Podcast
Questions and Answers
What role do the BRCA1 and BRCA2 genes play in human cells?
What role do the BRCA1 and BRCA2 genes play in human cells?
Which gene mutation is closely associated with later stages of low-grade TNBC?
Which gene mutation is closely associated with later stages of low-grade TNBC?
Where is BRCA1 located on the human chromosome?
Where is BRCA1 located on the human chromosome?
What is indicated by the presence of TP53 and PI3K pathways in high-grade mutations of TNBC?
What is indicated by the presence of TP53 and PI3K pathways in high-grade mutations of TNBC?
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What type of therapy is mentioned as a treatment for the M or MSL sub-types in TNBC?
What type of therapy is mentioned as a treatment for the M or MSL sub-types in TNBC?
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Which of the following biomarkers are considered molecular indicators for TNBC growth?
Which of the following biomarkers are considered molecular indicators for TNBC growth?
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What is a strong biomarker for Triple Negative Breast Cancer (TNBC)?
What is a strong biomarker for Triple Negative Breast Cancer (TNBC)?
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What role does the cell cycle play in the context of TNBC?
What role does the cell cycle play in the context of TNBC?
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Which gene plays a role in preventing tumor growth leading to apoptosis or cell cycle continuation?
Which gene plays a role in preventing tumor growth leading to apoptosis or cell cycle continuation?
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Which histologic types are characterized by specific genetic alterations in low-grade TNBC?
Which histologic types are characterized by specific genetic alterations in low-grade TNBC?
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How many exons does BRCA2 consist of?
How many exons does BRCA2 consist of?
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What can occur if the TNBC biomarkers are non-functioning or malfunctioning?
What can occur if the TNBC biomarkers are non-functioning or malfunctioning?
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What is the primary function of anti-angiogenesis in TNBC treatment?
What is the primary function of anti-angiogenesis in TNBC treatment?
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How can TNBC tumor growth be identified?
How can TNBC tumor growth be identified?
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What location on chromosomes can mutations in BRCA1 and BRCA2 genes be identified?
What location on chromosomes can mutations in BRCA1 and BRCA2 genes be identified?
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Which of the following statements regarding treatment options for TNBC is true?
Which of the following statements regarding treatment options for TNBC is true?
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What defines Triple Negative Breast Cancer (TNBC)?
What defines Triple Negative Breast Cancer (TNBC)?
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According to the Irish Cancer Society, how many people are diagnosed with TNBC in Ireland each year?
According to the Irish Cancer Society, how many people are diagnosed with TNBC in Ireland each year?
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What does a high number of highlights in a draft indicate about the content?
What does a high number of highlights in a draft indicate about the content?
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What is the primary purpose of the assignment mentioned in the document?
What is the primary purpose of the assignment mentioned in the document?
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What should sections highlighted in light blue within the draft indicate?
What should sections highlighted in light blue within the draft indicate?
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What does the lack of information highlighted indicate regarding the draft?
What does the lack of information highlighted indicate regarding the draft?
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Which of the following is NOT mentioned as a marker for TNBC?
Which of the following is NOT mentioned as a marker for TNBC?
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What does the draft primarily consist of regarding its progress?
What does the draft primarily consist of regarding its progress?
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What is the primary benefit of TNBC gene analysis as indicated in the study?
What is the primary benefit of TNBC gene analysis as indicated in the study?
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What role do predictive biomarkers play in the treatment of TNBC?
What role do predictive biomarkers play in the treatment of TNBC?
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Which technology is emphasized for modern mutation detection in cancer?
Which technology is emphasized for modern mutation detection in cancer?
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What is the meaning of overexpression in a cancer context?
What is the meaning of overexpression in a cancer context?
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What aspect does the study highlight regarding Tamoxifen?
What aspect does the study highlight regarding Tamoxifen?
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What percentage of PIK3CA somatic mutations are classified as hot-spot mutations?
What percentage of PIK3CA somatic mutations are classified as hot-spot mutations?
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Which mutations are the most common single nucleotide changes identified in the PIK3CA gene?
Which mutations are the most common single nucleotide changes identified in the PIK3CA gene?
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What does the PIK3CA gene encode?
What does the PIK3CA gene encode?
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In which exons are the most common PIK3CA mutations located?
In which exons are the most common PIK3CA mutations located?
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What type of genetic engineering technique is mentioned as being used to investigate PI3K mutations?
