The TP53 gene provides instructions for making a protein called tumor protein p53 (or p53). This protein acts as a tumor suppressor, which means that it regulates cell division by keeping cells from growing and dividing (proliferating) too fast or in an uncontrolled way.
The p53 protein is located in the nucleus of cells throughout the body, where it attaches (binds) directly to DNA. When the DNA in a cell becomes damaged by agents such as toxic chemicals, radiation, or ultraviolet (UV) rays from sunlight, this protein plays a critical role in determining whether the DNA will be repaired or the damaged cell will self-destruct (undergo apoptosis). If the DNA can be repaired, p53 activates other genes to fix the damage. If the DNA cannot be repaired, this protein prevents the cell from dividing and signals it to undergo apoptosis. By stopping cells with mutated or damaged DNA from dividing, p53 helps prevent the development of tumors.
Because p53 is essential for regulating DNA repair and cell division, it has been nicknamed the \"guardian of the genome.\"
","date_published_by_ghr":"2023-05-04","conditions_list":[{"name":"Bladder Cancer","html_text":"Bladder cancer is a disease in which certain cells in the bladder become abnormal and multiply uncontrollably to form a tumor. The bladder is a muscular organ in the lower abdomen that stores urine until it can be removed (excreted) from the body.
Bladder cancer may cause blood in the urine, pain during urination, frequent urination, the feeling of needing to urinate without being able to, or lower back pain. Many of these signs and symptoms are nonspecific, which means they may occur in multiple disorders. People who have one or more of these nonspecific health problems often do not have bladder cancer, but have another condition such as an infection.
Bladder cancer develops when tumors form in the tissue that lines the bladder. There are several types of bladder cancer, categorized by the type of cell in the tissue that becomes cancerous. The most common type is transitional cell carcinoma (also known as urothelial carcinoma); others include squamous cell carcinoma and adenocarcinoma. If the tumor spreads u00a0(metastasizes) beyond the lining of the bladder into nearby tissues or organs, it is known as invasive bladder cancer.u00a0
","ghr_link":"https://medlineplus.gov/genetics/condition/bladder-cancer","db_key_list":[{"gtr":"C0699885"},{"icd_10_cm":"C67"},{"icd_10_cm":"C67.0"},{"icd_10_cm":"C67.1"},{"icd_10_cm":"C67.2"},{"icd_10_cm":"C67.3"},{"icd_10_cm":"C67.4"},{"icd_10_cm":"C67.5"},{"icd_10_cm":"C67.6"},{"icd_10_cm":"C67.7"},{"icd_10_cm":"C67.8"},{"icd_10_cm":"C67.9"},{"icd_10_cm":"D09.0"},{"mesh":"D001749"},{"omim":"109800"},{"snomed_ct":"126885006"},{"snomed_ct":"255108000"},{"snomed_ct":"399326009"}]},{"name":"Breast Cancer","html_text":"Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. Although breast cancer is much more common in women, this form of cancer can also develop in men. In both women and men, the most common form of breast cancer begins in cells lining the milk ducts (ductal cancer). In women, cancer can also develop in the glands that produce milk (lobular cancer). Most men have little or no lobular tissue, so lobular cancer in men is very rare.
In its early stages, breast cancer usually does not cause pain and may exhibit no noticeable symptoms. As the cancer progresses, signs and symptoms can include a lump or thickening in or near the breast; a change in the size or shape of the breast; nipple discharge, tenderness, or retraction (turning inward); and skin irritation, dimpling, redness, or scaliness. However, these changes can occur as part of many different conditions. Having one or more of these symptoms does not mean that a person definitely has breast cancer.
In some cases, cancerous cells can invade surrounding breast tissue. In these cases, the condition is known as invasive breast cancer. Sometimes, tumors spread to other parts of the body. If breast cancer spreads, cancerous cells most often appear in the bones, liver, lungs, or brain. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers.
A small percentage of all breast cancers cluster in families. These cancers are described as hereditary and are associated with inherited gene mutations. Hereditary breast cancers tend to develop earlier in life than noninherited (sporadic) cases, and new (primary) tumors are more likely to develop in both breasts.
