alexa Clinical, Genealogical and Molecular Genetic Studies - Among Twins with Familial Breast Cancer
ISSN: 2161-1041

Hereditary Genetics: Current Research
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Case Report

Clinical, Genealogical and Molecular Genetic Studies - Among Twins with Familial Breast Cancer

Kitsera N1*, Helner N1, Shparyk Ya2 and Osadchuk Z1

1 Institute of Hereditary Pathology, Lviv, Ukraine

2Lviv State Oncologic Regional Treatment and Diagnostic Center, Lviv, Ukraine

*Corresponding Author:
Nataliya Kitsera
National Academy of Medical Sciences of Ukraine
Institute of Hereditary Pathology, Lviv, Ukraine
E-mail: [email protected]

Received Date: April 10, 2013; Accepted Date: May 13, 2013; Published Date: May 18, 2013

Citation: Kitsera N, Helner N, Shparyk Ya, Osadchuk Z (2013) Clinical, Genealogical and Molecular Genetic Studies - Among Twins with Familial Breast Cancer. Genetics S2:002. doi: 10.4172/2161-1041.S2-002

` Copyright: © 2013 Kitsera N, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

Breast cancer (BC) is one of the most common malignant diseases in which incidence of cancer structure of the female’s population ranked first, accounting for 19.6% in Ukraine.

Aim: To analyse the most common Slavic mutations in the genes BRCA1/2 among twin women with BC with

family history on this pathology.

Materials and methods: The material of our study were pedigrees and DNA samples from 120 patients diagnosed with BC who were treated in the Lviv Regional State Cancer Diagnostic Center from June 2008 to December 2012. Molecular-genetic method determined the presence of seven mutations in the gene

BRCA1 (185delAG, 4153delA, 5382InsC, 188del11, 5396 +1 G> A, 185InsA, 5331 G> A) and 3 gene mutations in BRCA2 (6174delT, 6293S> G, 6024delTA) by allele-specific polymerase chain reaction.

Results: From 120 patients diagnosed with BC Slavic mutations in the genes

BRCA1/2 were found in 5 patients (4.2%). We study pedigrees in 3 pairs of twins where both sisters had BC and 2 pairs of twins where one of sister had BC Among 5 pairs of twins (10 women) 8 of them had BC and only 2 were healthy. BC was diagnosed at age 37-45 in six females and only in family at age 47-48 years.

All 8 women with BC mutations of genes BRCA1/2 were tested. The 6 women with BC no 10 Slavic mutations BRCA1/2 were found. Elder sister from DZ twins had ovarian and breast cancer (tested BRCA1

5382InsC mutation positive) died aged 50. A rare gene mutation BRCA2 c.6405_6409delCTTAA (p.Asn2135fs) was found in older sister of MZ twins at age 41with bilateral breast cancer.

Among 3 pairs of twins (2 DZ and 1 MZ) both sisters were affected. In families with two affected twins only II-

III degree relatives were BC diagnosed. Among 5 pairs of twins BC was diagnosed in I-III degree relatives in four families. BC affected mothers were recognized in two pairs of DZ twins.

Conclusion: Cancer incidence in twins is not always caused by known mutations. When disease had one of

twins, the other female has a more higher risk for BC. It is not always caused by known mutations and can be an important model for the study of genetic aspects of BC (4.2%). We study pedigrees in 3 pairs of twins where both sisters had BC and 2 pairs of twins where one of sister had BC Among 5 pairs of twins (10 women) 8 of them had BC and only 2 were healthy. BC was diagnosed at age 37-45 in six females and only in family at age 47-48 years. All 8 women with BC mutations of genes BRCA1/2 were tested. The 6 women with BC no 10 Slavic mutations BRCA1/2 were found. Elder sister from DZ twins had ovarian and breast cancer (tested BRCA1 5382InsC mutation positive) died aged 50. A rare gene mutation BRCA2 c.6405_6409delCTTAA (p.Asn2135fs) was found in older sister of MZ twins at age 41with bilateral breast cancer. Among 3 pairs of twins (2 DZ and 1 MZ) both sisters were affected. In families with two affected twins only IIIII degree relatives were BC diagnosed. Among 5 pairs of twins BC was diagnosed in I-III degree relatives in four families. BC affected mothers were recognized in two pairs of DZ twins.

Conclusion: Cancer incidence in twins is not always caused by known mutations. When disease had one of

twins, the other female has a more higher risk for BC. It is not always caused by known mutations and can be an important model for the study of genetic aspects of BC.

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