Instruct: Given a question, retrieve documents that answer the question.
Query: Is there a way to test for the cancer syndrome?
Hereditary cancer syndromes underlie 5 to 10% of all cancers and there are over 50 identifiable hereditary forms of cancer.[5] Scientific understanding of cancer susceptibility syndromes is actively expanding: additional syndromes are being found,[6] the underlying biology is becoming clearer, and commercialization of diagnostic genetics methodology is improving clinical access. Given the prevalence of breast and colon cancer, the most widely recognized syndromes include hereditary breast-ovarian cancer syndrome (HBOC) and hereditary non-polyposis colon cancer (HNPCC, Lynch syndrome).[6]
false-negative test result
– false-positive test result
– familial adenomatous polyposis
– familial atypical multiple mole melanoma syndrome
– familial cancer
– familial dysplastic nevi
– familial polyposis
– Family history (medicine)
– FAMMM syndrome
– Fanconi anemia
– Fanconi syndrome
– FAP
– fatty-replaced breast tissue
– fazarabine
– fecal occult blood test
– fenretinide
– fentanyl
– fiber
– fibrin sealant
– fibroblast
– fibroid
– fibromatosis
– fibrosarcoma
– fibrosis
– fibrous
– fifth cranial nerve
– filgrastim
– filgrastim-SD/01
– finasteride
– fine-needle aspiration
– first-line therapy
– FK463
– flavonoid
– flavopiridol
– flecainide
– flow cytometry
– floxuridine
– flt3L
– fluconazole
– flucytosine
– fludarabine
– fludeoxyglucose F 18
– fludrocortisone
– fluoropyrimidine
– fluoroscope
– fluoroscopy
– fluorouracil
– fluoxetine
– flutamide
– FOBT
– folate
– folate antagonist
– FOLFOX
– folic acid
– follicular large cell lymphoma
– follicular mixed cell lymphoma
– follicular thyroid cancer
– formaldehyde
– FR901228
– fractionation
– free radical
– fulguration
– fulvestrant
– functional magnetic resonance imaging
– fundus
– fungating lesion
– fusion protein
A cure for Werner syndrome has not yet been discovered. It is often treated by managing the associated diseases and relieving symptoms to improve quality of life. The skin ulcers that accompany WS can be treated in several ways, depending on the severity. Topical treatments can be used for minor ulcers, but are not effective in preventing new ulcers from occurring. In the most severe cases, surgery may be required to implant a skin graft or amputate a limb if necessary. Diseases commonly associated with Werner syndrome such as diabetes and cancer are treated in generally the same ways as they would be for a non-Werner syndrome individual. A change in diet and exercise can help prevent and control arteriosclerosis, and regular cancer screenings can allow for early detection of cancer.
The Amsterdam clinical criteria identifies candidates for genetic testing, and genetic testing can make a diagnosis of Lynch syndrome. Genetic testing is commercially available and consists of a blood test.
Genetic testing can be used to identify mutated genes or chromosomes that are passed through generations. People who test positive for having a genetic mutation are not necessarily condemned to develop the cancer linked with the mutation, however they possess an increased risk of developing cancer in comparison to the general population. It is advised that people get a genetic test if their family medical history includes: Multiple family members with cancer, someone in their family that got cancer at a particularly young age or by being part of a certain ethnic group.[65]
Examples of autosomal recessive cancer syndromes are ataxia telangiectasia, Bloom syndrome, Fanconi anemia, MUTYH-associated polyposis, Rothmund-Thomson syndrome, Werner's syndrome and Xeroderma pigmentosum.[9]
Li-Fraumeni syndrome is an autosomal dominant syndrome primarily caused by mutations in the TP53 gene, which greatly increases the risk of many cancers and is also highly associated with early onset of these cancers. Cancers linked to this disorder include; soft tissue sarcomas (often found in childhood), osteosarcoma, breast cancer, brain cancer, leukaemia and adrenocortical carcinoma. Individuals with Li-Fraumeni syndrome often have multiple independent primary cancers. The reason for the large clinical spectrum of this disorder may be due to other gene mutations that modify the disease. The protein produced by the TP53 gene, p53, is involved in cell cycle arrest, DNA repair and apoptosis. Defective p53 may not be able to properly perform these processes, which may be the reason for tumor formation. Because only 60-80% of individuals with the disorder have detectable mutations in TP53, other mutations in the p53 pathway may be involved in Li-Fraumeni syndrome.[24][25][26][27]
Diagnostic testing in a possible paraneoplastic syndrome depends on the symptoms and the suspected underlying cancer.