","ghr_link":"https://medlineplus.gov/genetics/condition/breast-cancer","db_key_list":[{"gtr":"C0006142"},{"gtr":"C1861906"},{"gtr":"C3469522"},{"icd_10_cm":"C50.01"},{"icd_10_cm":"C50.011"},{"icd_10_cm":"C50.012"},{"icd_10_cm":"C50.019"},{"icd_10_cm":"C50.02"},{"icd_10_cm":"C50.021"},{"icd_10_cm":"C50.022"},{"icd_10_cm":"C50.029"},{"icd_10_cm":"C50.11"},{"icd_10_cm":"C50.111"},{"icd_10_cm":"C50.112"},{"icd_10_cm":"C50.119"},{"icd_10_cm":"C50.21"},{"icd_10_cm":"C50.211"},{"icd_10_cm":"C50.212"},{"icd_10_cm":"C50.219"},{"icd_10_cm":"C50.22"},{"icd_10_cm":"C50.221"},{"icd_10_cm":"C50.222"},{"icd_10_cm":"C50.229"},{"icd_10_cm":"C50.31"},{"icd_10_cm":"C50.311"},{"icd_10_cm":"C50.312"},{"icd_10_cm":"C50.319"},{"icd_10_cm":"C50.32"},{"icd_10_cm":"C50.321"},{"icd_10_cm":"C50.322"},{"icd_10_cm":"C50.329"},{"icd_10_cm":"C50.41"},{"icd_10_cm":"C50.411"},{"icd_10_cm":"C50.412"},{"icd_10_cm":"C50.419"},{"icd_10_cm":"C50.42"},{"icd_10_cm":"C50.421"},{"icd_10_cm":"C50.422"},{"icd_10_cm":"C50.429"},{"icd_10_cm":"C50.51"},{"icd_10_cm":"C50.511"},{"icd_10_cm":"C50.512"},{"icd_10_cm":"C50.519"},{"icd_10_cm":"C50.52"},{"icd_10_cm":"C50.521"},{"icd_10_cm":"C50.522"},{"icd_10_cm":"C50.529"},{"icd_10_cm":"C50.61"},{"icd_10_cm":"C50.611"},{"icd_10_cm":"C50.612"},{"icd_10_cm":"C50.619"},{"icd_10_cm":"C50.62"},{"icd_10_cm":"C50.621"},{"icd_10_cm":"C50.622"},{"icd_10_cm":"C50.629"},{"icd_10_cm":"C50.81"},{"icd_10_cm":"C50.811"},{"icd_10_cm":"C50.812"},{"icd_10_cm":"C50.819"},{"icd_10_cm":"C50.82"},{"icd_10_cm":"C50.821"},{"icd_10_cm":"C50.822"},{"icd_10_cm":"C50.829"},{"icd_10_cm":"C50.91"},{"icd_10_cm":"C50.911"},{"icd_10_cm":"C50.912"},{"icd_10_cm":"C50.919"},{"icd_10_cm":"C50.92"},{"icd_10_cm":"C50.921"},{"icd_10_cm":"C50.922"},{"icd_10_cm":"C50.929"},{"icd_10_cm":"D05.0"},{"icd_10_cm":"D05.00"},{"icd_10_cm":"D05.01"},{"icd_10_cm":"D05.02"},{"icd_10_cm":"D05.1"},{"icd_10_cm":"D05.10"},{"icd_10_cm":"D05.11"},{"icd_10_cm":"D05.12"},{"icd_10_cm":"D05.9"},{"icd_10_cm":"D05.90"},{"icd_10_cm":"D05.91"},{"icd_10_cm":"D05.92"},{"icd_10_cm":"Z15.01"},{"icd_10_cm":"Z80.3"},{"mesh":"D001943"},{"omim":"114480"},{"omim":"604370"},{"omim":"612555"},{"snomed_ct":"126926005"},{"snomed_ct":"254837009"},{"snomed_ct":"254838004"},{"snomed_ct":"254843006"},{"snomed_ct":"865954003"}]},{"name":"Li-Fraumeni Syndrome","html_text":"Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.
The cancers most often associated with Li-Fraumeni syndrome include breast cancer, a form of bone cancer called osteosarcoma, and cancers of soft tissues (such as muscle) called soft tissue sarcomas. Other cancers commonly seen in this syndrome include brain tumors, cancers of blood-forming tissues (leukemias), and a cancer called adrenocortical carcinoma that affects the outer layer of the adrenal glands (small hormone-producing glands on top of each kidney). Several other types of cancer also occur more frequently in people with Li-Fraumeni syndrome.
A very similar condition called Li-Fraumeni-like syndrome shares many of the features of classic Li-Fraumeni syndrome. Both conditions significantly increase the chances of developing multiple cancers beginning in childhood; however, the pattern of specific cancers seen in affected family members is different.
","ghr_link":"https://medlineplus.gov/genetics/condition/li-fraumeni-syndrome","db_key_list":[{"gtr":"C0085390"},{"gtr":"C1835398"},{"gtr":"C5882668"},{"icd_10_cm":"Z15.01"},{"mesh":"D016864"},{"omim":"151623"},{"omim":"609265"},{"snomed_ct":"428850001"}]},{"name":"Head And Neck Squamous Cell Carcinoma","html_text":"Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. Squamous cells are found in the outer layer of skin and in the mucous membranes, which are the moist tissues that line body cavities such as the airways and intestines. Head and neck squamous cell carcinoma (HNSCC) develops in the mucous membranes of the mouth, nose, and throat.
HNSCC is classified by its location: it can occur in the mouth (oral cavity), the middle part of the throat near the mouth (oropharynx), the space behind the nose (nasal cavity and paranasal sinuses), the upper part of the throat near the nasal cavity (nasopharynx), the voicebox (larynx), or the lower part of the throat near the larynx (hypopharynx). Depending on the location, the cancer can cause abnormal patches or open sores (ulcers) in the mouth and throat, unusual bleeding or pain in the mouth, sinus congestion that does not clear, sore throat, earache, pain when swallowing or difficulty swallowing, a hoarse voice, difficulty breathing, or enlarged lymph nodes.
HNSCC can spread (metastasize) to other parts of the body, such as the lymph nodes or lungs. If it spreads, the cancer has a worse prognosis and can be fatal. About half of affected individuals survive more than five years after diagnosis.
