Early onset breast cancer: differences in risk factors, tumor phenotype, and genotype between North African and South European women

Corsini, Carole; Henouda, Sarra; Nejima, Dalel Ben; Bertet, Héléna; Toledano, Alain; Boussen, Hamouda; Habib, Faouzi; Gaballah, Ahmed; Ghazaly, Hesham El; Bourgier, C.; Coupier, Isabelle; Galibert, Virginie; Baudry, Karen; Vilquin, Paul; Biquard, Louise; Rey, Jean-Marc; Belkacémi, Yazid; Khayat, David; Picot, Marie‐Christine; Bensalem, A.; Pujol, Pascal

doi:10.1007/s10549-017-4434-y

Cited by 7 publications

(5 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…When differentiating sporadic BC from familial cases, the history of breast and/or ovarian cancer in firstor second-degree relatives should be taken into consideration. Moreover, within the family history of BC, the parameters like histological type, grade, tumor size, lymph node involvement, metastatic spread, molecular classification, and genotype of BRCA1 and BRCA2 genes presence should be assessed [31].…”

Section: E/blood Tests (Tumor Markers)mentioning

confidence: 99%

Current approaches in the clinical management of pregnancy-associated breast cancer—pros and cons

et al. 2018

View full text Add to dashboard Cite

Malignancies are one of the leading causes of mortality in women during their reproductive life. Treatment of gynecological malignant tumors during pregnancy is possible but not simple, since it creates a conflict between care of the mother and the fetus. BC is the most prevalent malignancy diagnosed in pregnancy, ranking up to 21% of all pregnancy-related malignancies. Due to its stets increasing prevalence, aggressive cancer subtype, and severe ethical and psychological aspects linked to the disease, experts raise an alarm for an acute necessity to improve the overall management of the PABC-the issue which has strongly motivated our current paper. Comprehensive research data and clinical experience accumulated in recent years have advanced our understanding of the disease complexity. PABC treatment must be individualized with an emphasis on optimal care of the mother, while observing standard treatment protocols with regard to safety of the fetus. Treatment protocols should be elaborated based on the individualized patient profile, bearing in mind the acute danger to the mother, maximizing the therapy efficacy and minimizing harmful effects to the fetus. Complex consulting on treatment options, their impacts on pregnancy and potential teratogenic effects requires tight "doctor-patient" collaboration. Complications that may arise due to the treatment of breast cancer in pregnancy require a multiprofessional expertise including oncologists, neonatologists, perinatologists, obstetricians, teratologists, and toxicologists, and an extensive psychological support throughout the pregnancy and after giving birth. Thereby, specifically psychological aspects of PABC diagnosis and follow-up are frequently neglected, being not yet adequately explored in the entire disease management approach. Herewith, we update the status quo regarding the currently available diagnostic modalities, complex treatment algorithms, and novel clinical approaches which altogether argue for an urgent necessity of a paradigm shift moving away from reactive to predictive, preventive, and personalized medical approach in the overall management of PABC meeting the needs of young populations, persons at high risk, affected patients, and families as the society at large.

show abstract

Section: E/blood Tests (Tumor Markers)mentioning

confidence: 99%

Current approaches in the clinical management of pregnancy-associated breast cancer—pros and cons

et al. 2018

View full text Add to dashboard Cite

show abstract

“…However, the commonly used guidelines for testing were insufficient to detect all mutation carriers in the BC cohorts [4]. Indeed, a higher rate of both BRCA1 and BRCA2 mutations has been observed in affected patients from North Africa without family history (8.0% in North Africa versus 1.1% in France for BRCA1 mutations, P = 0.02; 7.2% in North Africa vs. 1.1% in France for BRCA2 mutations:, P<0.05) [5].…”

Section: Introductionmentioning

confidence: 99%

Whole exome sequencing reveals a combination of rare high and low penetrance variants that correlates with familial breast cancer relative risk

