scholarly journals The Unique Biology behind the Early Onset of Breast Cancer

Genes ◽  
2021 ◽  
Vol 12 (3) ◽  
pp. 372
Author(s):  
Alaa Siddig ◽  
Tengku Ahmad Damitri Al-Astani Tengku Din ◽  
Siti Norasikin Mohd Nafi ◽  
Maya Mazuwin Yahya ◽  
Sarina Sulong ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Young Women ◽  
Early Onset ◽  
Histological Grade ◽  
Copy Number Variants ◽  
Nucleotide Polymorphisms ◽  
Poor Overall Survival ◽  
Unique Biology ◽  
Estrogen Receptor Positive ◽  
Sporadic Cases

Breast cancer commonly affects women of older age; however, in developing countries, up to 20% of breast cancer cases present in young women (younger than 40 years as defined by oncology literature). Breast cancer in young women is often defined to be aggressive in nature, usually of high histological grade at the time of diagnosis and negative for endocrine receptors with poor overall survival rate. Several researchers have attributed this aggressive nature to a hidden unique biology. However, findings in this aspect remain controversial. Thus, in this article, we aimed to review published work addressing somatic mutations, chromosome copy number variants, single nucleotide polymorphisms, differential gene expression, microRNAs and gene methylation profile of early-onset breast cancer, as well as its altered pathways resulting from those aberrations. Distinct biology behind early-onset of breast cancer was clear among estrogen receptor-positive and sporadic cases. However, further research is needed to determine and validate specific novel markers, which may help in customizing therapy for this group of patients.

scholarly journals Attempted replication of SNPs in RANKL and OPG with musculoskeletal adverse events during aromatase inhibitor treatment for breast cancer

2018 ◽  
Vol 50 (2) ◽  
pp. 98-99 ◽  
Author(s):  
Jacqueline M. Dempsey ◽  
Jingyue Xi ◽  
N. Lynn Henry ◽  
James M. Rae ◽  
Daniel L. Hertz
Keyword(s):  
Breast Cancer ◽  
Adverse Events ◽  
Aromatase Inhibitor ◽  
Treatment Discontinuation ◽  
Nucleotide Polymorphisms ◽  
Drug Induced ◽  
Estrogen Receptor Positive ◽  
Aromatase Inhibitor Treatment ◽  
Primary Hypothesis ◽  
Secondary Phenotypes

Aromatase inhibitor (AI) therapy is highly efficacious in the treatment of estrogen receptor-positive breast cancer; however, in a subset of patients AI use is discontinued due to drug-induced musculoskeletal adverse events (MS-AE). Several studies have investigated the role of germline single nucleotide polymorphisms (SNPs) on patients’ risk of MS-AEs; however, no associations have yet to be validated for translation into clinical practice. This study attempted to replicate SNPs in RANKL ( rs7984870 ) and OPG ( rs2073618 ) on the risk of AI-induced MS-AEs and screen for secondary associations with MS-AE-related treatment discontinuation and serum and urine markers of bone health. Previously reported associations were not replicated with our primary hypothesis, change in MS-AE from baseline to 3 mo; however, patients homozygous for the G allele of rs7984870 in RANKL had lower risk of MS-AE-associated treatment discontinuation in analyses of secondary phenotypes without statistical correction.

scholarly journals Guideline Conformity Treatment in Young Women with Early-Onset Breast Cancer in Germany

Breast Care ◽  
2014 ◽  
Vol 9 (5) ◽  
pp. 1-1
Author(s):  
Telja Pursche ◽  
Marianne Hedderich ◽  
Alessa Heinrichs ◽  
Kristin Baumann ◽  
Constanze Banz-Jansen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Young Women ◽  
Early Onset ◽  
Early Onset Breast Cancer

scholarly journals Complex polymorphisms in endocytosis genes suggest alpha-cyclodextrin as a treatment for breast cancer

2017 ◽  
Author(s):  
Knut M. Wittkowski ◽  
Christina Dadurian ◽  
Martin P. Seybold ◽  
Han Sang Kim ◽  
Ayuko Hoshino ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Animal Studies ◽  
Association Studies ◽  
Treatment Options ◽  
Cell Cycle Control ◽  
Genome Wide Association Studies ◽  
Nucleotide Polymorphisms ◽  
Genome Wide ◽  
Estrogen Receptor Positive

