Hereditary breast cancer: ever more pieces to the polygenic puzzle

Bogdanova, Natalia; Helbig, Sonja; Dörk, Thilo

doi:10.1186/1897-4287-11-12

Cited by 61 publications

(52 citation statements)

References 153 publications

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“…But, discernible bottleneck is the less response towards genomic insults due to the acquired survival strategy by breast carcinoma [1,3,25]. Specifically, triple-negative breast cancers (TNBC) referred as hormone receptor negative (hormone insensitive) and HER-2 negative display inactivation of BRCA1 and DNA repair defects [4,25,26,27]. Besides tumor grade, molecular subtypes are preferentially used in the research settings, where Luminal A is classified as ER-positive and/or PR-positive, HER2-negative with Low Ki67.…”

Section: Dna Repair Response and Breast Carcinoma Phenotypesmentioning

confidence: 99%

“…Another breast carcinoma molecular subtype is referred as Luminal B defined by ER-positive and/or PR-positive, HER2-positive (or HER2-negative with high Ki67) with prevalence around 10-20%. Another molecular subtype as Triple negative/basal-like is noted as ER-negative/PR-negative/HER2-negative with prevalence of around 15-20% [1,3,4,6,[25][26][27]. Besides another molecular subtype as HER2posses ER-negative/PR-negative/HER2-positive characteristics with prevalence of 5-15%.…”

Section: Dna Repair Response and Breast Carcinoma Phenotypesmentioning

confidence: 99%

“…The clinical behavioral changes of the breast carcinoma cell types arise from the change in their genetic aberrations, epigenetic modifications and transcriptional regulation [1][2][3][4][5][6]. In growing evidences, breast carcinoma and other types of cancer are linked with the swinging balance between DNA damage build up and DNA repair failure.…”

Section: Introductionmentioning

confidence: 99%

“…In growing evidences, breast carcinoma and other types of cancer are linked with the swinging balance between DNA damage build up and DNA repair failure. The DNA repair umbrella in breast cancer involves several molecular players and their set basic signal transduction pathway [4][5][6]. These set of DNA damage response players are often found to act as tumor suppressor and hyperactive repair systems to confer survival advantage to breast cancer against genomic insults [7].…”

Section: Introductionmentioning

confidence: 99%

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Base Excision Repair Manipulation in Breast Carcinoma: A Prospective Avenue to Potentiate Genome Insulting Approach

Jain¹,

Yadav²,

Beig³

et al. 2017

Oncomedicine

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Treating breast carcinoma gets tedious due to its invasive molecular subtypes and their various molecular genotypes. Depending upon genotype and phenotype of breast tumor types, they manipulate their survival arms in the form of DNA repair protein player including base excision repair (BER) pathway. Currently, avenues to treat breast cancer ate genotoxic drugs inflicting inter and intra-strand cross links, base modification and changes in the genome combined with inhibitors of BER pathway. This review summarizes the updated information on the relevance of BER response in breast carcinoma phenotypes and their potential therapeutic interference in the last decade.

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Section: Dna Repair Response and Breast Carcinoma Phenotypesmentioning

confidence: 99%

Section: Dna Repair Response and Breast Carcinoma Phenotypesmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Base Excision Repair Manipulation in Breast Carcinoma: A Prospective Avenue to Potentiate Genome Insulting Approach

Jain¹,

Yadav²,

Beig³

et al. 2017

Oncomedicine

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“…New studies are concentrated on this gene. The PTEN gene is deactivated in some malignant tumours including breast cancer (Bogdanova et al, 2013;Yu et al, 2015;Zhang et al, 2015). The functional role of this gene is the induction of apoptosis in cancer cells.…”

Section: Introductionmentioning

confidence: 99%

Prognostic Role of PTEN Gene Expression and Length of Survival of Breast Cancer Patients in the North East of Iran

