scholarly journals Primary multiple BRCA associated breast cancer and ovarian cancer (clinical case)

2020 ◽  
pp. 248-257
Author(s):  
I. B. Kononenko ◽  
A. V. Snegovoy ◽  
Y. A. Bozhchenko ◽  
D. N. Kravchenko ◽  
Vladimir Yu. Selchuk ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Clinical Case ◽  
Brca2 Mutation ◽  
Cumulative Risk ◽  
Brca2 Gene ◽  
Left Breast ◽  
Luminal A ◽  
Uterine Tube ◽  
Luminal B

Introduction. The study of mutation in BRCA1/2 genes was first initiated in the USA and Europe, and later in Russia. Statistics indicate that women with the BRCA1/BRCA2 mutation have a higher risk of breast and/or ovarian cancer than the general population. According to different authors, the average cumulative risk among BRCA1 carriers is 65% (range 44–78%) for breast cancer and 39% (range 18–54%) for ovarian cancer. For mutation carriers in the BRCA2 gene, the risk for breast cancer is 45–49%, while the risk for RNA is 11–18%. However, in patients already diagnosed with breast cancer or ovarian cancer, the risk of a second tumor persists throughout life and may remain high even in old age. Treatment of BRCA-associated breast cancer and/or ovarian cancer is almost the same as treatment for sporadic cancer, and includes surgical, radiation, and drug anticancer therapy. However, there are some features that need to be considered in clinical practice. Clinical case. In this article we present the clinical experience of the treatment of a 32-year-old patient with BRCA1-associated primary multiple synchronous breast cancer and metachronous uterine tube cancer. In July 2015, the patient was diagnosed with synchronous cancer of both breast (Luminal A right breast cancer and Luminal B left breast cancer). As part of a treatment and with the patient’s consent, a bilateral adnexectomy was performed. In the histological examination of the operating material, the uterine tube cancer was diagnosed in situ. From 16.03.2016 to the present time the patient receives adjuvant endocrinotherapy without signs of disease progression. Conclusion. This clinical case study presents the importance of a combined approach to the treatment and prevention of BRCAassociated cancer.

scholarly journals Genetically associated breast cancer. Prevention and treatment

2019 ◽  
pp. 3-9
Author(s):  
А.Д. Зикиряходжаев ◽  
Э.К. Сарибекян ◽  
А.С. Сухотько ◽  
А.В. Трегубова
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Cumulative Risk ◽  
Brca2 Gene ◽  
Contralateral Breast ◽  
Malignant Neoplasms ◽  
Female Population ◽  
Increased Risk ◽  
Incidence And Mortality ◽  
Brca1 Brca2

Рак молочной железы (РМЖ) занимает первое место в структуре онкологической заболеваемости и смертности от злокачественных новообразований среди женского населения Российской Федерации. Согласно последним статистическим данным, отмечается неуклонный рост заболеваемости РМЖ, что требует более тщательного изучения возможных мер профилактики его развития. Одним из современных методов обследования при подозрении на РМЖ является выполнение генетического исследования на наличие мутаций, увеличивающих риски развития заболевания. Так, на сегодняшний день известно большое количество генов, ассоциированных с повышенным риском развития РМЖ, к таким генам относятся: BRCA1, BRCA2, CHEK2, TP53, STK-11 и многие другие. При выявлении той или иной мутации у пациентки повышаются риски развития РМЖ, а если заболевание уже реализовано, то риски развития рака контрлатеральной молочной железы. По данным литературы, кумулятивный риск развития РМЖ у носителей мутации в гене BRCA1 к 80 годам составляет 72%, при этом риск развития рака яичников составляет 44% и 40% риск развития рака контралатеральной молочной железы. Для носителей мутации в гене BRCA2 кумулятивный риск развития РМЖ составляет 69%, риск развития рака яичников составляет 17% и 26% риск развития рака контралатеральной молочной железы. Учитывая значительное повышение рисков развития РМЖ при носительстве мутации в том или ином гене, актуальным, на сегодняшний день, является вопрос о внедрении в широкую практику профилактических операций, которые позволяют значительно снизить риски развития РМЖ. В данном обзоре литературы представлены наиболее актуальные статьи, затрагивающие данную тематику. Breast cancer (BC) occupies the first place in the structure of cancer incidence and mortality from malignant neoplasms among the female population of the Russian Federation. According to the latest statistics, there has been a steady increase in the incidence of breast cancer, which requires a more thorough study of possible measures to prevent its development. One of the modern methods of examination for suspected breast cancer is to carry out a genetic study for mutations that increase the risk of developing breast cancer compared with a group of patients with sporadic breast cancer. So, today a large number of genes are known that are associated with an increased risk of developing breast cancer, these genes include: BRCA1, BRCA2, CHEK2, TP53, STK-11 etc. If one or another mutation is detected in a patient, the risks of developing breast cancer increase, and if the disease has already been realized, then the risks of developing cancer of the contralateral breast. Thus, the cumulative risk of developing breast cancer in carriers of mutations in the BRCA1 gene to 80 years old is 72%, while the risk of developing ovarian cancer is 44% and 40% the risk of developing cancer of the contralateral breast. For carriers of mutations in the BRCA2 gene, the cumulative risk of developing breast cancer is 69%, the risk of developing ovarian cancer is 17% and 26% is the risk of developing cancer of the contralateral breast. Given the significant increase in the risks of developing breast cancer with carriage of a mutation in a particular gene, today, the urgent issue is the introduction of preventive surgery into widespread practice, since it is the implementation of preventive mastectomy that can significantly reduce the risks of developing breast cancer. This literature review presents the most relevant articles affecting this topic.

