April 13, 2024

Infographic on the genetic basis of cancer

Cancer is inherently a genetic disease, and advances in our knowledge of the genetic basis of cancer can help guide early diagnosis and improve treatments to benefit patients.

Download this infographic to learn:

  • About the types of genes involved in cancer
  • How mutations can drive cancer development
  • Why cancers can be hereditary or sporadic

The basis of Cancer is inherently a genetic disease. In this infographic, we’ll explore the genetic basis of cancer, understanding how mutations in different types of genes can lead to the development of cancer, how these cancers can be sporadic or hereditary, and how this can guide diagnosis and treatment. Mutations can drive the development of cancerDevelopment of cancer Estimates suggest that between 1–10 mutations Unlike other diseases, on average, are needed (such as cystic fibrosis, to cause cancer, but this example), no gene can differ between the cancer that causes cancer. They type. Research suggests contributing to about 4 driver mutations than causing cancer. liver cancer or about 10 for colorectal cancer. healthy cells healthy cells malignant cells malignant cells 1st mutation 2nd mutation 3rd mutation Nth mutation These changes can happen randomly, caused by errors in the machinery that replicates our DNA as our cells divide. They can also be caused by environmental or lifestyle factors. Human papilloma virus (HPV) and cervical cancer Ultraviolet (UV) Tobacco smoke radiation and lung cancer Skin cancer Three main types of genes in cancer 11 22 33 Smoking and lung cancer Human papilloma virus (HPV) and cervical cancer Protro-oncogene Hyperactive/constitutively active oncogene Inactivated tumor suppressor gene Tumor suppressor gene Non-small cell lung cancer (30%) Pancreatic ductal adenocarcinomas (up to 95%) Colorectal cancer (40%) Ultraviolet radiation (UV) and skin cancer Three main types of genes are involved in the development of cancer – oncogenes, tumor suppressor genes 1 11 22 33 Smoking and lung cancer Human papilloma virus (HPV) and cervical cancer Protro-oncogene Hyperactive/constitutively active Oncogene Gene inactivated tumor suppressor Tumor suppressor gene Non-small cell lung cancer (30%) Pancreatic ductal adenocarcinomas (up to 95%) colorectal cancers (40%) Ultraviolet (UV) radiation and skin cancer Three main types of genes are involved in cancer development – ​​oncogenes, tumor suppressor genes and stability/repair genes. Oncogenes are mutated genes that become overactivated or continuously activated. Before the mutation, they are called proto-oncogenes and function as part of normal cellular processes such as growth and division – but the mutated oncogene can lead to uncontrolled proliferation and the development of cancer. Protro-oncogene Hyperactive/constitutively active oncogene KRAS is one of the most frequently mutated oncogenes – it is commonly found in: non-small cell lung colorectal cancer (40%) pancreatic ductal cancer (30%) adenocarcinomas (up to 95%) 2 The genes Tumor suppressors protect against the development of cancer, and mutations that impair their function/activity can lead to cancer. Tumor suppressor The inactivated tumor gene suppressor gene p53, the “guardian of the genome”, induces programmed cell death – apoptosis – in damaged cells to prevent them from becoming cancerous. About one in two cancers has loss-of-function mutations in p53. 3 Stability/repair genes work differently. Repair genes protect the genome against genetic changes, and stability genes help control larger portions of DNA – ensuring, for example, that chromosomes are tightly regulated during cell division. Together, stability and repair genes minimize genetic changes. Therefore, when they are inactivated, changes accumulate more quickly. A delicate balance Cells must maintain a delicate balance, and changes in proto-oncogenes and tumor suppressor genes can result in uncontrolled cell growth. Proto-oncogene Cancer cell oncogene of hyperactive normal cells Tumor suppressor gene Tumor suppressor gene Inactivated cancer cells Sporadic cancer cells Sporadic vs hereditary cancers Hereditary cancers Mutations in germ cells can be passed on to offspring and are copied to every cell in the body, predisposing them to cancer – these are “hereditary” cancers. For example: Although the cancer mutations in the tumor themselves cannot be passed on the BRCA1 and BRCA2 suppressor genes from parents to children, the most common causes of hereditary breast cancer (up to 10% of cancers) can be cancer. Mutations can render BRCA1/2 unable to be caused by inheritance to restrict uncontrolled cell growth, leading to genetic changes. This gives development to cancer. Women who carry BRCA1/2 mutant cancer development have a significantly increased risk of breast cancer, but additional and ovarian cancer, known as hereditary breast cancer mutations, are required for ovarian cancer syndrome (HBOC), and can make a cell cancerous. develop cancer at a much younger age. Risk of breast cancer in women (at 70-80 years)(80) 55-72% BRCA1 mutated 45-69% BRCA2 mutated 12% BRCA1/2 normal Mutations in somatic cells are not transmitted, but can lead to tumor formation – these are “sporadic” cancers. The mutation is acquired, not inherited, and is only found in tumor cells. Sporadic Cancer Sporadic Cancer Hereditary Cancer Hereditary Cancer Cancer Diagnosis No Cancer Diagnosis Advice on Diagnosis, Treatment, and Treatment As our knowledge of the genetic basis has grown, so has our ability to treat cancer. Genetic testing has paved the way for precision medicine approaches using next-generation sequencing (NGS) technologies such as whole-genome or whole-exome sequencing. For example: the BRAF V600E mutation is found in almost half of all melanomas. Normal BRAF signaling controls cell growth and proliferation, but the V600E mutation increases its activity and drives cancer development. The mutated BRAF protein can be targeted using a drug called vemurafenib, which inhibits BRAF and its oncogenic signaling. ras-gtpras-gtp braf v600ebraf v600e mek erk Cell proliferation/cancer development Vemurafenib Overall, advances in our knowledge of the genetic basis of cancer can help guide early diagnosis and improve treatments to benefit patients.

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