What type of genetic engineering technique is mentioned as being used to investigate PI3K mutations?
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How is the expression of PI3K mutations represented in the research data?
How is the expression of PI3K mutations represented in the research data?
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What is noted as a characteristic of the PI3K protein in relation to its therapeutic potential?
What is noted as a characteristic of the PI3K protein in relation to its therapeutic potential?
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Where were the data about the PIK3CA mutations sourced from?
Where were the data about the PIK3CA mutations sourced from?
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Which gene is identified as a significant biomarker in the treatment of Triple Negative Breast Cancer?
Which gene is identified as a significant biomarker in the treatment of Triple Negative Breast Cancer?
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What occurs in healthy cells when DNA is damaged in relation to the TP53 protein?
What occurs in healthy cells when DNA is damaged in relation to the TP53 protein?
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What is the relative importance percentage of hot mutations of PI3KCA in the RNAi model as mentioned?
What is the relative importance percentage of hot mutations of PI3KCA in the RNAi model as mentioned?
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What does the TP53 gene primarily regulate in cells?
What does the TP53 gene primarily regulate in cells?
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What is the outcome when TP53 is non-functional?
What is the outcome when TP53 is non-functional?
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In the context of CRISPR and RNAi models, which measurement was used to visualize the data?
In the context of CRISPR and RNAi models, which measurement was used to visualize the data?
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What percentage of alteration is noted for the TP53 gene in Triple Negative Breast Cancer cases?
What percentage of alteration is noted for the TP53 gene in Triple Negative Breast Cancer cases?
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What kind of data was represented in the heatmap regarding immuno-regulatory genes?
What kind of data was represented in the heatmap regarding immuno-regulatory genes?
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Study Notes
Triple Negative Breast Cancer
- Breast cancer is a common cancer
- Triple Negative Breast Cancer (TNBC) is a type of breast cancer that lacks estrogen receptor (ER), progesterone receptor (PR) and HER2 protein production
- TNBC accounts for more than 250 diagnoses annually in Ireland
- TNBC diagnosis is based on the absence of ER, PR, and HER2
- TNBC is more aggressive than other breast cancers
- Important genes for TNBC include PI3K, BRCA, and TP53, which have mutations potentially impacting treatment
Histopathology
- Histopathology studies the microscopic appearance of tissues
- TNBC shows different levels of lymphocyte infiltration, ranging from mild to intense, correlating with aggressiveness
- Figure 1 (and Figure related to it) illustrates different levels (Mild, Moderate, and Intense).
- The microscopic appearance varies greatly between TNBC subtypes
TNBC Subtypes
- TNBC is not a single entity, but is classified into subtypes based on gene expression patterns.
- Key subtypes: Basal-like 1, Basal-like 2, Luminal androgen receptor (LAR), Mesenchymal, Mesenchymal stem cell-like (MSL). Immunomodulatory
- Figure 4 illustrates the subtypes (with a table on it) and histopathology
Molecular Pathways and Biomarkers
- Key genes like PI3K, BRCA1, BRCA2, and TP53 are involved in DNA damage repair and cell cycle regulation
- Mutations in these genes can accelerate tumour growth and metastasis
- Figure 6 illustrates the classification and treatment options
- Figure 8 illustrates the DNA repair pathways
- Key mutations are associated with Figure 8; including TP53 (6%), BRCA1, (11.7%), BRCA2 (10.2%) and PI3K (12.9%)
- Figures 9 and 10 show gene and exon mutations and their prevalence
Testing and Detection
- Testing methods like next-generation sequencing are used to identify genetic mutations in TNBC
- Illumina sequencing and related methods are crucial for identifying specific genetic mutations leading to a more accurate diagnosis.
- The role of molecular biomarkers in stratifying patients for treatment and predicting outcome.
- Figure 12 explores predictive modeling for treatment response based on mutation profiles
Treatment
- Treatment options for TNBC include chemotherapy, radiation, and surgery.
- Treatment options are explored in Figure 15
- Drug therapies like Tamoxifen along with their mechanisms and implications are referenced throughout the document
- Figure X (related) further explores treatment pathways
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Description
This quiz provides an overview of Triple Negative Breast Cancer (TNBC), including its classification, histopathology, and aggressive nature. Participants will learn about the genetic factors influencing TNBC and its varying subtypes, enhancing their understanding of this complex disease.