Those with a family history in two or more first-degree relatives (such as a parent or sibling) have a two to threefold greater risk of disease and this group accounts for about 20% of all cases. A number of genetic syndromes are also associated with higher rates of colorectal cancer. The most common of these is hereditary nonpolyposis colorectal cancer (HNPCC or Lynch syndrome) which is present in about 3% of people with colorectal cancer. Other syndromes that are strongly associated with colorectal cancer include Gardner syndrome, and familial adenomatous polyposis (FAP). For people with these syndromes, cancer almost always occurs and makes up 1% of the cancer cases. A total proctocolectomy may be recommended for people with FAP as a preventative measure due to the high risk of malignancy. Colectomy, removal of the colon, may not suffice as a preventative measure because of the high risk of rectal cancer if the rectum remains.
Genetic testing is important as if a test comes out positive they are more aware of their own personal health and the health of immediate family members.[70] With the help and advice from a medical professional they can take steps to reduce their elevated risk of cancer development through:
In cases where a metastasis from colorectal cancer is suspected, immunohistochemistry is used to ascertain correct diagnosis. Some proteins are more specifically expressed in colorectal cancer and can be used as diagnostic markers such as CK20 and MUC2. Immunohistochemistry can also be used to screen for Lynch syndrome, a genetic disorder with increased risk of colorectal and other cancers. The diagnosis of Lynch syndrome is made by looking for specific genetic mutations in genes MLH1, MSH2, MSH6, and PMS2. Immunohistochemical testing can also be used to guide treatment and assist in determining the prognosis. Certain markers isolated from the tumor can indicate specific cancer types or susceptibility to different treatments.
Hereditary breast–ovarian cancer syndromes (HBOC) are cancer syndromes that produce higher than normal levels of breast cancer and ovarian cancer in genetically related families (either one individual had both, or several individuals in the pedigree had one or the other disease). The hereditary factors may be proven or suspected to cause the pattern of breast and ovarian cancer occurrences in the family.
Familial adenomatous polyposis (FAP), Gardner syndrome, Lynch syndrome, Muir–Torre syndrome, celiac disease, Peutz–Jeghers syndrome, Crohn's disease and juvenile polyposis syndrome are risk factors for developing this cancer.
As noted above, there is greatly elevated rate of mutation in Bloom syndrome and the genomic instability is associated with a high risk of cancer in affected individuals. The cancer predisposition is characterized by 1) broad spectrum, including leukemias, lymphomas, and carcinomas, 2) early age of onset relative to the same cancer in the general population, and 3) multiplicity, that is, synchronous or metachronous cancers. There is at least one person with Bloom syndrome who had five independent primary cancers. Persons with Bloom syndrome may develop cancer at any age. The average age of cancer diagnoses in the cohort is approximately 26 years old.
In the cases where nonfunctional testes are present, or with partial androgen insensitivity syndrome, there is a risk that these develop cancer. They are removed by orchidectomy or monitored carefully. In a major Parliamentary report in Australia, published in October 2013, the Senate Community Affairs References committee was "disturbed" by the possible implications of current practices in the treatment of cancer risk. The committee stated: "clinical intervention pathways stated to be based on probabilities of cancer risk may be encapsulating treatment decisions based on other factors, such as the desire to conduct normalising surgery… Treating cancer may be regarded as unambiguously therapeutic treatment, while normalising surgery may not. Thus basing a decision on cancer risk might avoid the need for court oversight in a way that a decision based on other factors might not. The committee is disturbed by the possible implications of this..."
