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

Ozolina, Silvija; Siņicka, Olga; Jankevics, Eriks; Inashkina, Inna; Lubiński, Jan; Górski, Bohdan; Gronwald, Jacek; Наседкина, Т. В.; Федорова, О Е; Lyubchenko, L. N.; Tihomirova, Laima

doi:10.1007/s10689-008-9224-6

Cited by 8 publications

(4 citation statements)

References 7 publications

(8 reference statements)

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“…We also found this mutation in our study. BRCA1 c.4035delA is one of the most common BRCA mutations found in Poland and the Baltic countries, being detected in 16.3% of unrelated Baltic ovarian cancer patients (37). Surprisingly, this mutation has neither been previously identified in Romania, nor in the present study.…”

Section: Discussioncontrasting

confidence: 82%

High frequency of BRCA recurrent mutations in a consecutive series of unselected ovarian cancer patients

Negura

Braescu

Morariu

et al. 2020

Revista Romana De Medicina De Laborator

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Hereditary predisposition to breast and ovarian cancer (HBOC) is diagnosed by molecular analysis of deleterious mutations in BRCA genes, allowing oncogenetic follow-up of patients and of their families. BRCA testing addresses only to HBOC families, using restrictive inclusion criteria based on familial history of cancer and age at diagnosis. Sporadic ovarian cancer has high incidence and mortality in Romania, with low median age of diagnosis and possibly a higher magnitude of hereditary contribution comparing to othe populations. However, sporadic ovarian cancers do not qualify for BRCA testing according to inclusion criteria, and a complete BRCA screening of all cancers is neither feasible nor recommended. Despite the large diversity of BRCA mutations worldwide, some recurrent mutations have higher frequencies in diverse populations. Precisely screening for recurrent mutations in a target population allows to rapidly identifying mutation carriers without sequencing the entire BRCA genes. In Romanian population and neighboring countries, several recurrent mutations have already been described. In a consecutive series of 50 sporadic ovarian cancer patients, not qualifying for BRCA complete testing, we screened for 9 most common BRCA mutations, by multiplex-PCR, RFLP and targeted Sanger sequencing. Our results revealed 6 different BRCA mutations in 8 unrelated patients, with a frequency of 16%, much higher than expected. We further recommend screening for the identified mutations in larger series of cancer patients. The results are highly beneficial to cancer patients, healthy relatives, and overall, considering prevention in cancer a priority, to public health system and future of oncogenetics in Romania

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Section: Discussioncontrasting

confidence: 82%

High frequency of BRCA recurrent mutations in a consecutive series of unselected ovarian cancer patients

Negura

Braescu

Morariu

et al. 2020

Revista Romana De Medicina De Laborator

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“…It was also reported several times from Russia, Poland, has been predominantly detected in individuals of Eastern European and also is the most characteristic BRCA1 mutation in Lithuania [53, 54]. A common shared haplotype, with probable Lithuanian origin, was reported in these mutation carriers [159]. The BRCA1 c.181T>G is the third recurrent mutation in Latvia, but is not very commonly found.…”

Section: Founder Brca1 and Brca2 Mutations In European Populationsmentioning

confidence: 92%

“…The most frequently observed is BRCA1 c.4035delA mutation, which is more frequent in families of Baltic (Lithuanian) origin rather than Slavic [53, 54, 161], and was detected in 16.3% (7/43) of unrelated ovarian cancer patients unselected for family history in one study [159]. Among BRCA1 positive patients in a single population, this particular mutation has the highest proportion identified to date (53%), where in neighbouring countries (Latvia, Poland, Belarus and Russia) it accounts for around 40% [Tihomirova, personal communication], 10% [40], 9% [49] and 9% [41] respectively of all BRCA1 mutations.…”

Section: Founder Brca1 and Brca2 Mutations In European Populationsmentioning

confidence: 99%

Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control

2010

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Detection of mutations in hereditary breast and ovarian cancer-related BRCA1 and BRCA2 genes is an effective method of cancer prevention and early detection. Different ethnic and geographical regions have different BRCA1 and BRCA2 mutation spectrum and prevalence. Along with the emerging targeted therapy, demand and uptake for rapid BRCA1/2 mutations testing will increase in a near future. However, current patients selection and genetic testing strategies in most countries impose significant lag in this practice. The knowledge of the genetic structure of particular populations is important for the developing of effective screening protocol and may provide more efficient approach for the individualization of genetic testing. Elucidating of founder effect in BRCA1/2 genes can have an impact on the management of hereditary cancer families on a national and international healthcare system level, making genetic testing more affordable and cost-effective. The purpose of this review is to summarize current evidence about the BRCA1/2 founder mutations diversity in European populations.