","ghr_link":"https://medlineplus.gov/genetics/condition/head-and-neck-squamous-cell-carcinoma","db_key_list":[{"gtr":"C1168401"},{"mesh":"D002294"},{"mesh":"D006258"},{"omim":"275355"},{"snomed_ct":"405822008"},{"snomed_ct":"408649007"},{"snomed_ct":"419842002"}]},{"name":"Ovarian Cancer","html_text":"Ovarian cancer is a disease that affects women. In this form of cancer, certain cells in the ovary become abnormal and multiply uncontrollably to form a tumor. The ovaries are the female reproductive organs in which egg cells are produced. In about 90 percent of cases, ovarian cancer occurs after age 40, and most cases occur after age 60.
The most common form of ovarian cancer begins in epithelial cells, which are the cells that line the surfaces and cavities of the body. These cancers can arise in the epithelial cells on the surface of the ovary. However, researchers suggest that many or even most ovarian cancers begin in epithelial cells on the fringes (fimbriae) at the end of one of the fallopian tubes, and the cancerous cells migrate to the ovary.
Cancer can also begin in epithelial cells that form the lining of the abdomen (the peritoneum). This form of cancer, called primary peritoneal cancer, resembles epithelial ovarian cancer in its origin, symptoms, progression, and treatment. Primary peritoneal cancer often spreads to the ovaries. It can also occur even if the ovaries have been removed. Because cancers that begin in the ovaries, fallopian tubes, and peritoneum are so similar and spread easily from one of these structures to the others, they are often difficult to distinguish. These cancers are so closely related that they are generally considered collectively by experts.
In about 10 percent of cases, ovarian cancer develops not in epithelial cells but in germ cells, which are precursors to egg cells, or in hormone-producing ovarian cells called granulosa cells.
In its early stages, ovarian cancer usually does not cause noticeable symptoms. As the cancer progresses, signs and symptoms can include pain or a feeling of heaviness in the pelvis or lower abdomen, bloating, feeling full quickly when eating, back pain, vaginal bleeding between menstrual periods or after menopause, or changes in urinary or bowel habits. However, these changes can occur as part of many different conditions. Having one or more of these symptoms does not mean that a woman has ovarian cancer.
In some cases, cancerous tumors can invade surrounding tissue and spread to other parts of the body. If ovarian cancer spreads, cancerous tumors most often appear in the abdominal cavity or on the surfaces of nearby organs such as the bladder or colon. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers.
Some ovarian cancers cluster in families. These cancers are described as hereditary and are associated with inherited gene mutations. Hereditary ovarian cancers tend to develop earlier in life than non-inherited (sporadic) cases.
Because it is often diagnosed at a late stage, ovarian cancer can be difficult to treat; it leads to the deaths of about 14,000 women annually in the United States, more than any other gynecological cancer. However, when it is diagnosed and treated early, the 5-year survival rate is high.
","ghr_link":"https://medlineplus.gov/genetics/condition/ovarian-cancer","db_key_list":[{"gtr":"C1140680"},{"icd_10_cm":"C56"},{"icd_10_cm":"C56.1"},{"icd_10_cm":"C56.2"},{"icd_10_cm":"C56.9"},{"mesh":"D010051"},{"omim":"167000"},{"omim":"604370"},{"omim":"607893"},{"omim":"612555"},{"omim":"613399"},{"omim":"614291"},{"snomed_ct":"363443007"}]},{"name":"Lung Cancer","html_text":"Lung cancer is a disease in which certain cells in the lungs become abnormal and multiply uncontrollably to form a tumor. Lung cancer may not cause signs or symptoms in its early stages. Some people with lung cancer have chest pain, frequent coughing, blood in the mucus, breathing problems, trouble swallowing or speaking, loss of appetite and weight loss, fatigue, or swelling in the face or neck. Additional symptoms can develop if the cancer spreads (metastasizes) into other tissues. Lung cancer occurs most often in adults in their sixties or seventies. Most people who develop lung cancer have a history of long-term tobacco smoking; however, the condition can occur in people who have never smoked.
Lung cancer is generally divided into two types, small cell lung cancer and non-small cell lung cancer, based on the size of the affected cells when viewed under a microscope. Non-small cell lung cancer accounts for 85 percent of lung cancer, while small cell lung cancer accounts for the remaining 15 percent.
Small cell lung cancer grows quickly and in more than half of cases the cancer has spread beyond the lung by the time the condition is diagnosed. Small cell lung cancer often metastasizes, most commonly to the liver, brain, bones, and adrenal glands (small hormone-producing glands located on top of each kidney). After diagnosis, most people with small cell lung cancer survive for about 1 year; less than seven percent survive 5 years.
Non-small cell lung cancer is divided into three main subtypes: adenocarcinoma, squamous cell carcinoma, and large cell lung carcinoma. Adenocarcinoma arises from the cells that line the small air sacs (alveoli) located throughout the lungs. Squamous cell carcinoma arises from squamous cells that line the passages leading from the windpipe (trachea) to the lungs (bronchi). Large cell carcinoma arises from epithelial cells that line the lungs. Large cell carcinoma encompasses non-small cell lung cancers that do not appear to be adenocarcinomas or squamous cell carcinomas. The 5-year survival rate for people with non-small cell lung cancer is usually between 11 and 17 percent; it can be lower or higher depending on the subtype and stage of the cancer.
