High Incidence of 4153delA BRCA1 Gene Mutations in Lithuanian Breast- and Breast-ovarian Cancer Families

Gronwald, Jacek; Elsakov, Pavel; Górski, Bohdan; Lubiński, Jan

doi:10.1007/s10549-005-5150-6

Cited by 21 publications

(21 citation statements)

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“…These results confirm the frequency of BRCA1 founder mutations in the ovarian cancer group is considerably higher. These results also confirm the earlier data on the presence of a BRCA1 founder effect in Latvia, shared with Poland, Lithuania, Belarus and, to a lesser extent, other East European populations (Oszurek et al, 2001;Gronwald et al, 2005;Gronwald et al, 2008). The most frequent mutations in the BRCA1 gene are 4153delA and 5382 insC.…”

Section: Discussionsupporting

confidence: 91%

“…The low proportion of clinically positive hereditary breast-ovarian cancer cases in our study may be due to the relatively small family size in Latvia, due to migration, mainly connected with the Second World War, deportations, poor social and economical status of Latvia over many decades, and a low birth rate. The frequency of clinically suspected hereditary breast-ovarian cancer was similar to that of other geographic areas (Oszurek et al, 2001;Gronwald et al, 2005). Overall, the frequency in breast cancer group of the three BRCA1 founder mutations was 3.0%, but in ovarian cancer group -11%, more than three times higher.…”

Section: Discussionsupporting

confidence: 68%

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Epidemiological, Clinical, Molecular Features and Early Detection Strategy of Most Frequent Hereditary Cancers in Latvia

Gardovskis¹,

Štrumfa²,

Miklaševičs³

et al. 2009

Proceedings of the Latvian Academy of Sciences. Section B. Natural, Exact, and Applied Sciences.

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Contributed by Jânis GardovskisThe aim of the study was to determine epidemiological, clinical and molecular features of hereditary breast-ovarian, colorectal, endometrial, prostate Only 22.0 % of patients were diagnosed with stage I or II disease. The majority of ovarian cancers (78.0 %) were diagnosed with stage III or IV disease. Therefore, it is very important to identify the group at risk from breast and ovarian cancers in order to employ prevention or early detection of cancer in patients and their family members.The majority of breast and ovarian cancers are considered sporadic. Approximately 15-20% of all breast and ovarian cancers are hereditary (Ford et al., 1998;Vasen et al., 2001;Jacobi et al., 2003). The incidence of hereditary breast and ovarian cancer may vary considerably among different populations and ethnic groups. In the last ten years, mutations in both BRCA1 and BRCA2 genes have been shown to be responsible for the development of hereditary breast and ovarian cancer. The aim of the study was to determine clinical and molecular and pathological features of hereditary breast and ovarian cancer in Latvia. There is continuing interest in identifying DNA variants associated with moderately increased risk of cancer. Several studies have suggested an increased risk of cancer in individuals who carry a mutation in the CHEK2 gene, one of the genes in the DNA damage signaling pathway. Originally, a single founder allele in CHEK2, 1100delC, was reported to be a low penetrance breast cancer susceptibility allele in several studies, and in many ethnic groups (Jarvinen, 1992;Bülow et al., 1996; Gorski et al., 2000;Chapelle, 2004). Then, a positive association was found between CHEK2 variants and prostate cancer in the USA, Finland and Poland (Bisgaard et al, 2004;Aretz et al., 2007;Anonîms, 2007). Recently, it was reported that individuals with a single common founder allele in Poland (the I157T missense variant) have increased risk of cancer development in many organs including the breast, prostate, thyroid, kidney and colon (Kilpivaara et al., 2003). The NOD2 gene is associated with susceptibility to inflammatory bowel disease, in particular, with Crohn's disease . It was reported that a single truncating mutation in NOD2, 3020insC, may confer increased risk of late onset colorectal cancer (Ogura et al., 2001) and then that a NOD2 mutation may be associated with increased susceptibility to lung, ovarian, early-onset laryngeal cancer and early onset breast cancer (Lichtenstein et al., 2000). It has not been established whether CHEK2 and NOD2 variants are present in Latvia and whether inherited variation in these genes influences cancer risk in this population.The aim of the study was to investigate the clinical and molecular features of hereditary colorectal cancer syndromes in Latvia in order to offer and provide predictive genetic testing of the affected families.Endometrial cancer. Endometrial cancer (EC) is among the three most common cancers in females in Latvia. There are approximately 390 new c...