The term previvor has been used to describe unaffected carriers. Unaffected carriers, or previvors, are those who have not diagnosed with cancer, but who know that they are likely to develop cancer due to certain genetic mutations that form a known cancer syndrome. They have a survived the predisposition, or higher risk, of cancer. As such, this is the first generation in human history who, armed with information about a predisposition to a cancer after opting into DNA testing, can make informed choices prior to cancer diagnosis. The typical previvor has tested positive for a BRCA mutation and learned that she is at high risk for developing breast cancer and ovarian cancer, and is attempting to manage that risk through a combination of increased surveillance through mammograms, breast MRIs, pelvic ultrasounds, oophorectomy, bilateral mastectomy, and other medical procedures. There has been much controversy over the term "previvor", due to the fact that the name compares these healthy women to people have actually been diagnosed with invasive cancer.
Although there are over 50 identifiable hereditary forms of cancer, less than 0.3% of the population are carriers of a cancer-related genetic mutation and these make up less than 3–10% of all cancer cases. The vast majority of cancers are non-hereditary ("sporadic cancers"). Hereditary cancers are primarily caused by an inherited genetic defect. A cancer syndrome or family cancer syndrome is a genetic disorder in which inherited genetic mutations in one or more genes predisposes the affected individuals to the development of cancers and may also cause the early onset of these cancers. Although cancer syndromes exhibit an increased risk of cancer, the risk varies. For some of these diseases, cancer is not the primary feature and is a rare consequence.
The preferable way to diagnose the presence of this syndrome would be to use the help of clinical tests and medical reports after the tests and examinations. Now being aware of the subject that HAIR-AN syndrome is caused by genetic, environmental factors and also the hyperandogenism, insulin resistance and acanthosis nigricans, some of the way we could diagnosis this syndrome is by looking for signs in the body for symptoms leading to relate to those key contributors discussed above.
"HRAS" is a proto-oncogene in which somatic mutations in healthy people can contribute to cancer. Whereas children with Costello syndrome typically have a mutation in "HRAS" in every cell of their bodies, an otherwise healthy person with a tumor caused in part by "HRAS" mutation will only have mutant "HRAS" within the tumor. The test for the mutation in cancer tumors can also be used to test children for Costello syndrome.
Examples of autosomal dominant cancer syndromes are autoimmune lymphoproliferative syndrome (Canale-Smith syndrome), Beckwith–Wiedemann syndrome (although 85% of cases are sporadic), Birt–Hogg–Dubé syndrome, Carney syndrome, familial chordoma, Cowden syndrome, dysplastic nevus syndrome with familial melanoma, familial adenomatous polyposis, hereditary breast-ovarian cancer syndrome, hereditary diffuse gastric cancer (HDGC), hereditary non-polyposis colon cancer (Lynch syndrome), Howel–Evans syndrome of eosophageal cancer with tylosis, juvenile polyposis syndrome, Li-Fraumeni syndrome, multiple endocrine neoplasia type 1/2, multiple osteochondromatosis, neurofibromatosis type 1/2, nevoid basal cell carcinoma syndrome (Gorlin syndrome), Peutz-Jeghers syndrome, familial prostate cancer, hereditary leiomyomatosis renal cell cancer (LRCC), hereditary papillary renal cell cancer (HPRCC), hereditary paraganglioma-pheochromocytoma syndrome, retinoblastoma, tuberous sclerosis, von Hippel-Lindau disease and Wilm's tumor.[9]
Some rare cancers are strongly associated with hereditary cancer predisposition syndromes. Genetic testing should be considered with adrenocortical carcinoma; carcinoid tumors; diffuse gastric cancer; fallopian tube/primary peritoneal cancer; leiomyosarcoma; medullary thyroid cancer; paraganglioma/pheochromocytoma; renal cell carcinoma of chromophobe, hybrid oncocytic, or oncocytoma histology; sebaceous carcinoma; and sex cord tumors with annular tubules.[6] Primary care physicians can identify people who are at risk of heridatary cancer syndrome.[7]
