{"id":1090,"date":"2024-02-21T20:55:47","date_gmt":"2024-02-22T01:55:47","guid":{"rendered":"https:\/\/pressbooks.bccampus.ca\/pathophysiology\/?post_type=chapter&#038;p=1090"},"modified":"2026-01-03T16:16:38","modified_gmt":"2026-01-03T21:16:38","slug":"dna-mutations-and-cancer","status":"web-only","type":"chapter","link":"https:\/\/pressbooks.bccampus.ca\/pathophysiology\/chapter\/dna-mutations-and-cancer\/","title":{"raw":"DNA Mutations and Cancer","rendered":"DNA Mutations and Cancer"},"content":{"raw":"<h3><strong>What is Cancer?\u00a0 How do Cells become Cancerous?<\/strong><\/h3>\r\n<strong>Cancer<\/strong> is characterized by the accumulation of cells due to excessive rates of cell cycling and\/or lack of apoptosis.\u00a0 Often cancerous cells no longer respond to normal cues to exit the cell cycle and unfortunately continue to repeatedly undergo cell division.\u00a0 Cancer can also occur when cells no longer respond to cues to become dormant and undergo apoptosis.\u00a0 As a result of impaired control of rates of cell cycling and\/or apoptosis, cells begin to accumulate forming a mass, which can spread, not only negatively affect neighbouring tissue but also disrupting distant locations throughout the body that cancerous cells migrate to.\r\n\r\n<strong>Impaired Control of Cell Cycling and Apoptosis\u00a0 \u00a0 \u00a0\u00a0<\/strong>\r\n\r\nYou may recall that the cell cycle consists of interphase (consisting of 3 phases:\u00a0 G1 phase, S-phase, and G2 phase), and mitosis (consisting of 4 stages: prophase, metaphase, anaphase, telophase), following by cytokinesis.\u00a0 In the process of 1 cell cycle, 1 cell grows, duplicates its organelles and DNA and then divides into 2 identical daughter cell.\u00a0 This entire process is tightly regulated by specific genes known as regulator genes.\u00a0 For example, there are regulatory genes that code for growth factors that stimulate cell cycling as well as growth-inhibiting factors that limit the rate of mitosis.\r\n\r\nRegulator genes code for growth factors and growth inhibiting factors, controlling the rate of mitosis and apoptosis (cell death).\u00a0 Mutations in regulatory genes can lead to excessive mitosis or a lack of apoptosis, contributing to cancer development.\r\n\r\nThere are several c<span style=\"font-size: 1em\">auses of DNA mutation, which include:<\/span>\r\n<ul>\r\n \t<li><span style=\"font-size: 1em\"> <strong>Viruses<\/strong> (e.g., Human Papilloma Virus, HPV is considered an oncovirus in that it can mutate DNA and has been linked to the development of cervical cancer), <\/span><\/li>\r\n \t<li><span style=\"font-size: 1em\"><strong>Radiation<\/strong> which includes:<\/span>\r\n<ul>\r\n \t<li><span style=\"font-size: 1em\"><strong>UV light<\/strong> is a risk factor for skin cancer as it can cause thymine dimers in DNA which leads to errors during DNA duplication, <\/span><\/li>\r\n \t<li><span style=\"font-size: 1em\"><strong>Gamma rays<\/strong> are associated with radioactive isotopes which have been found to cause DNA mutations), <\/span><\/li>\r\n<\/ul>\r\n<\/li>\r\n \t<li><span style=\"font-size: 1em\"><strong>Chemicals<\/strong> (e.g., asbestos, cigarette smoke), and <\/span><\/li>\r\n \t<li><span style=\"font-size: 1em\"><strong>Spontaneous errors<\/strong> during DNA synthesis.<\/span><\/li>\r\n \t<li style=\"font-weight: 400\"><strong>Rapid rates of mitosis<\/strong> during injury repair may increase the risk of errors occurring, potentially leading to cancer.<\/li>\r\n<\/ul>\r\nTerry Fox is a Canadian Hero who attempted to run across Canada in order to raise money in support of cancer research. Of course, we know he started in St. John's Newfoundland and was stopped short in Thunder Bay when the cancer had spread to his lungs and he could no longer run.\u00a0 Until that point, he had been running the distance of one marathon per day for 143 days.\u00a0 This is an astounding feat given that one of his legs had been amputated due to cancer of the bone and he was running with the use of a fairly rudimentary (and certainly not comfortable) prosthetic limb.\u00a0 Terry Fox had a cancer called osteosarcoma. Now, before he was diagnosed with cancer in that that bone, he'd actually been in a in a vehicle accident and had sustained damage to that same leg.\u00a0 \u00a0When he was later diagnosed with cancer in that same leg, he thought it was quite the coincidence. He started speculating this, maybe during the healing of his leg, cancer had formed.\u00a0 During healing when there were rapid rates of mitosis, it may have been that DNA errors were created in regulatory genes that caused cells to become cancerous.