics, 160(2), pp. 164-8.
Güran S, et al. Hereditary Breast Cancer Syndromes in a Turkish Population. Results of Molecular Germline Analysis. Cancer Genet Cytogenet. 2005 Jul 15;160(2):164-8. PubMed PMID: 15993273.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hereditary breast cancer syndromes in a Turkish population. Results of molecular germline analysis. AU - Güran,Sefik, AU - Ozet,Ahmet, AU - Dede,Murat, AU - Gille,Johan J P, AU - Yenen,Müfit Cemal, PY - 2004/07/22/received PY - 2004/12/28/revised PY - 2005/01/04/accepted PY - 2005/7/5/pubmed PY - 2005/8/5/medline PY - 2005/7/5/entrez SP - 164 EP - 8 JF - Cancer genetics and cytogenetics JO - Cancer Genet. Cytogenet. VL - 160 IS - 2 N2 - Breast cancer is the most common malignancy which affects women. In 5-10% of all cases, breast cancer presents as a hereditary cancer syndrome. Since 1996, 68 families with suspicion of familial breast cancer have been referred to our department. In 5 of the 68 families (7.4%), the clinical diagnosis was hereditary breast ovarian cancer syndrome. In 17 families (25%), two or more breast cancer cases were present. Mutation screening of BRCA1 and BRCA2 in these families revealed a BRCA1 mutation (185delAG) in one family. Three families (4.4%) had a diagnosis of Li-Fraumeni syndrome and germline mutations in TP53 (Lys292Ile, Pro278Ser and Pro278Thr). Breast cancer occurred in a family with hereditary nonpolyposis colon carcinoma (HNPCC; Lynch syndrome) carrying an MLH1 mutation (IVS17-3G>C). Most of our families (41 families; 60.2%) had only one case with breast cancer or cystic adenoma (or both) and did not need counseling and DNA testing. In summary, in 10 of the 68 families in our series (14.7%), a germline mutation in a breast cancer predisposing gene was detected. Our data show the importance of detailed examination of clinical data, pedigree analyses, and molecular germline diagnostics for the counseling of breast cancer cases. SN - 0165-4608 UR - https://www.unboundmedicine.com/medline/citation/15993273/Hereditary_breast_cancer_syndromes_in_a_Turkish_population__Results_of_molecular_germline_analysis_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0165-4608(05)00014-2 DB - PRIME DP - Unbound Medicine ER -