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“…Ozolina i wsp., analizując mutację 4153delA w trzech państwach (Rosja, Łotwa, Polska), sugerują, że ma ona wspólne pochodzenie [30]. W naszej opinii mutacja 4153delA ma nie tak etniczną, jak geograficzną wspólność -i poszerzona w ziemiach między Bałtykiem a Morzem Czarnym odpowiada terytorium Wielkiego Księstwa Litewskiego, które istniało już w XIII-XVIII wieku, a później -Rzeczypospolitej.…”

Section: Dyskusjaunclassified

Mutacja BRCA1 4153delA („bałtycko-czarnomorska”) u chorych na raka piersi na Ukrainie

Kitsera¹,

Shparyk²,

Bilynsky³

et al. 2014

Nowotwory. Journal of Oncology

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Rak piersi (RP) jest najczęstszą postacią raka występującą w populacji kobiet na Ukrainie. Cel. Analiza najczęstszych mutacji w genach BRCA1/2 u kobiet na Ukrainie Zachodniej chorych na raka piersi (RP), obciążonych genetycznie tą patologią. Materiał i metody. Kliniczne i genealogiczne badanie objęło 335 pacjentek chorych na RP konsultowanych w Oddziale Chemioterapii (Lwowskiego Państwowego Regionalnego Centrum Onkologicznego Leczniczo-Diagnostycznego) w okresie luty-wrzesień 2012 r. w celu stwierdzenia występowania nowotworów złośliwych u krewnych. Poprzez metody molekularno-genetyczne określono obecność siedmiu mutacji w genie BRCA1 (185delAG, 4153delA, 5382insC, 188del11, 5396 +1 G> A, 185InsA, 5331 G> A) i 3 mutacje w genie BRCA2 (6174delT, 6293S> G, 6024delTA), odpowiedzialnych za dziedziczne formy RP. Wyniki. Kliniczno-genealogiczne badanie 335 pacjentek chorych na RP wykazało, że u co dziewiątej z nich (u 36, czyli u 10,7%) były stwierdzone przypadki RP wśród krewnych. W grupie 125 kobiet ze stwierdzonym rodzinnym obciążeniem RP w 5 przypadkach (4%) zidentyfikowano mutacje w genach BRCA1/2 (5382insC-2, 185delAG-2 i 4153delA-1). Wszystkie zidentyfikowane mutacje stanowiły trzy najczęściej spotykane przypadki opisane w literaturze w Europie Środkowej i Wschodniej (geograficznie-regionie Morza Bałtyckiego i Czarnego). Wniosek. Wśród wszystkich zidentyfikowanych mutacji (BRCA1 185delAG, 5382insC i 4153delA) u kobiet chorych na RP na Ukrainie Zachodniej stwierdzono trzy najczęściej cytowane mutacje w literaturze Europy Środkowej i Wschodniej oraz siedem mutacji rzadszych. BRCA1 4153delA mutation ("Baltic/Black Sea") in breast cancer patients in Ukraine Purpose. To analyze the most common mutations in the genes BRCA1/2 among women from West Ukraine with breast cancer (BC) who are burdened with a family history of this pathology. Materials and methods. 335 patients with (BC) from West Ukraine studied pedigrees and 125 DNA samples. A 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). Results. Only every 9th patient with BC had BC in his family history. It is this group we examined in detail for the BRCA1/2 gene mutations presence. BRCA1/2 gene mutations were found in 5 patients (4%) among 125 women with BC who are burdened with family history of this pathology. In 2 cases diagnosed mutation of the gene BRCA1 (5382 Ins C), and 2-BRCA1 185 del AG, 4153delA-1. Аll mutations belonged to the group of founder mutations in the ethnic group of Ashkenazi Jews and the geographical group of Baltic-Black Sea region.

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

Cited by 8 publications

References 7 publications

High frequency of BRCA recurrent mutations in a consecutive series of unselected ovarian cancer patients

High frequency of BRCA recurrent mutations in a consecutive series of unselected ovarian cancer patients

Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control

Mutacja BRCA1 4153delA („bałtycko-czarnomorska”) u chorych na raka piersi na Ukrainie

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