","ghr_link":"https://medlineplus.gov/genetics/condition/lung-cancer","db_key_list":[{"gtr":"C0684249"},{"icd_10_cm":"C34"},{"icd_10_cm":"C34.0"},{"icd_10_cm":"C34.00"},{"icd_10_cm":"C34.01"},{"icd_10_cm":"C34.02"},{"icd_10_cm":"C34.1"},{"icd_10_cm":"C34.10"},{"icd_10_cm":"C34.11"},{"icd_10_cm":"C34.12"},{"icd_10_cm":"C34.2"},{"icd_10_cm":"C34.3"},{"icd_10_cm":"C34.30"},{"icd_10_cm":"C34.31"},{"icd_10_cm":"C34.32"},{"icd_10_cm":"C34.9"},{"icd_10_cm":"C34.90"},{"icd_10_cm":"C34.91"},{"icd_10_cm":"C34.92"},{"mesh":"D002289"},{"mesh":"D008175"},{"mesh":"D055752"},{"omim":"211980"},{"snomed_ct":"363358000"},{"snomed_ct":"830151004"}]},{"name":"Cholangiocarcinoma","html_text":"Cholangiocarcinoma is a group of cancers that begin in the bile ducts. Bile ducts are branched tubes that connect the liver and gallbladder to the small intestine. They carry bile, which is a fluid that helps the body digest fats that are in food. Bile is made in the liver and stored in the gallbladder before being released in the small intestine after a person eats.
Cholangiocarcinoma is classified by its location in relation to the liver. Intrahepatic cholangiocarcinoma begins in the small bile ducts within the liver. This is the least common form of the disease, accounting for less than 10 percent of all cases. Perihilar cholangiocarcinoma (also known as a Klatskin tumor) begins in an area called the hilum, where the right and left major bile ducts join and leave the liver. It is the most common form of the disease, accounting for more than half of all cases. The remaining cases are classified as distal cholangiocarcinomas, which begin in bile ducts outside the liver. The perihilar and distal forms of the disease, which both occur outside the liver, are sometimes grouped together and called extrahepatic cholangiocarcinoma.
The three types of cholangiocarcinoma do not usually cause any symptoms in their early stages, and this cancer is usually not diagnosed until it has already spread beyond the bile ducts to other tissues. Symptoms often result when bile ducts become blocked by the tumor. The most common symptom is jaundice, in which the skin and whites of the eyes turn yellow. Other symptoms can include extreme tiredness (fatigue), itching, dark-colored urine, loss of appetite, unintentional weight loss, abdominal pain, and light-colored and greasy stools. These symptoms are described as \"nonspecific\" because they can be features of many different diseases.
Most people who develop cholangiocarcinoma are older than 65. Because this cancer is often not discovered until it has already spread, it can be challenging to treat effectively. Affected individuals can survive for several months to several years after diagnosis, depending on the location of the cancer and how advanced it is.
","ghr_link":"https://medlineplus.gov/genetics/condition/cholangiocarcinoma","db_key_list":[{"gtr":"C3810156"},{"icd_10_cm":"C22.1"},{"mesh":"D018281"},{"omim":"615619"},{"snomed_ct":"312104005"},{"snomed_ct":"70179006"}]},{"name":"Wilms Tumor","html_text":"Wilms tumor is a form of kidney cancer that primarily develops in children. Nearly all cases of Wilms tumor are diagnosed before the age of 10, with two-thirds being found before age 5.
Wilms tumor is often first noticed because of abdominal swelling or a mass in the kidney that can be felt upon physical examination. Some affected children have abdominal pain, fever, a low number of red blood cells (anemia), blood in the urine (hematuria), or high blood pressure (hypertension). Additional signs of Wilms tumor can include loss of appetite, weight loss, nausea, vomiting, and tiredness (lethargy).
Wilms tumor can develop in one or both kidneys. About 5 to 10 percent of affected individuals develop multiple tumors in one or both kidneys. Wilms tumor may spread from the kidneys to other parts of the body (metastasize). In rare cases, Wilms tumor does not involve the kidneys and occurs instead in the genital tract, bladder, abdomen, chest, or lower back. It is unclear how Wilms tumor develops in these tissues.
With proper treatment, children with Wilms tumor have a 90 percent survival rate. However, the risk that the cancer will come back (recur) is between 15 and 50 percent, depending on traits of the original tumor. Tumors usually recur in the first 2 years following treatment and develop in the kidneys or other tissues, such as the lungs. Individuals who have had Wilms tumor may experience related health problems or late effects of their treatment in adulthood, such as decreased kidney function, heart disease, and development of additional cancers.
","ghr_link":"https://medlineplus.gov/genetics/condition/wilms-tumor","db_key_list":[{"gtr":"C1832099"},{"gtr":"C1832426"},{"gtr":"C3887743"},{"gtr":"C3891301"},{"gtr":"CN033288"},{"icd_10_cm":"Z85.528"},{"mesh":"D009396"},{"omim":"194070"},{"omim":"194071"},{"omim":"194090"},{"omim":"601363"},{"omim":"601583"},{"omim":"616806"},{"snomed_ct":"25081006"},{"snomed_ct":"302849000"}]},{"name":"Melanoma","html_text":"Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. This cancer typically occurs in areas that are only occasionally sun-exposed; tumors are most commonly found on the back in men and on the legs in women. Melanoma usually occurs on the skin (cutaneous melanoma), but in about 5 percent of cases it develops in melanocytes in other tissues, including the eyes (uveal melanoma) or mucous membranes that line the body's cavities, such as the moist lining of the mouth (mucosal melanoma). Melanoma can develop at any age, but it most frequently occurs in people in their fifties to seventies and is becoming more common in teenagers and young adults.
