Translational advances regarding hereditary breast cancer syndromes

Gage, Michele M.; Wattendorf, Daniel J.; Henry, Leonard R.

doi:10.1002/jso.21856

Cited by 99 publications

(63 citation statements)

References 80 publications

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“…BCa is a disease with genetic background, but genetics may only explain 5% -10% of all cases [3]. Most BCa cases occur due to the mutations caused by the interaction between an environmental factor and a genetically susceptible host [3].…”

Section: Introductionmentioning

confidence: 99%

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Decreasing Birth Rate Determining Worldwide Incidence and Regional Variation of Female Breast Cancer

You¹,

Symonds²,

Rühli³

et al. 2018

ABCR

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Purpose: Urbanization, obesity and ageing associated with lifestyle changes (Westernized diet patterns, pollution, physical inactivity) have been proposed as the major contributing factors for the global rise in breast cancer (BCa) and have been the variables used to predict the future breast cancer rate. At the same time, socio-economic level, instead of birth rate, has been proposed for explanation of dramatic regional variations of breast cancer incidence. We sought to determine which factor plays the determining role in predicting worldwide breast cancer incidence rates and regional variations. Methods: Bivariate correlation was conducted to examine the relationships between country-specific estimates of birth rate, BCa incidence, urbanization, overweight, ageing and GDP. Partial correlation was performed to identify the correlation between BCa incidence with each independent variable while we controlled the other four variables. Multiple linear regression was used to identify the most significant predictors of BCa incidence. Post hoc Scheff and independent T-Test analysis were performed to compare mean differences in BCa incidence rates and residuals of BCa standardised on birth rate in the WHO regions, and UN developed and developing regions respectively. Results: Worldwide, BCa incidence rate tends to increase while birth rate decreases and urbanization, overweight, ageing and GDP increase. However, birth rate was the only variable that had a significant correlation with BCa incidence when controlled for the other four variables. Birth rate was the only significant predictor of BCa incidence in regression analysis. Multiple mean differences of BCa incidence between regions were significant, but all disappeared when the contributing effect of birth rate on BCa incidence rate was removed. Conclusions: Birth rate plays a determining role in worldwide BCa incidence rate and regional variations. Current BCa projection methods may estimate future rates of BCa poorly if they fail to incorporate the impact of birth rate.

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Section: Introductionmentioning

confidence: 99%

“…Most BCa cases occur due to the mutations caused by the interaction between an environmental factor and a genetically susceptible host [3].…”

Section: Introductionmentioning

confidence: 99%

Decreasing Birth Rate Determining Worldwide Incidence and Regional Variation of Female Breast Cancer

You¹,

Symonds²,

Rühli³

et al. 2018

ABCR

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“…Approximately 5-10% of oncological cases are due to inherited genetic defects in germ cells (1). The hereditary forms of breast cancer are mainly caused by mutations in the BRCA1 and BRCA2 tumor-suppressor genes, resulting in the production of non-functional proteins (2,3).…”

Section: Introductionmentioning

confidence: 99%

Next-generation sequencing of BRCA1 and BRCA2 in breast cancer patients and control subjects

Balabanski¹,

Dimova

et al. 2014

Molecular and Clinical Oncology

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Abstract. Breast cancer is currently the most common type of cancer in females. The majority of the hereditary forms of breast cancer are caused by mutations in the BRCA1 and BRCA2 genes, whose main function is the DNA repair of double-strand breaks. Genetic testing of females with a family history of breast cancer is recommended to determine their hereditary predisposition for this type of cancer. The variants with no clear clinical significance may represent a diagnostic challenge when performing targeted resequencing. In this study, DNA samples were obtained from 24 breast cancer patients (mean age, 35±10 years) with a positive family history and from 71 age-matched healthy controls. Informed consent was obtained from all the subjects. Sequence-targeted BRCA1 and BRCA2 libraries were prepared using the TruSeq Custom Amplicon method and sequenced on the Illumina MiSeq system. A wide range of variants were identified in the BRCA1 and BRCA2 genes. Two pathological̸presumably pathological variants were detected in the breast cancer patient group: a mutation in BRCA2 at the chromosomal (chr) position chr13:32890665, which affected the first position of the 5' splice region following exon 2; and a mutation in BRCA1 at chr17:41219635, causing an in-frame triple nucleotide deletion of valine 1688 (8.3%). In the patient and control groups, 7 likely polymorphic variants and 13 common variants were detected in the BRCA1 and BRCA2 genes. To the best of our knowledge, this study was the first to identify 3 common polymorphisms in BRCA2, characteristic solely of the Bulgarian population, including chr13:32973737, T̸-, a single-nucleotide polymorphism (SNP) within the 3'-UTR of exon 27; chr13:32973280, A̸-, a mononucleotide deletion within the 5'-UTR of exon 27; and chr13:32973924, T̸-, a mononucleotide deletion downstream of the gene sequence. To the best of our knowledge, this study was the first to apply next-generation sequencing of the BRCA1 and BRCA2 genes in a Bulgarian population, prompting further investigation for local founder mutations and variants characteristic for this particular region.

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“…Although genetic mutations are similar in every cancer type, some genes are specific to certain cancers. Mutations in BRCA1 and BRCA2 genes are the major genetic abnormalities reported in breast cancer, but mutations in some other genes such as P53, PTEN, STK11, CHEK2, ATM, BRIP1, PALB2, TWIST1 are also reported to be frequent (Gage et al, 2012;Khan et al, 2013). The identification of mutation in these genes has made the diagnosis of breast cancer comparatively easier, and has also led to some progress in understanding breast cancer and treatment development.…”

Section: Discussionmentioning

confidence: 99%

Relationship between SPOP mutation and breast cancer in Chinese population

Zhu¹,

Tania²,

Xl³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. SPOP protein has been found to have ubiquitin ligase activity. Mutations in SPOP gene have been recently reported in some cancers such as prostate, gastric, colorectal cancer. We investigated SPOP DNA mutation in tumor tissues collected from 70 Chinese female breast cancer patients in Southwestern China by DNA sequencing. The results did not show mutation in our tissue samples, indicating that a mutation in the SPOP gene may not be associated with breast cancer, particularly in Chinese women. This DNA mutation analysis or DNA genotyping may provide useful and important information for genetic counseling and personalized medical treatment for different types of cancers.

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Translational advances regarding hereditary breast cancer syndromes

Cited by 99 publications

References 80 publications

Decreasing Birth Rate Determining Worldwide Incidence and Regional Variation of Female Breast Cancer

Decreasing Birth Rate Determining Worldwide Incidence and Regional Variation of Female Breast Cancer

Next-generation sequencing of BRCA1 and BRCA2 in breast cancer patients and control subjects

Relationship between SPOP mutation and breast cancer in Chinese population

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