Rekaya¹,

Hamdi²,

Labidi³

et al. 2020

Preprint

Self Cite

View full text Add to dashboard Cite

Background: Genetic risk factors of breast cancer are very heterogeneous and complex. They vary according to the familial relative risk, the age of cancer diagnosis of the index case and the age of the affected relatives.Objectives: We aimed to investigate and identify simultaneously all rare pathogenic and common variants in unrelated BC cases with different relative risk ratios for breast cancer and evaluate the contribution of these variants in genetic susceptibility to breast cancer.Patients and Methods: All frequent mutations in BRCA genes previously identified in Tunisia have been excluded by Sanger sequencing in 42 women affected with high family risk having at least 3 cancer affected related individuals. Two unrelated cases having two different family histories (in terms of different numbers of affected first-degree relatives and young age onset) have been selected for whole exome sequencing. The first family is composed of three sisters F1.1, F1.2 and F1.3 affected at 46, 50, and 32 years old, respectively. The second has only two breast cancer cases, F2.2 and F2.4, affected at late age 61 and 70 years old, respectively, in addition to other 5 members affected by different kinds of cancer. Selected high risk variants were confirmed and segregation analysis was performed using Sanger sequencing. Results and discussion: For F1.1 case, we identified a pathogenic frame-shift loss of function variant in BRCA2 p.Val1283Lysfs. For F2.2 we identified a pathogenic rare variant in OGG1, p.Arg46Gln that co-segregates with a rare non sense variant in BRCA2 p.K3326X, only in the breast cancer affected cases. Moreover, F2.2 patient has 9 other common low penetrant variants in different loci known to represent independently minor, but cumulatively significant, increased risk for breast cancer.Conclusion: Family history and the young age at onset for patient F1.1 correlate with the presence of a rare high penetrant variant (p.Val1283Lysfs) in BRCA2 gene. However, the late age at onset and the less severe phenotype for patient F2.2 are probably the consequence of the presence of a pathogenic variant p.Arg46Gln in OGG1 gene that co-segregate with a low penetrant variant Lys3326X in BRCA2 only in breast cancer cases.

show abstract

“…The term triple-negative breast cancer (TNBC) is used to describe BC that lacks the expression of ER, PR, and HER2 [ 4 , 5 ]. TNBC accounts for approximately 15% of all BC and is most common in premenopausal women under the age of 40, women of color, and women of Hispanic and Indian descent [ 1 , 5 , 6 ]. TNBC is a malignant tumor with a poor prognosis, exhibiting frequent and significant distant metastases, including the spine, liver, lungs, and brain [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

“…Most carcinomas expressing both ER and progesterone receptors (PR) present with low malignant potential, whereas tumors that do not express both of these receptors in addition to HER2 are frequently aggressive in nature [1,[3][4][5] The term triple-negative breast cancer (TNBC) is used to describe BC that lacks the expression of ER, PR, and HER2 [4,5]. TNBC accounts for approximately 15% of all BC and is most common in premenopausal women under the age of 40, women of color, and women of Hispanic and Indian descent [1,5,6]. TNBC is a malignant tumor with a poor prognosis, exhibiting frequent and significant distant metastases, including the spine, liver, lungs, and brain [7].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

In Vitro and In Vivo Effects of Docetaxel and Dasatinib in Triple-Negative Breast Cancer: A Research Study

Passos,

Papadimitriou,

Katsouda

et al. 2023

Cureus

View full text Add to dashboard Cite

Introduction Triple-negative breast cancer (TNBC) comprises a heterogeneous group of tumors with a single trait in common: an evident aggressive nature with higher rates of relapse and lower overall survival in the metastatic context when compared to other subtypes of breast cancer. To date, not a single targeted therapy has been approved for the treatment of TNBC, and cytotoxic chemotherapy remains the standard treatment. In the present experimental study, we examine the effects of the chemotherapeutic docetaxel and the bcr/abl kinase inhibitor dasatinib on TNBC cell lines (in vitro) and on TNBC tumor xenograft mouse models (in vivo). Materials and methods TNBC cell lines were cultivated and treated with various concentrations of docetaxel and dasatinib (5 nM to 100 nM). Cell death and apoptosis were studied by flow cytometry. TNBC cell lines were then injected in BALB/c athymic nude mice to express the tumor in vivo. Four groups of mice were created (group A: control; group B: DOC; group C: DAS; group D: DOC + DAS) and treated, respectively, with the drugs and their combination. Tumors were obtained, maintained in a 10% formaldehyde solution, embedded in paraffin, and sent for further histological evaluation (hematoxylin-eosin staining and immune-histochemical analysis) to assess the tumor growth inhibition. Results The cytotoxic effects of docetaxel seem statistically important, with little effect on apoptosis. The effect of dasatinib in vitro and vivo is statistically important, in terms of apoptosis and tumor reduction, with little adverse effects. Conclusions TNBC is a difficult-to-treat oncologic condition, even in an experimental setting. Promising results concerning the addition of targeted therapies (dasatinib) to the conventional cytotoxic ones (docetaxel) have been shown, awaiting further evaluation.

show abstract

Early onset breast cancer: differences in risk factors, tumor phenotype, and genotype between North African and South European women

Cited by 7 publications

References 16 publications

Current approaches in the clinical management of pregnancy-associated breast cancer—pros and cons

Current approaches in the clinical management of pregnancy-associated breast cancer—pros and cons

Whole exome sequencing reveals a combination of rare high and low penetrance variants that correlates with familial breast cancer relative risk

In Vitro and In Vivo Effects of Docetaxel and Dasatinib in Triple-Negative Breast Cancer: A Research Study

Contact Info

Product

Resources

About