Melanoma may develop from an existing mole or other normal skin growth that becomes cancerous (malignant); however, many melanomas are new growths. Melanomas often have ragged edges and an irregular shape. They can range from a few millimeters to several centimeters across. They can also be a variety of colors: brown, black, red, pink, blue, or white.
Most melanomas affect only the outermost layer of skin (the epidermis). If a melanoma becomes thicker and involves multiple layers of skin, it can spread to other parts of the body (metastasize).
A large number of moles or other pigmented skin growths on the body, generally more than 25, is associated with an increased risk of developing melanoma. Melanoma is also a common feature of genetic syndromes affecting the skin such as xeroderma pigmentosum. Additionally, individuals who have previously had melanoma are nearly nine times more likely than the general population to develop melanoma again. It is estimated that about 90 percent of individuals with melanoma survive at least 5 years after being diagnosed.
","ghr_link":"https://medlineplus.gov/genetics/condition/melanoma","db_key_list":[{"gtr":"C0025202"},{"gtr":"C0151779"},{"gtr":"C1512419"},{"icd_10_cm":"C43"},{"mesh":"D008545"},{"omim":"155600"},{"omim":"155601"},{"omim":"608035"},{"omim":"609048"},{"omim":"612263"},{"omim":"613099"},{"omim":"613972"},{"omim":"614456"},{"omim":"615134"},{"omim":"615848"},{"snomed_ct":"372244006"},{"snomed_ct":"830150003"},{"snomed_ct":"830195005"}]}]}]},"genomics_england_panelapp":{"version":"03-Jun-2024","items":[{"genecolorreview":"Red","panelid":"309","genelistname":"Skeletal_dysplasia.PanelApp.20240603","genelistotherdata":{"types":[{"name":"Rare Disease 100K","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"Component Of Super Panel","description":"This panel is a component of a Super 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research."}],"currentversion":"1.184"},"genelistdescription":null,"levelofconfidence":"3","penetrance":null,"modeofinheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","modeofpathogenicity":null,"evidences":["Next Generation Children Project","Expert Review Green","Expert list"],"phenotypes":["Bone Marrow Failure Syndrome 5, 618165","Li-Fraumeni Syndrome, 151623"],"pub_med_references":[30847515]},{"genecolorreview":"Green","panelid":"734","genelistname":"Sarcoma_susceptibility.PanelApp.20240603","genelistotherdata":{"types":[{"name":"GMS Cancer Germline Virtual","description":"This is a panel used for WGS germline analysis for the GMS."},{"name":"GMS signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}],"currentversion":"1.81"},"genelistdescription":null,"levelofconfidence":"3","penetrance":null,"modeofinheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","modeofpathogenicity":null,"evidences":["Expert Review Green","NHS GMS"],"phenotypes":["Li-Fraumeni Syndrome, Omim:151623","Solitary Fibrous Tumour","Sarcoma, Mondo:0005089"],"pub_med_references":[27050224,28338660,31529158]},{"genecolorreview":"Green","panelid":"217","genelistname":"Sarcoma_cancer_susceptibility.PanelApp.20240603","genelistotherdata":{"types":[{"name":"Cancer Germline 100K","description":"Cancer Germline 100K"}],"relevant_disorders":[{"normalized_disease":"Sarcoma","normalized_cancer":"Sarcoma, NOS","name":"Sarcoma","id":30010000004377},{"normalized_cancer":"Sarcoma Pertinent Cancer Susceptibility","name":"Sarcoma pertinent cancer susceptibility","id":18446744073709551615}],"currentversion":"1.25"},"genelistdescription":"Cancer Programme, Pertinent cancer susceptibility gene panel","levelofconfidence":"3","penetrance":"Complete","modeofinheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","modeofpathogenicity":null,"evidences":["Expert Review Green","Expert list"],"phenotypes":["Sarcoma"],"pub_med_references":null},{"genecolorreview":"Red","panelid":"486","genelistname":"Paediatric_disorders.PanelApp.20240603","genelistotherdata":{"types":[{"name":"GMS Rare Disease Virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"Super Panel","description":"Superpanel"},{"name":"GMS signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}],"relevant_disorders":[{"name":"Congenital malformation and dysmorphism syndromes - microarray and sequencing","id":18446744073709551615},{"name":"Congenital malformation and dysmorphism 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copy number loss"],"interpretations":"TP53 is a well known tumor suppressor gene that is mutated in wide variety of cancers. Loss of function mutations (missense, nonsense and frameshift mutations) of TP53 have been described in 10-20% of CLL cases and TP53 gene defects tend to be enriched among cases with unmutated IGH variable regions; in some series, TP53 mutations have been reported in approximately 15%-18% of IGHV unmutated CLL cases . TP53 mutations appears to be less common in other types of CLL (eg, less than 5% of IGHV3-21-expressing