\u00a0 Terry's Marathon of Hope was stopped short and he died at age 22 as the cancer metastasized to his lungs.\r\n<h3><strong>Cancer is a Disease of the Genes?\u00a0<\/strong><\/h3>\r\nIt may seem odd that cancer is considered a genetic disease as it is <strong>rarely inherited<\/strong>, and more often is acquired through exposure to various mutagenic risk factors (some of which are mentioned above).\u00a0 Cancer is certainly a disease caused by <strong>gene mutations<\/strong>, specifically in regulatory genes required for cell cycling and\/or apoptosis as well as for ensuring proper and error-free DNA duplication.\u00a0 To date over 290 different gene mutations have been linked to cancer.\r\n<h3><strong>What is the difference between a genetic disease, an inherited disease and a congenital disease?<\/strong><\/h3>\r\nAlthough some cancers are <strong>inherited<\/strong> (e.g., retinoblastoma), most inherited diseases are not cancerous.\u00a0 For example, Cystic Fibrosis and Huntington's Disease both occur when DNA mutations are inherited.\u00a0 In both of these cases the DNA mutations occur in genes that are involved other cellular processes that do cause problems, but do not result in cancer.\r\n\r\nSide note:\u00a0 Not all <strong>congenital diseases<\/strong> are inherited or genetic.\u00a0 Congenital is a term that translates to \"born with\".\u00a0 For example, cerebral palsy is a congenital disease, though it is not genetic and is not inherited.\u00a0 Cerebral palsy is thought to occur when a brain lesion takes place either before or shortly after birth.","rendered":"<h3><strong>What is Cancer?\u00a0 How do Cells become Cancerous?<\/strong><\/h3>\n<p><strong>Cancer<\/strong> is characterized by the accumulation of cells due to excessive rates of cell cycling and\/or lack of apoptosis.\u00a0 Often cancerous cells no longer respond to normal cues to exit the cell cycle and unfortunately continue to repeatedly undergo cell division.\u00a0 Cancer can also occur when cells no longer respond to cues to become dormant and undergo apoptosis.\u00a0 As a result of impaired control of rates of cell cycling and\/or apoptosis, cells begin to accumulate forming a mass, which can spread, not only negatively affect neighbouring tissue but also disrupting distant locations throughout the body that cancerous cells migrate to.<\/p>\n<p><strong>Impaired Control of Cell Cycling and Apoptosis\u00a0 \u00a0 \u00a0\u00a0<\/strong><\/p>\n<p>You may recall that the cell cycle consists of interphase (consisting of 3 phases:\u00a0 G1 phase, S-phase, and G2 phase), and mitosis (consisting of 4 stages: prophase, metaphase, anaphase, telophase), following by cytokinesis.\u00a0 In the process of 1 cell cycle, 1 cell grows, duplicates its organelles and DNA and then divides into 2 identical daughter cell.\u00a0 This entire process is tightly regulated by specific genes known as regulator genes.\u00a0 For example, there are regulatory genes that code for growth factors that stimulate cell cycling as well as growth-inhibiting factors that limit the rate of mitosis.<\/p>\n<p>Regulator genes code for growth factors and growth inhibiting factors, controlling the rate of mitosis and apoptosis (cell death).\u00a0 Mutations in regulatory genes can lead to excessive mitosis or a lack of apoptosis, contributing to cancer development.<\/p>\n<p>There are several c<span style=\"font-size: 1em\">auses of DNA mutation, which include:<\/span><\/p>\n<ul>\n<li><span style=\"font-size: 1em\"> <strong>Viruses<\/strong> (e.g., Human Papilloma Virus, HPV is considered an oncovirus in that it can mutate DNA and has been linked to the development of cervical cancer), <\/span><\/li>\n<li><span style=\"font-size: 1em\"><strong>Radiation<\/strong> which includes:<\/span>\n<ul>\n<li><span style=\"font-size: 1em\"><strong>UV light<\/strong> is a risk factor for skin cancer as it can cause thymine dimers in DNA which leads to errors during DNA duplication, <\/span><\/li>\n<li><span style=\"font-size: 1em\"><strong>Gamma rays<\/strong> are associated with radioactive isotopes which have been found to cause DNA mutations), <\/span><\/li>\n<\/ul>\n<\/li>\n<li><span style=\"font-size: 1em\"><strong>Chemicals<\/strong> (e.g., asbestos, cigarette smoke), and <\/span><\/li>\n<li><span style=\"font-size: 1em\"><strong>Spontaneous errors<\/strong> during DNA synthesis.<\/span><\/li>\n<li style=\"font-weight: 400\"><strong>Rapid rates of mitosis<\/strong> during injury repair may increase the risk of errors occurring, potentially leading to cancer.