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Section: Discussionsupporting

confidence: 91%

Section: Discussionsupporting

confidence: 68%

Epidemiological, Clinical, Molecular Features and Early Detection Strategy of Most Frequent Hereditary Cancers in Latvia

Gardovskis¹,

Štrumfa²,

Miklaševičs³

et al. 2009

Proceedings of the Latvian Academy of Sciences. Section B. Natural, Exact, and Applied Sciences.

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“…However, due to extensive screening of the BRCA1 gene in this population a significant number of the 4154delA mutation carriers have been identified. Several carriers of the 4154delA mutation were detected in Russia and it has been shown recently by analysis of a limited number of samples that the 4154delA mutation is the most prevalent breast cancer predisposing mutation among hereditary cancer patients from Lithuania [6]. This mutation has been predominantly detected in individuals of Eastern European origin (BIC database).…”

Section: Introductionmentioning

confidence: 99%

The 4154delA mutation carriers in the BRCA1 gene share a common ancestry

et al. 2008

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Uncertainty exists whether the 4154delA mutation of the BRCA1 gene detected in unrelated individuals from Latvia, Poland and Russia is a founder mutation with a common ancestral origin. To trace back this problem we analysed the mutation-associated haplotype of the BRCA1 intragenic SNPs as well as intragenic and nearby STR markers in mutation carriers from the aforementioned populations. The mutation-associated SNP alleles were found to be "T-A-A-A-A-G" for six intragenic SNPs of the BRCA1 gene (IVS8-58delT, 3232A/G, 3667A/G, IVS16-68A/G, IVS16-92A/G, IVS18+66G/A, respectively). The alleles 195, 154, 210 and 181 were found to be associated with the 4154delA mutation for STR markers D17S1325, D17S855, D17S1328 and D17S1320, correspondingly. Further analysis of markers in the 4154delA mutation carriers from all three populations allows us to assert that all analysed mutation carriers share a common ancestry.

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“…Founder mutations in BRCA1 gene have been recently described in Eastern Baltic Sea region, with variable distribution in Baltic (Latvian [1] and Lithuanian [2]) and Slavic (Polish [3], Belorussian [4], Russian [5]) populations, accounting for 80-90% of all mutations. However, data about its incidence in Lithuania are inconclusive and based on one study where only three mutations were tested in BRCA1 gene [2].…”

Section: Introductionmentioning

confidence: 99%

“…However, data about its incidence in Lithuania are inconclusive and based on one study where only three mutations were tested in BRCA1 gene [2].…”

Section: Introductionmentioning

confidence: 99%

Novel and common BRCA1 mutations in familial breast/ovarian cancer patients from Lithuania

Janavičius

Pepalytė

Kučinskas

2008

Breast Cancer Res Treat

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HAL is a multi-disciplinary open access archive for the deposit and dissemination of scientific research documents, whether they are published or not. The documents may come from teaching and research institutions in France or abroad, or from public or private research centers. L'archive ouverte pluridisciplinaire HAL, est destinée au dépôt et à la diffusion de documents scientifiques de niveau recherche, publiés ou non, émanant des établissements d'enseignement et de recherche français ou étrangers, des laboratoires publics ou privés. Novel and common BRCA1 mutations in familial breast/ovarian cancer patients from LithuaniaRamūnas Janavičius, Ingrida Pepalytė, Vaidutis Kučinskas To cite this version:Ramūnas Janavičius, Ingrida Pepalytė, Vaidutis Kučinskas. Novel and common BRCA1 mutations in familial breast/ovarian cancer patients from Lithuania.

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High Incidence of 4153delA BRCA1 Gene Mutations in Lithuanian Breast- and Breast-ovarian Cancer Families

Cited by 21 publications

References 10 publications

Epidemiological, Clinical, Molecular Features and Early Detection Strategy of Most Frequent Hereditary Cancers in Latvia

Epidemiological, Clinical, Molecular Features and Early Detection Strategy of Most Frequent Hereditary Cancers in Latvia

The 4154delA mutation carriers in the BRCA1 gene share a common ancestry

Novel and common BRCA1 mutations in familial breast/ovarian cancer patients from Lithuania

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