scholarly journals Characteristics of breast cancer in BRCA1/BRCA2 mutation carriers and non-carriersfrom a genetic counseling unit in Croatia

2020 ◽  
Vol 48 (2-3) ◽  
pp. 54-60
Author(s):  
Snježana Ramić ◽  
◽  
Gabriela Alfier ◽  
Iva Kirac ◽  
Ivan Milas ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Brca2 Mutation ◽  
Significant Risk ◽  
Brca2 Gene ◽  
Cancer Risk Assessment ◽  
Luminal B ◽  
Mutation Carriers ◽  
Breast Cancer Risk Assessment ◽  
Brca1 Brca2

Breast cancer (BC) represents 25% of all malignancies in Croatian women, and in 18.8% of cases, it is diagnosed before the age of 50. Croatia launched BRCA testing of people at increased family risk. Hereditary BC is mainly caused by a pathogenic mutation in the BRCA1 or BRCA2 gene and is a significant risk factor for developing breast and ovarian cancer. The present study included 127 women diagnosed with BC, with a strong family history of BC and the known status of the germline mutations in the BRCA1/BRCA2 genes. The majority of women were BRCA1/2 mutation non-carriers, while 15.7% were BRCA1/2 mutation carriers, and 4% had a variant of unknown significance (VUS). BRCA1/2 mutation carriers were younger than non-carriers (median 38.5 years vs. 44 years) (P=.01) and had tumors of higher histological grade (P<.001). The intrinsic subtype of BC differs significantly depending on the type of mutation (P<.001). Triple-negative BC prevailed (87.5%) in BRCA1 mutation carriers, and 12.5% had a luminal B/HER2-negative BC. Four patients were BRCA2 mutation carriers, and two of them had luminal B/HER2-positive BC. Most BRCA1/2 non-carriers (69.2%) and all VUS-carriers have luminal B/HER2-negative BC. Our results show that BRCA1/2 mutation testing is essential for women with a family history burden. It is a piece of valuable information in breast cancer risk assessment and contributes to early diagnosis.

Assessment of breast cancer risk in BRCA carriers with ovarian cancer: Evaluation of data from longitudinal observation.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e13062-e13062
Author(s):  
Tamar Safra ◽  
Barliz Waissengrin ◽  
Deanna Gerber ◽  
Rinat Bernstein Molho ◽  
Amnon Amit ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Family History ◽  
Prophylactic Mastectomy ◽  
Brca Mutation ◽  
Ashkenazi Jews ◽  
Luminal A ◽  
Luminal B ◽  
History Of