AbstractMost breast cancer deaths are caused by metastasis and treatment options beyond radiation and cytotoxic drugs, which have severe side effects, and hormonal treatments, which are or become ineffective for many patients, are urgently needed. This study reanalyzed existing data from three genome-wide association studies (GWAS) using a novel computational biostatistics approach (muGWAS), which had been validated in studies of 600–2000 subjects in epilepsy and autism. MuGWAS jointly analyzes several neighboring single nucleotide polymorphisms while incorporating knowledge about genetics of heritable diseases into the statistical method and about GWAS into the rules for determining adaptive genome-wide significance.Results from three independent GWAS of 1000–2000 subjects each, which were made available under the National Institute of Health’s “Up For A Challenge” (U4C) project, not only confirmed cell-cycle control and receptor/AKT signaling, but, for the first time in breast cancer GWAS, also consistently identified many genes involved in endo-/exocytosis (EEC), most of which had already been observed in functional and expression studies of breast cancer. In particular, the findings include genes that translocate (ATP8A1, ATP8B1, ANO4, ABCA1) and metabolize (AGPAT3, AGPAT4, DGKQ, LPPR1) phospholipids entering the phosphatidylinositol cycle, which controls EEC. These novel findings suggest scavenging phospholipids via alpha-cyclodextrins (αCD) as a novel intervention to control local spread of cancer, packaging of exosomes (which prepare distant microenvironment for organ-specific metastases), and endocytosis of β1 integrins (which are required for spread of metastatic phenotype and mesenchymal migration of tumor cells).Beta-cyclodextrins (βCD) have already been shown to be effective inin vitroand animal studies of breast cancer, but exhibits cholesterol-related ototoxicity. The smaller αCDs also scavenges phospholipids, but cannot fit cholesterol. Anin-vitrostudy presented here confirms hydroxypropyl (HP)-αCD to be twice as effective as HPβCD against migration of human cells of both receptor negative and estrogen-receptor positive breast cancer.If the previous successful animal studies with βCDs are replicated with the safer and more effective αCDs, clinical trials of adjuvant treatment with αCDs are warranted. Ultimately, all breast cancer are expected to benefit from treatment with HPαCD, but women with triplenegative breast cancer (TNBC) will benefit most, because they have fewer treatment options and their cancer advances more aggressively.

Response to neoadjuvant chemotherapy and the 21-gene breast recurrence score in young women with estrogen receptor-positive early breast cancer.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 514-514
Author(s):  
Tal Sella ◽  
Shari I. Gelber ◽  
Philip Daniel Poorvu ◽  
Hee Jeong Kim ◽  
Yaileen D Guzman Arocho ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Estrogen Receptor ◽  
Neoadjuvant Chemotherapy ◽  
Young Women ◽  
Recurrence Score ◽  
High Grade ◽  
Gene Assay ◽  
Estrogen Receptor Positive ◽  
Breast Recurrence ◽  
Response To Neoadjuvant Chemotherapy

514 Background: The 21- gene Breast Recurrence Score predicts benefit from adjuvant chemotherapy in estrogen receptor positive (ER+), HER-2 negative (-) breast cancer (BC). We aimed to examine whether the 21-gene assay predicts response to neoadjuvant chemotherapy (NAC). Methods: We identified patients with stage I-III ER+/HER2− BC treated with NAC from the Young Women's Breast Cancer Study, a prospective cohort of women diagnosed with BC at age ≤ 40 years. The 21-gene assay was performed on tumor specimens removed prior to NAC either as part of clinical care or retrospectively for research. Pathologic complete response (pCR) was defined as no residual invasive tumor (ypT0/is ypN0). The relationship between Recurrence Score result (RS) and pCR was evaluated using logistic regression modeling. Results: 76 women in the cohort had undergone NAC for ER+, HER2- BC and were eligible for this analysis: 5 had undergone clinical 21-gene assay testing, 71 had banked specimens retrospectively tested. Median age at diagnosis was 36.7 (24.3-40). Most tumors were of ductal histology (78%), high grade (51%), progesterone receptor (PgR) positive (86%), ≥T2 (88%), clinically node positive (74%), and anthracycline and taxane containing protocols were administered in 86% of cases. RS ranged between 5-75 with 50% > 25 and only 4 < 11. Mean RS was significantly higher among tumors achieving pCR vs. non-pCR response (51.9 vs. 26.6, pwilcoxon= 0.0005). pCR rate in patients with RS > 25 was 21% (8/38) vs. 5% in patients with RS < 25 (2/38), with both pCRs in the <25 group in patients with RS 21-25. In univariable analysis, PgR negativity (odds ratio (OR) 5.62, 95% confidence interval (CI) 1.27-24.89, p = 0.02), high grade (OR 9.03, 95%CI 1.07-76.32, p = 0.04) and higher RS as a continuous variable (OR 1.08, 95%CI 1.04-1.13, p = 0.0003) were associated with a greater likelihood of pCR. In multivariable analysis only RS remained significantly associated with pCR (OR: 1.07, 95%CI 1.01-1.12, p = 0.01): a 7% increase in the odds of pCR for every 1-point increase in RS. Conclusions: In young women with ER+, HER2- BC who received NAC, higher pretreatment RS was associated with an increased likelihood of pCR. Genomic expression profiling assays may have a role in decision-making in young women in need of neoadjuvant therapy. For women with low likelihood of benefiting from NAC, alternative approaches are clearly warranted. Given the demonstrated efficacy of neoadjuvant endocrine therapy in post-menopausal women, further evaluation in young women should be pursued.

Non-BRCA Early-Onset Breast Cancer in Young Women

Radiographics ◽  
2022 ◽  
Vol 42 (1) ◽  
pp. 5-22
Author(s):  
Yiming Gao ◽  
Naziya Samreen ◽  
Samantha L. Heller
Keyword(s):  
Breast Cancer ◽  
Young Women ◽  
Early Onset ◽  
Early Onset Breast Cancer
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