CLL carried a TP53 defect according to one study). Mutations of TP53 in CLL have been found together with del17p and mutations in other genes such as NOTCH1 and SF3B1. Mutations and deletions of TP53 appear to represent adverse prognostic markers in chronic lymphocytic leukemia. ","tissues":["Blood","Bone Marrow","Lymph Node"],"tumour_types":["Acute Leukemia of Unspecified Cell Type","Acute Myeloid Leukemia","Anemia","Unspecified","Atypical Chronic Myeloid Leukemia","B Lymphoblastic Leukemia/Lymphoma","Chronic Myeloid Leukemia","Chronic Myelomonocytic Leukemia","Chronic Neutrophilic Leukemia","Cytopenia","Eosinophilia","Essential Thrombocythemia","Histiocytic and Dendritic Cell Neoplasms","Langerhans Cell Histiocytosis","Leukocytosis","Leukopenia","Mast Cell Neoplasm","MDS with Ring Sideroblasts","Monocytosis","Myelodysplastic Syndrome","Myelodysplastic/Myeloproliferative Neoplasm","Myeloproliferative Neoplasm","Myeloid Neoplasm","Other Acute Leukemia","Polycythemia Vera","Polycythemia","Primary Myelofibrosis","T Lymphoblastic Leukemia/Lymphoma","Thrombocytopenia","Thrombocytosis"],"disease_or_trait":null,"pub_med_references":[23297687,23403321,24487413,24619868,24652989,24725250,24943832],"variants":[{"gene_id":33956,"type":"copy number loss","definition":"TP53 copy number loss"}]},{"tier":2,"definition":["TP53 any mutation"],"interpretations":"Somatic mutations in TP53 are frequent in human cancer. Germline TP53 mutations cause of Li-Fraumeni syndrome, which is associated with a range of early-onset cancers. The types and positions of TP53 mutations are diverse. TP53 mutations may be potential prognostic and predictive markers in some tumor types, as well as targets for pharmacological intervention in some clinical settings. The IARC TP53 Database (http://www-p53.iarc.fr/) is a useful resource which catalogues TP53 mutations found in cancer.","tissues":["Skin"],"tumour_types":["Melanoma"],"disease_or_trait":null,"pub_med_references":null,"variants":[{"gene_id":33956,"type":"any mutation","definition":"TP53 any mutation"}]},{"tier":2,"definition":["TP53 any mutation"],"interpretations":"Somatic mutations in TP53 are frequent in human cancer. Germline TP53 mutations cause of Li-Fraumeni syndrome, which is associated with a range of early-onset cancers. The types and positions of TP53 mutations are diverse. TP53 mutations may be potential prognostic and predictive markers in some tumor types, as well as targets for pharmacological intervention in some clinical settings. The IARC TP53 Database (http://www-p53.iarc.fr/) is a useful resource which catalogues TP53 mutations found in cancer.","tissues":["Colon","Rectum","Appendix"],"tumour_types":["Adenocarcinoma"],"disease_or_trait":null,"pub_med_references":null,"variants":[{"gene_id":33956,"type":"any mutation","definition":"TP53 any mutation"}]},{"tier":2,"definition":["TP53 any mutation"],"interpretations":"Somatic mutations in TP53 are frequent in human cancer. Germline TP53 mutations cause of Li-Fraumeni syndrome, which is associated with a range of early-onset cancers. The types and positions of TP53 mutations are diverse. TP53 mutations may be potential prognostic and predictive markers in some tumor types, as well as targets for pharmacological intervention in some clinical settings. The IARC TP53 Database (http://www-p53.iarc.fr/) is a useful resource which catalogues TP53 mutations found in cancer.","tissues":["Brain"],"tumour_types":["Glioblastoma"],"disease_or_trait":null,"pub_med_references":null,"variants":[{"gene_id":33956,"type":"any mutation","definition":"TP53 any mutation"}]},{"tier":2,"definition":["TP53 copy number loss","TP53 any deletion"],"interpretations":"P53 activates the transcription of genes involved in cell cycle arrest, DNA repair, and apoptosis. Deletion and point mutation at the TP53 locus occur in 25%-40% and 5%-40% of prostate cancer, respectively. Although the frequency of p53 mutations seems to be lower in prostate cancer than in other cancers, these alterations are not exclusively late events, as they have been shown in 25% to 30% of clinically localized prostate cancer. Several studies indicate that p53 overexpression may be associated with poor prognosis, especially when present in combination with Bcl2. Interestingly, SPOP mutations are also mutually exclusive with deletions and mutations in the TP53 tumor suppressor.