Genetic disorders can also cause endometrial cancer. Overall, hereditary causes contribute to 2–10% of endometrial cancer cases. Lynch syndrome, an autosomal dominant genetic disorder that mainly causes colorectal cancer, also causes endometrial cancer, especially before menopause. Women with Lynch syndrome have a 40–60% risk of developing endometrial cancer, higher than their risk of developing colorectal (bowel) or ovarian cancer. Ovarian and endometrial cancer develop simultaneously in 20% of people. Endometrial cancer nearly always develops before colon cancer, on average, 11 years before. Carcinogenesis in Lynch syndrome comes from a mutation in MLH1 and/or MLH2: genes that participate in the process of mismatch repair, which allows a cell to correct mistakes in the DNA. Other genes mutated in Lynch syndrome include MSH2, MSH6, and PMS2, which are also mismatch repair genes. Women with Lynch syndrome represent 2–3% of endometrial cancer cases; some sources place this as high as 5%. Depending on the gene mutation, women with Lynch syndrome have different risks of endometrial cancer. With MLH1 mutations, the risk is 54%; with MSH2, 21%; and with MSH6, 16%.
A strong family history of endometrial cancer, colon cancer, or other gastrointestinal cancers may indicate the presence of a syndrome known as hereditary nonpolyposis colorectal cancer (also known as Lynch syndrome), which confers a higher risk for developing a number of cancers, including ovarian cancer. Lynch syndrome is caused by mutations in mismatch repair genes, including "MSH2, MLH1, MLH6, PMS1", and "PMS2". The risk of ovarian cancer for an individual with Lynch syndrome is between 10 and 12 percent. People of Icelandic descent, European Jewish descent/Ashkenazi Jewish descent, and Hungarian descent are at higher risk for epithelial ovarian cancer. Estrogen receptor beta gene (ESR2) seems to be a key to pathogenesis and response to therapy. Other genes that have been associated with ovarian cancer are "BRIP1", "MSH6", "RAD51C" and "RAD51D". "CDH1", "CHEK2", "PALB2" and "RAD50" have also been associated with ovarian cancer.
Genetic testing for mutations in DNA mismatch repair genes is expensive and time-consuming, so researchers have proposed techniques for identifying cancer patients who are most likely to be HNPCC carriers as ideal candidates for genetic testing. The Amsterdam Criteria (see below) are useful, but do not identify up to 30% of potential Lynch syndrome carriers. In colon cancer patients, pathologists can measure microsatellite instability in colon tumor specimens, which is a surrogate marker for DNA mismatch repair gene dysfunction. If there is microsatellite instability identified, there is a higher likelihood for a Lynch syndrome diagnosis. Recently, researchers combined microsatellite instability (MSI) profiling and immunohistochemistry testing for DNA mismatch repair gene expression and identified an extra 32% of Lynch syndrome carriers who would have been missed on MSI profiling alone. Currently, this combined immunohistochemistry and MSI profiling strategy is the most advanced way of identifying candidates for genetic testing for Lynch syndrome.
By using the S&S algorithm, mutations and genes that cause many different forms of cancer have been discovered. For example, genes causing commonly occurring cancers including breast cancer, ovarian cancer, colorectal cancer, leukemia, head and neck cancers, prostate cancer, retinoblastoma, squamous cell carcinoma, gastrointestinal cancer, melanoma, liver cancer, Lynch syndrome, skin cancer, and neurofibromatosis have been found.  In addition, splicing mutations in genes causing less commonly known cancers including gastric cancer, gangliogliomas, Li-Fraumeni syndrome, Loeys–Dietz syndrome, Osteochondromas (bone tumor), Nevoid basal cell carcinoma syndrome, and Pheochromocytomas have been identified.