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

Janavičius, Ramūnas

doi:10.1007/s13167-010-0037-y

Cited by 204 publications

(172 citation statements)

References 154 publications

Supporting

Mentioning

150

Contrasting

Unclassified

Order By: Relevance

“…26 The same mutation was reported in three patients by Mannan et al 19 suggesting that there may be a common ancestry or they migrated from the same place.…”

Section: Discussionsupporting

confidence: 58%

Pedigree and BRCA gene analysis in breast cancer patients to identify hereditary breast and ovarian cancer syndrome to prevent morbidity and mortality of disease in Indian population

et al. 2017

View full text Add to dashboard Cite

Global burden of breast cancer is expected to increase to >2 million new cases every year by 2030 and 10% of these are likely to have hereditary breast and ovarian cancer syndrome. Identifying these individuals by pedigree and BRCA1/2 mutation analyses will enable us to offer targeted mutation testing and appropriate counseling. This study from a tertiary care hospital showed that of the 127 breast cancer patients on treatment during 2014-2015, 24 of them fulfilled the criteria of hereditary breast and ovarian cancer syndrome after detailed verbal autopsy and pedigree analysis, and BRCA1 and 2 next-generation sequencing done after pre-test counseling revealed mutations in 13 cases (54%), these included 9 BRCA1 mutations (69%) and 4 BRCA2 mutation (31%). Subsequent post-test counseling recommended targeted mutation analysis for 64 high-risk members in these 13 families with pathogenic mutations, which will help in surveillance for early detection, appropriate management, and prevention of the disease by decreasing the burden to both family and nation. Results from this preliminary study highlight the importance of genetic counseling, pedigree analysis, and genetic testing. It can be recommended that all oncology units should have a genetic counseling service for providing appropriate support to oncologists, patients, and families to prevent unnecessary testing; however, breast cancer screening program is incomplete without evaluating for hereditary breast and ovarian cancer syndrome.

show abstract

“…26 The same mutation was reported in three patients by Mannan et al 19 suggesting that there may be a common ancestry or they migrated from the same place.…”

Section: Discussionsupporting

confidence: 58%

Pedigree and BRCA gene analysis in breast cancer patients to identify hereditary breast and ovarian cancer syndrome to prevent morbidity and mortality of disease in Indian population

et al. 2017

View full text Add to dashboard Cite

show abstract

“…As found more than 1000 mutations of genes BRCA1/2 [16] are in various regions and ethnic groups of the spectrum and frequency of mutations in the genes BRCA1/2 are different [17][18][19]. Mutations 5382insC (BRCA1) and 6174delT (BRCA2) were identified in families of patients with BC and ovarian cancer or prostate in Ashkenazi Jews.…”

Section: Resultsmentioning

confidence: 99%

“…Mutations 5382insC (BRCA1) and 6174delT (BRCA2) were identified in families of patients with BC and ovarian cancer or prostate in Ashkenazi Jews. Mutation 5382insC is responsible for approximately 2.5% of BC, but under "high risk" (family oncology anamnesis, bilateral BC at a young age), it is found in 10% of patients [18].…”

Section: Resultsmentioning

confidence: 99%

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

N¹

2012

Hereditary Genetics

View full text Add to dashboard Cite

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.

show abstract

“…4. The implications of mutations in Founder BRCA1/2 for the early detection and prevention of hereditary breast-ovarian cancer are discussed [4]. A definition of a founder effect is an effect on gene frequency in a population with a small number of original settlers, or "founders", when one or more founders had that gene.…”

Section: The Connection Between the Two Concepts "First Domentioning

confidence: 99%

Cancer diagnostics and treatment: are we ready to implement PPPM?

Desiderio

2010

EPMA Journal

View full text Add to dashboard Cite

The scientific community is always excited whenever a new journal appears in the open scientific literature. Such was the case when the first issue of the EPMA Journal of International Reviews in Predictive, Preventive and Personalized Medicine (PPPM) appeared in 2010.This present issue focuses on PPPM in Cancer, and it contains a spectrum of topics that covers the range from basic research, via clinical research, to potential implementation. Each review focuses on one or a reasonable combination of the three main topics embodied in the EPMA journal, and highlights the predictive, preventive, and personalized aspects of cancer treatment. It is clear from the scientific literature, in general, and in each one of the reviews in this issue, in particular, that the next quantum leap in clinical science now derives explicitly from one or more of those three features of medicine: accurate prediction, efficacious prevention, and detailed personalized treatment. The objective of this journal and of this issue on cancer is to present state-of-the-art results from researchers from around the world, and to provide timely reviews of cutting-edge basic research, clinical research, and clinical results. The reviews will range from the molecular level (DNA, RNA, proteins, metabolites), the cellular level, clinical research, and clinical practice.A brief overview follows of each topic that appears in this current issue of PPPM in Cancer. These reviews cover the following areas of research: the "First Do No Harm" concept; the shift from correlative to predictive oncology; selenium and oxidative stress in cancer; BRCA1 and BRCA2 gene mutations; a proposal for non-invasive proteomics in breast cancer; gene-expression profiling in breast cancer; proteomics and nitroproteomics of pituitary adenomas; epidemiological analysis of gastric adenocarcinomas; endoscopic diagnosis for the early detection of gastrointestinal cancer; fluoropyrimidine toxicity and polymorphisms of the dihydropyrimidine dehydrogenase gene; and circulating DNA and RNA.

show abstract

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

Cited by 204 publications

References 154 publications

Pedigree and BRCA gene analysis in breast cancer patients to identify hereditary breast and ovarian cancer syndrome to prevent morbidity and mortality of disease in Indian population

Pedigree and BRCA gene analysis in breast cancer patients to identify hereditary breast and ovarian cancer syndrome to prevent morbidity and mortality of disease in Indian population

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

Cancer diagnostics and treatment: are we ready to implement PPPM?

Contact Info

Product

Resources

About