\n","tissues":["Prostate"],"tumour_types":["Adenocarcinoma"],"disease_or_trait":null,"pub_med_references":null,"variants":[{"gene_id":33956,"type":"copy number loss","definition":"TP53 copy number loss"},{"gene_id":33956,"type":"any mutation","definition":"TP53 any deletion","coding_impact":"deletion"}]},{"tier":2,"definition":["TP53 any mutation"],"interpretations":"Somatic mutations in TP53 are frequent in human cancer. Germline TP53 mutations cause of Li-Fraumeni syndrome, which is associated with a range of early-onset cancers. The types and positions of TP53 mutations are diverse. TP53 mutations may be potential prognostic and predictive markers in some tumor types, as well as targets for pharmacological intervention in some clinical settings. The IARC TP53 Database (http://www-p53.iarc.fr/) is a useful resource which catalogues TP53 mutations found in cancer.","tissues":["Skin"],"tumour_types":["Langerhans Cell Histiocytosis"],"disease_or_trait":null,"pub_med_references":null,"variants":[{"gene_id":33956,"type":"any mutation","definition":"TP53 any mutation"}]},{"tier":1,"definition":["TP53 copy number loss"],"interpretations":"TP53 is a well known tumor suppressor gene that is mutated in wide variety of cancers. In terms of myeloid disorders, missense, nonsense, and frameshift mutations of TP53 tend to occur in the DNA binding domain and have been reported in approximately 4% of cases of AML where they tend to be associated with a poorer prognosis and an adverse cytogenetic risk profile. TP53 mutations also occur in approximately 10% of patients with myelodysplastic syndrome (MDS) and are often associated with poorer prognosis, adverse cytogenetic profile and deletion of 5q either in isolation or as part of a complex karyotype. ","tissues":["Blood","Bone Marrow"],"tumour_types":["Acute Myeloid Leukemia","Myelodysplastic Syndrome"],"disease_or_trait":null,"pub_med_references":[23297687,23403321,24487413,24619868,24652989,24725250,24943832],"variants":[{"gene_id":33956,"type":"copy number loss","definition":"TP53 copy number loss"}]},{"tier":1,"definition":["TP53 copy number loss"],"interpretations":" TP53 is a well known tumor suppressor gene that is mutated in wide variety of cancers. Among cases of acute lymphoblastic leukemia, overall TP53 mutations are reported to occur in less than 10% of cases. However, TP53 mutations have a very high prevalence (approximately 90%) among cases of ALL with low hypodiploid karyotype and in this setting are often associated with monosomy 17 and may be associated with germline TP53 mutations in a significant proportion of such cases in children. ","tissues":["Blood","Bone Marrow"],"tumour_types":["B Lymphoblastic Leukemia/Lymphoma"],"disease_or_trait":null,"pub_med_references":[23297687,23403321,24487413,24619868],"variants":[{"gene_id":33956,"type":"copy number loss","definition":"TP53 copy number loss"}]},{"tier":2,"definition":["TP53 any mutation"],"interpretations":"Somatic mutations in TP53 are frequent in human cancer. Germline TP53 mutations cause of Li-Fraumeni syndrome, which is associated with a range of early-onset cancers. The types and positions of TP53 mutations are diverse. TP53 mutations may be potential prognostic and predictive markers in some tumor types, as well as targets for pharmacological intervention in some clinical settings. The IARC TP53 Database (http://www-p53.iarc.fr/) is a useful resource which catalogues TP53 mutations found in cancer.","tissues":["Adrenal Gland","Anus","Ampulla (Pancreaticobiliary Duct)","Appendix","Bladder","Blood","Bone","Bone Marrow","Brain","Breast","Spinal Cord","Cervix","Chest Wall","Endometrium","Esophagus","Eye","Fallopian Tube","Fibroadipose Tissue","Gall Bladder","Kidney","Larynx","Liver","Lung","Lymph Node","Nasal Cavity","Oral Cavity","Ovary","Pancreas","Parathyroid","Penis","Peripheral Nervous System","Peritoneum","Pharynx","Pituitary","Placenta","Pleura","Prostate","Retroperitoneum","Salivary Gland","Seminal Vesicle","Skeletal Muscle","Skin","Small Intestine","Soft Tissue","Spleen","Stomach","Testis","Thymus","Thyroid","Tonsil","Ureter","Uterus","Vagina","Rectum","Cartilage","Blood Vessel","Buccal Swab","Heart","Trachea","Salivary Duct","Spermatic Cord","Vulva","Infratentorial","Supratentorial","Gastroesophageal Junction","Sellar","Suprasellar","Colon"],"tumour_types":["Acinar Cell Carcinoma","Acinic Cell Carcinoma","Adenocarcinoma","Adenoid Cystic Carcinoma","Adenosarcoma","Ameloblastic Tumor","Anaplastic Large Cell Lymphoma","Angioimmunoblastic T-Cell Lymphoma","Angiomatoid Fibrous Histiocytoma","Angiomatosis","Angiomyolipoma","Angiosarcoma","Astrocytoma","Anaplastic","Basal Cell Carcinoma","Burkitt Lymphoma","Carcinoid Tumor","Carcinoma","Carcinosarcoma","Cholangiocarcinoma","Chondrosarcoma","Chordoma","Choriocarcinoma","Chromophobe Renal Cell Carcinoma","Chronic Lymphocytic Leukemia","Classical Hodgkin Lymphoma","Clear Cell Carcinoma","Clear Cell Renal Cell Carcinoma","Craniopharyngioma","Dermatofibrosarcoma","Desmoplastic Small Round Cell Tumor","Diffuse Large B Cell Lymphoma","Ductal Carcinoma","Ependymoma","Ewing Sarcoma","Fibromatosis","Follicular Carcinoma","Follicular Lymphoma","Gastrointestinal Stromal Tumor","Germ Cell Tumor","Giant Cell Tumor","Glioblastoma","Glomus Tumor","Granular Cell Tumor","Hairy Cell Leukemia","Hemangioendothelioma","Hepatocellular Carcinoma","Invasive Ductal Carcinoma","Kaposi Sarcoma","Leiomyoma","Leiomyosarcoma","Lipoma","Liposarcoma","Lobular Carcinoma","Lymphoplasmacytic Lymphoma","Malignant