e13062 Background: To confirm data from older studies reporting reduced risks of breast cancer (BC) in BRCA mutated (BRCA+) ovarian cancer (OC) patients and to re-evaluate BC surveillance and/or prophylactic mastectomy in OC patients. Methods: Data on 430 BRCA+ mutation carriers diagnosed with OC between 2000 and 2017 in 6 medical centers (one in the USA and five in Israel) were analyzed. Data included demographics, breast surveillance type, family history, BRCA mutation types, timing of BC diagnosis (before or after OC diagnosis) and family history of cancer. Results: Median age at diagnosis of OC was 55.4 years (range, 31.3-90) and median follow-up was 4.6 years. Most patients were BRCA1 (66.6%), and 35.7% had 185delAG. Most patients (68.4%) were Ashkenazi Jews, 27.4% had a family history of BC and 16.5% were diagnosed with BC before OC. Five percent developed BC following OC diagnosis with a median time to BC diagnosis of 68 months (range, 11-210). Of those diagnosed with BC, 50% had triple-negative BC, 40% had luminal B ER+, PR-, Her2-neg and 10% had luminal A -ER+, PR+, her2-neg. There was a non-significant increase in BC after OC, and in BC prior to OC diagnosis; there was no correlation of BC with family history. No definite deaths from BC were recorded. Conclusions: The incidence of BC after OC diagnosis in the BRCA+ population at a median follow-up of 4.6 years is consistent with prior series. Prophylactic bilateral Surveillance measures should be re-evaluated in this population and may only be needed in long-term disease-free survivors and/or subpopulations to be identified. Clinical trial information: 07-146.

Contribution of BRCA1 and BRCA2 mutations to breast cancer in Tunisia

2009 ◽  
Vol 27 (15_suppl) ◽  
pp. e22191-e22191
Author(s):  
T. Wafa
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Hereditary Breast Cancer ◽  
Brca2 Mutation ◽  
Brca2 Gene ◽  
Brca1 Gene ◽  
Deleterious Mutations ◽  
Brca1 And Brca2 ◽  
Frameshift Mutations ◽  
History Of

e22191 Background: Hereditary breast cancer accounts for 3–8% of all breast cancers. It was recently estimated that a combination of BRCA1 and BRCA2 genes mutations is responsible for 30% of hereditary breast cancer cases. Methods: To investigate the prevalence of BRCA1 and BRCA2 gene mutations in breast cancer patients with affected relatives in Tunisia, 36 patients who had at least one first degree relative affected with breast and/or ovarian cancer were analysed. Thirty three patients are suggestive of BRCA1 mutation and 3 are suggestive of BRCA2 mutation. Results: Four mutations in BRCA1 gene were described among which, one novel splice site mutation (330 dupA) and 3 frameshift mutations including the 4160 delAG, the 2789 delG and the 5385 insC. Our study is the first to describe the 5385 insC mutation which was described only among Jewish Ashkenazi population. Two frameshift mutations (1537 del4 and 5909 insA) were screened in BRCA2 gene. Nineteen percent (7/36) of the familial cases were altered on BRCA1 or BRCA2 genes with deleterious mutations at heterozygous state and 55% (20/36) by mutation with uncertain value (UV) or by single nucleotide polymorphisms (SNPs). Conclusions: Almost all the cases mutated by deleterious mutations on BRCA1 gene reported a family history of breast and/or ovarian cancer in the index case or in their relatives. On the contrary, patients with an UV mutation or SNPs have no history of ovarian cancer in their corresponding families. Our data are the first to contribute to information on mutation spectrum of BRCA genes and offer a recommended screening mode for clinical genetic testing policy in Tunisia. No significant financial relationships to disclose.

scholarly journals Molecular Subtypes of Breast Cancer Patients According to St Gallen Classification

2020 ◽  
Vol 19 (1) ◽  
pp. 55-58
Author(s):  
Shafatujjahan ◽  
Ifatujjahan ◽  
Rajat Sanker Roy Biswas
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Molecular Subtypes ◽  
Hormonal Treatment ◽  
Left Breast ◽  
Breast Cancers ◽  
Breast Cancer Patients ◽  
Luminal A ◽  
Luminal B ◽  
Her 2

Introduction: Breast cancer is a common malignancy among female in Bangladesh.But its molecular subtypes are not evaluated due to lack of expert investigationsupport. So objectives of the present study are to evaluate the molecular subtypesof breast cancer patients according to St Gallen classification in our contest. Materials and methods: It is retrospective study done among histopathologicallyproved 40 breast cancer patients visiting Medical Oncology and Radiotherapydepartment of Chattogram Maa-O-Shishu Hospital. Molecular subtypes wasevaluated by immunohistochemistry according to St Gallen Classification. Results: In this study a total of 40 cases of invasive female breast cancers wereincluded. Age of the patients ranged from 31-62 years, with a mean age of 41 ±13.5 years. ER expression was seen in 60% and PR in 55% of cases and Her-2/neupositivity in 16%. Majority (52.5%) of the tumors were located in the left breast. Thepercentage of ER but not PR positivity increased with age, though this differencewas not statistically significant. Majority of the cases were diagnosed at stage IIwith a percentage of 42.5%. Stage II tumors showed more ER and PR positivity.Among all 57.9% of ER positive and 49.5% of PR positive tumors were present while72.2% of tumors were negative for Her-2/neu. The triple-negative breast tumorswere more commonly found at grade 2. Regarding luminal status 14(35%) wasLuminal A, 5(12.5%) was Luminal B, 9(22.5%) was TNBC and 12(30%) was HER 2positive. Conclusion: In this study luminal A was the commonest molecular subtypes. LuminalA subtypes tumors had a long term risk of distant matastatic disease which can bereduced by hormonal treatment. Chatt Maa Shi Hosp Med Coll J; Vol.19 (1); January 2020; Page 55-58