<\/li>\n<\/ul>\n<p>Terry Fox is a Canadian Hero who attempted to run across Canada in order to raise money in support of cancer research. Of course, we know he started in St. John&#8217;s Newfoundland and was stopped short in Thunder Bay when the cancer had spread to his lungs and he could no longer run.\u00a0 Until that point, he had been running the distance of one marathon per day for 143 days.\u00a0 This is an astounding feat given that one of his legs had been amputated due to cancer of the bone and he was running with the use of a fairly rudimentary (and certainly not comfortable) prosthetic limb.\u00a0 Terry Fox had a cancer called osteosarcoma. Now, before he was diagnosed with cancer in that that bone, he&#8217;d actually been in a in a vehicle accident and had sustained damage to that same leg.\u00a0 \u00a0When he was later diagnosed with cancer in that same leg, he thought it was quite the coincidence. He started speculating this, maybe during the healing of his leg, cancer had formed.\u00a0 During healing when there were rapid rates of mitosis, it may have been that DNA errors were created in regulatory genes that caused cells to become cancerous.\u00a0 Terry&#8217;s Marathon of Hope was stopped short and he died at age 22 as the cancer metastasized to his lungs.<\/p>\n<h3><strong>Cancer is a Disease of the Genes?\u00a0<\/strong><\/h3>\n<p>It may seem odd that cancer is considered a genetic disease as it is <strong>rarely inherited<\/strong>, and more often is acquired through exposure to various mutagenic risk factors (some of which are mentioned above).\u00a0 Cancer is certainly a disease caused by <strong>gene mutations<\/strong>, specifically in regulatory genes required for cell cycling and\/or apoptosis as well as for ensuring proper and error-free DNA duplication.\u00a0 To date over 290 different gene mutations have been linked to cancer.<\/p>\n<h3><strong>What is the difference between a genetic disease, an inherited disease and a congenital disease?<\/strong><\/h3>\n<p>Although some cancers are <strong>inherited<\/strong> (e.g., retinoblastoma), most inherited diseases are not cancerous.\u00a0 For example, Cystic Fibrosis and Huntington&#8217;s Disease both occur when DNA mutations are inherited.\u00a0 In both of these cases the DNA mutations occur in genes that are involved other cellular processes that do cause problems, but do not result in cancer.<\/p>\n<p>Side note:\u00a0 Not all <strong>congenital diseases<\/strong> are inherited or genetic.\u00a0 Congenital is a term that translates to &#8220;born with&#8221;.\u00a0 For example, cerebral palsy is a congenital disease, though it is not genetic and is not inherited.\u00a0 Cerebral palsy is thought to occur when a brain lesion takes place either before or shortly after birth.<\/p>\n","protected":false},"author":1370,"menu_order":5,"template":"","meta":{"pb_show_title":"on","pb_short_title":"","pb_subtitle":"Pictures coming soon!","pb_authors":["zoe-soon"],"pb_section_license":"cc-by-nc-sa"},"chapter-type":[],"contributor":[60],"license":[57],"class_list":["post-1090","chapter","type-chapter","status-web-only","hentry","contributor-zoe-soon","license-cc-by-nc-sa"],"part":35,"_links":{"self":[{"href":"https:\/\/pressbooks.bccampus.ca\/pathophysiology\/wp-json\/pressbooks\/v2\/chapters\/1090","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/pressbooks.bccampus.ca\/pathophysiology\/wp-json\/pressbooks\/v2\/chapters"}],"about":[{"href":"https:\/\/pressbooks.bccampus.ca\/pathophysiology\/wp-json\/wp\/v2\/types\/chapter"}],"author":[{"embeddable":true,"href":"https:\/\/pressbooks.bccampus.ca\/pathophysiology\/wp-json\/wp\/v2\/users\/1370"}],"version-history":[{"count":8,"href":"https:\/\/pressbooks.bccampus.ca\/pathophysiology\/wp-json\/pressbooks\/v2\/chapters\/1090\/revisions"}],"predecessor-version":[{"id":4551,"href":"https:\/\/pressbooks.bccampus.ca\/pathophysiology\/wp-json\/pressbooks\/v2\/chapters\/1090\/revisions\/4551"}],"part":[{"href":"https:\/\/pressbooks.bccampus.ca\/pathophysiology\/wp-json\/pressbooks\/v2\/parts\/35"}],"metadata":[{"href":"https:\/\/pressbooks.bccampus.ca\/pathophysiology\/wp-json\/pressbooks\/v2\/chapters\/1090\/metadata\/"}],"wp:attachment":[{"href":"https:\/\/pressbooks.bccampus.ca\/pathophysiology\/wp-json\/wp\/v2\/media?parent=1090"}],"wp:term":[{"taxonomy":"chapter-type","embeddable":true,"href":"https:\/\/pressbooks.bccampus.ca\/pathophysiology\/wp-json\/pressbooks\/v2\/chapter-type?post=1090"},{"taxonomy":"contributor","embeddable":true,"href":"https:\/\/pressbooks.bccampus.ca\/pathophysiology\/wp-json\/wp\/v2\/contributor?post=1090"},{"taxonomy":"license","embeddable":true,"href":"https:\/\/pressbooks.bccampus.ca\/pathophysiology\/wp-json\/wp\/v2\/license?post=1090"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}