Mullerian Mixed Tumor","Mantle Cell Lymphoma","Marginal Zone B Cell Lymphoma","Medullary Carcinoma","Medulloblastoma","Melanoma","Meningioma","Merkel Cell Carcinoma","Mesothelioma","Mucinous Adenocarcinoma","Mucinous Tumors of Ovary","Mucoepidermoid Carcinoma","Myxofibrosarcoma","Nasopharyngeal Carcinoma","Neuroblastoma","Neuroendocrine Carcinoma","Neuroendocrine Neoplasm","NK Cell Lymphoproliferative Disorder","NLPHL","Non-Small Cell Lung Carcinoma","Oligodendroglioma","Osteosarcoma","Papillary Carcinoma","Papillary Renal Cell Carcinoma","Peripheral T Cell Lymphoma","Pheochromocytoma","Plasma Cell Disorder","Post-Transplant Lymphoproliferative Disorder","Primitive Neuroectodermal Tumor","Renal Cell Carcinoma","Reninoma","Retinoblastoma","Rhabdomyosarcoma","Sarcoma","Schwannoma","Serous Carcinoma","Sex Cord Stromal Tumor","Small Cell Carcinoma","Solid Pseudopapillary Tumor of Pancreas","Spindle Cell Neoplasm","Squamous Cell Carcinoma","T Cell Lymphoproliferative Disorder","T-Cell LGL Leukemia","Thymic Carcinoma","Thymoma","Urothelial Carcinoma","Tumors of Peripheral Nerves","Wilms Tumor","Pilocytic","Ganglioglioma","Neuroepithelial Neoplasm","NOS","Pleomorphic Carcinoma","Solitary Fibrous Tumor","Neuroepithelial neoplasm","high grade","Diffusely Infiltrating","Diffuse Midline Glioma","Infiltrating Glioma","Intraductal Papillary Mucinous Neoplasm (IPMN)","Lymphadenopathy","Lymphocytosis","Symptomatic","Monoclonal Gammopathy","Mucinous or Serous Cystic Neoplasms of Pancreas","Mycosis Fungoides","Unspecified Site","Pleomorphic Xanthoastrocytoma","Rash and Other Nonspecific Skin Eruption"],"disease_or_trait":null,"pub_med_references":null,"variants":[{"gene_id":33956,"type":"any mutation","definition":"TP53 any mutation"}]},{"tier":1,"definition":["TP53 any mutation"],"interpretations":"TP53 encodes p53, a tumor suppressor protein that consists of transactivation domain, proline-rich domain, DNA-binding domain, oligomerization domain, and regulatory domain. p53 responds to diverse cellular stresses to maintain genomic stability and to induce cell cycle arrest, apoptosis, DNA repair and metabolic changes. TP53 mutations represent an important mechanism of resistance to DNA-damaging chemotherapeutic agents. Somatic TP53 mutations are found in a variety of cancers with various frequencies depending on cancer type; overall, TP53 is mutated in over one-half of human cancers. Missense mutations were the most frequent (~70-80%), followed by frameshift and nonsense mutations. Most TP53 mutations are clustered in the DNA-binding domain encompassing exons 5 and 8. These mutations either directly disrupt the DNA-binding domain of TP53 or cause conformational changes of the TP53 protein, thus leading to severely impaired TP53 function. Overall in myeloid malignancies, TP53 mutations are found in 5% to 15% of de novo MDS and AML but 20% of myelodysplastic syndrome with isolated del(5q) and ~50% of MDS/AML with complex karyotype. TP53 mutations are also more frequent in therapy-associated myeloid neoplasm (21-38%) compared to de novo MDS and AML. TP53 mutations are also found in 8% of blastic plasmacytoid dendritic cell neoplasm, and less than 5% in myeloproliferative neoplasms (ET, PV and PMF) and chronic myelomonocytic leukemia. TP53 mutations are independently associated with a poor prognosis in myelodysplastic syndrome (NCCN Guidelines for Myelodysplastic Syndromes) and is a poor risk factor in AML (NCCN Guildelines for AML). TP53 mutations are also associated with resistance to lenalidomide or relapse during lenalidomide treatment. TP53 mutations are independently associated with unfavorable outcomes and shorter survival after hematopoietic stem cell transplantation in patients with myelodysplastic syndrome and myelodysplastic syndrome/acute myeloid leukemia, but an increased response to decitabine in patients with myelodysplastic syndrome or acute myeloid leukemia.\n\n","tissues":["Blood","Bone Marrow"],"tumour_types":["Acute Myeloid Leukemia","Myeloproliferative Neoplasm","Mast Cell Neoplasm","Primary Myelofibrosis","Myelodysplastic Syndrome","Chronic Myelomonocytic Leukemia","Acute Leukemia of Unspecified Cell Type","Anemia","Unspecified","Atypical Chronic Myeloid Leukemia","B Lymphoblastic Leukemia/Lymphoma","Chronic Myeloid Leukemia","Chronic Neutrophilic Leukemia","Cytopenia","Eosinophilia","Essential Thrombocythemia","Histiocytic and Dendritic Cell Neoplasms","Langerhans Cell Histiocytosis","Leukocytosis","Leukopenia","MDS with Ring Sideroblasts","Monocytosis","Myelodysplastic/Myeloproliferative Neoplasm","Myeloid Neoplasm","Other Acute Leukemia","Polycythemia Vera","Polycythemia","T Lymphoblastic Leukemia/Lymphoma","Thrombocytopenia","Thrombocytosis"],"disease_or_trait":null,"pub_med_references":[23690417,24072100,26618142,27601546,29296692],"variants":[{"gene_id":33956,"type":"any mutation","definition":"TP53 any 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