AGE FEATURES OF MOLECULAR-BIOLOGICAL SUBTYPES OF BREAST CANCER

2020 ◽  
Vol 17 (2) ◽  
pp. 187-192
Author(s):  
E.A. Novikova ◽  
◽  
O.V. Kostromina ◽  
D.V. Mikhailov ◽  
S.L. Leontiev ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Hormone Receptors ◽  
Age Groups ◽  
Luminal A ◽  
Ki 67 ◽  
Luminal B ◽  
Age Related ◽  
Age Features ◽  
Immunohistochemical Studies ◽  
Triple Negative Subtype

Aim. The aim of the study was to determine the presence of peculiarities of the age structure in patients with various surrogate molecular biological subtypes of breast cancer. Materials and research methods. This work analyzes the age-related characteristics of the occurrence of molecular biological subtypes in 499 patients with invasive breast cancer. All cases were divided into 5 molecular biological subtypes based on immunohistochemical studies of hormone receptors, Her2, Ki-67. The average age of the patients was 53.4±0.39 years, the predominant group was patients from 50 to 60 years (37.2% of the total). Research results. In patients under 40 years old, the triple negative subtype prevailed (44.8%). Luminal A subtype prevailed in the groups 51-60 years old (more than 41.4%) and over 60 years old (39.7%). Luminal B (Her2-) subtype was equally found in all age groups.

scholarly journals Recent Discoveries of Macromolecule- and Cell-Based Biomarkers and Therapeutic Implications in Breast Cancer

2021 ◽  
Vol 22 (2) ◽  
pp. 636
Author(s):  
Hsing-Ju Wu ◽  
Pei-Yi Chu
Keyword(s):  
Breast Cancer ◽  
Normal Breast ◽  
New Drugs ◽  
Cancer Type ◽  
Luminal A ◽  
Luminal B ◽  
Therapeutic Implications ◽  
Whole Cells ◽  
Diagnosis And Prognosis ◽  
Novel Biomarkers

Breast cancer is the most commonly diagnosed cancer type and the leading cause of cancer-related mortality in women worldwide. Breast cancer is fairly heterogeneous and reveals six molecular subtypes: luminal A, luminal B, HER2+, basal-like subtype (ER−, PR−, and HER2−), normal breast-like, and claudin-low. Breast cancer screening and early diagnosis play critical roles in improving therapeutic outcomes and prognosis. Mammography is currently the main commercially available detection method for breast cancer; however, it has numerous limitations. Therefore, reliable noninvasive diagnostic and prognostic biomarkers are required. Biomarkers used in cancer range from macromolecules, such as DNA, RNA, and proteins, to whole cells. Biomarkers for cancer risk, diagnosis, proliferation, metastasis, drug resistance, and prognosis have been identified in breast cancer. In addition, there is currently a greater demand for personalized or precise treatments; moreover, the identification of novel biomarkers to further the development of new drugs is urgently needed. In this review, we summarize and focus on the recent discoveries of promising macromolecules and cell-based biomarkers for the diagnosis and prognosis of breast cancer and provide implications for therapeutic strategies.

scholarly journals Inflammatory Breast Cancer: Clinical Characteristics and Influence of Molecular Subtypes on Treatment Response

2021 ◽  
Vol 107 (1_suppl) ◽  
pp. 12-12
Author(s):  
D Aissaoui ◽  
M Bohli ◽  
R Ben Amor ◽  
J Yahyaoui ◽  
A Hamdoun ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Treatment Response ◽  
Inflammatory Breast Cancer ◽  
Hormone Receptor ◽  
Triple Negative ◽  
Molecular Subtypes ◽  
Luminal A ◽  
Her2 Positive ◽  
Luminal B ◽  
Significant Difference