Golmohammadi

Rakhshani²,

Moslem³

et al. 2016

Asian Pacific Journal of Cancer Prevention

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PTEN protein is an important tumour suppressor factor detectable by immunohistochemistry. The goal of the present study was to investigate the prognostic role of PTEN gene expression focusing on length of survival in breast cancer patients. This descriptive-analytical study was conducted on 100 breast cancer cases referred to Sabzevar hospitals in the north east of Iran between 2010 and 2011, followed up to 2015. The PTEN gene expression of tumour tissue samples was determined using specific monoclonal antibodies. The data were analyzed using Chi-square test and Fisher's exact test. Patient length of survival was analyzed after 4 years of follow-up using the Cox regression model. The PTEN gene was expressed in 70 of 100 samples, while being found at a high level in all noncancerous samples. There was an inverse significant relationship between expression of PTEN and tumour stage and grade (p<0.001). In addition, expression of PTEN in invasive ductal tumours was less than in non-invasive tumours. There was also an inverse significant relationship between the likelihood of death and PTEN gene expression (p<0.01). These findings indicate that lack of PTEN gene expression can be sign for a worse prognosis and poor survival in breast cancer.

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Genetic predisposition to breast cancer: The next chapters

Boyd

2014

Cancer

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The clustering of breast cancer at a higher-than-expected incidence in some families has been recognized in the medical literature since at least the mid-19th century. With the landmark discovery 23 years ago indicating that chromosome 17q21 appeared to harbor a gene (BRCA1) for inherited susceptibility to breast cancer in families with early-onset disease, 1 the era of identification of moderately to highly penetrant, autosomal dominant breast (and other) cancer susceptibility genes began. Following the cloning of BRCA1 2 and BRCA2 3 in rapid succession in the mid-1990s, widespread optimism fueled the field of cancer genetics toward an intensive search for additional genes with similar characteristics, eg, "BRCA3," under the logical premise that successful gene hunting would inevitably inform substantive opportunities for primary and secondary prevention of breast cancer, as well as perhaps ovarian cancer, because BRCA1 and BRCA2 are each associated with a significantly elevated risk of this malignancy as well. 4 By 1999, however, Easton offered the prescient conclusion that if breast cancer susceptibility genes with penetrances comparable to BRCA1 and BRCA2 existed, mutations in these genes must be very rare. 5 Such has proven to be the case, with more than 20 additional genes with rare frequency mutations associated with intermediate to high penetrance for breast cancer now identified. 6 Several of these genes are associated with previously recognized dominant cancer predisposition syndromes involving multiple tumor types, including Li-Fraumeni syndrome (TP53), Cowden disease (PTEN), Peutz-Jeghers syndrome (LKB1), and Lynch syndrome (MSH2, MLH1). Others were identified through an association with a recessive clinical syndrome, such as ataxia telangiectasia (ATM), Bloom's syndrome (BLM), any of several types of Fanconi anemia (RAD51C, BRIP1), or Nijmegen breakage syndrome (NBN); monoallelic mutations of these genes, however, confer susceptibility to breast (and sometimes other) cancer(s) in an autosomal dominant fashion.A large proportion of these genes function in the recognition and/or repair of one or another type of DNA damage, and essentially all are functionally classified as classical tumor suppressors. In addition, most of their associated protein products function as members of DNA repair complexes, an observation that has led to the identification of several breast cancer susceptibility genes with rare frequency mutations such as PALB2 ("partner and localizer of BRCA2"), originally characterized as encoding a nuclear binding partner of BRCA2, 7 and then as a member of a BRCA1-PALB2-BRCA2 complex, 8,9 enabling their respective roles in homologous recombinational DNA repair and thus tumor suppression. The original classification of PALB2 as a breast cancer susceptibility gene was based on data showing that 10 of 923 (1.08%) individuals with familial breast cancer, negative for mutations in BRCA1 or BRCA2, harbored monoallelic truncating mutations of PALB2, compared to none of 1084 controls, leading to ...

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Hereditary breast cancer: ever more pieces to the polygenic puzzle

Cited by 61 publications

References 153 publications

Base Excision Repair Manipulation in Breast Carcinoma: A Prospective Avenue to Potentiate Genome Insulting Approach

Base Excision Repair Manipulation in Breast Carcinoma: A Prospective Avenue to Potentiate Genome Insulting Approach

Prognostic Role of PTEN Gene Expression and Length of Survival of Breast Cancer Patients in the North East of Iran

Genetic predisposition to breast cancer: The next chapters

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