Introduction: Inflammatory Breast Cancer (IBC) is a rare and very aggressive breast cancer with poor prognosis. The prevalence is different from a country to another. In Tunisia, it is about 5 to 7% of breast cancer. The aim of this study is to describe the epidemiological and histopathological features of patients with inflammatory breast cancer and to evaluate the treatment response according to the molecular subtypes. Methods: This retrospective review identified 31 patients with no metastatic IBC treated in our radiotherapy department between December 2019 and November 2020. IBC was confirmed using the clinical criteria. Baseline clinic-pathological and treatment information was retrieved from medical records. Statistical analysis was performed with IBM SPSS V.20. Results: Median age was 51.3 years [27-68]. 48% of tumors were grade 3. The average tumor size was 36mm [10-90]. The histological type was ductal carcinoma in 97%. Vascular invasion was noted in 24 patients (77%). Thirty patients were classified as stage IIIB and one patient was IIIC. 74% were hormone receptor positive and 45% were HER2 positive. Luminal B was the predominant subtype (52%) followed by Her2 positive (32%), Luminal A (23%), and triple negative (3%) All patients had chemotherapy: neoadjuvant for 26 patients (84%) and adjuvant for 5 patients (16%). Nine patients (29%) had tumor pathological complete response (pCR). Partial response was observed in 18 patients (58%). Lymph node pCR was noted in 16% of cases (n=5). Endocrine therapy and trastuzumab were given to 76% and 45% of patients, respectively. The influence of the molecular subtype was not statistically significant on the response to neoadjuvant treatment. The highest rate of pCR were 43% for Her2positive, then 27%, 21% and 9% for Luminal B, Luminal A and Triple negative, respectively (p=0.2). Conclusion: Our study showed a high percentage of hormone receptor and Her2+ (74% and 45% respectively) in IBC. Luminal B was the most frequent subtype. Anthracycline-based chemotherapy and trastuzumab improved the pCR rate: 44% for Her2positive. Triple negative showed poorer pCR than other breast cancer subtype without a significant difference. A larger study is warranted to confirm our findings.

scholarly journals Prognostic Relevance of Neutrophil to Lymphocyte Ratio (NLR) in Luminal Breast Cancer: A Retrospective Analysis in the Neoadjuvant Setting

Cells ◽  
2021 ◽  
Vol 10 (7) ◽  
pp. 1685
Author(s):  
Antonino Grassadonia ◽  
Vincenzo Graziano ◽  
Laura Iezzi ◽  
Patrizia Vici ◽  
Maddalena Barba ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Disease Free Survival ◽  
Post Treatment ◽  
Neutrophil To Lymphocyte Ratio ◽  
Luminal Breast Cancer ◽  
Luminal A ◽  
Luminal B ◽  
Lymphocyte Ratio ◽  
Cell Counts ◽  
Pre Treatment

The neutrophil to lymphocyte ratio (NLR) is a promising predictive and prognostic factor in breast cancer. We investigated its ability to predict disease-free survival (DFS) and overall survival (OS) in patients with luminal A- or luminal B-HER2-negative breast cancer who received neoadjuvant chemotherapy (NACT). Pre-treatment complete blood cell counts from 168 consecutive patients with luminal breast cancer were evaluated to assess NLR. The study population was stratified into NLRlow or NLRhigh according to a cut-off value established by receiving operator curve (ROC) analysis. Data on additional pre- and post-treatment clinical-pathological characteristics were also collected. Kaplan–Meier curves, log-rank tests, and Cox proportional hazards models were used for statistical analyses. Patients with pre-treatment NLRlow showed a significantly shorter DFS (HR: 6.97, 95% CI: 1.65–10.55, p = 0.002) and OS (HR: 7.79, 95% CI: 1.25–15.07, p = 0.021) compared to those with NLRhigh. Non-ductal histology, luminal B subtype, and post-treatment Ki67 ≥ 14% were also associated with worse DFS (p = 0.016, p = 0.002, and p = 0.001, respectively). In a multivariate analysis, luminal B subtype, post-treatment Ki67 ≥ 14%, and NLRlow remained independent prognostic factors for DFS, while only post-treatment Ki67 ≥ 14% and NLRlow affected OS. The present study provides evidence that pre-treatment NLRlow helps identify women at higher risk of recurrence and death among patients affected by luminal breast cancer treated with NACT.

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