Samadder explains. For example, where a breast cancer drug can be used in a patient with colon cancer. Equally important to the discovery of a patient's inherited cancer mutation is the potential for patients to share the heritable cause of their disease with their blood relatives, allowing family members to pursue care for earlier disease detection and cancer management.
In the study, all blood-related family members of patients found to have a genetic mutation were offered free genetic testing.
Samadder says the next steps will be to incorporate the study findings into the care of all patients with cancer at Mayo Clinic. Genetic sequencing, deletion and duplication analysis, and variant interpretation were performed at Invitae Corp. Those with APC genotypes predisposing to desmoid formation e. FGPs are often diffuse and not amenable to endoscopic removal. The hyperplastic surface epithelium is, by definition, nonneoplastic. Accordingly, FGPs have not been considered precancerous.
However, case reports of stomach cancer appearing to arise from FGPs have led to a reexamination of this issue. The study's authors recommended that, if a polyp with high-grade dysplasia is identified, polypectomy be considered with repeat endoscopic surveillance in 3 to 6 months.
To the trained eye, the presence of dysplasia and the concomitant absence of a characteristic PPI effect can be considered highly suggestive of the presence of underlying FAP. Gastric adenomas also occur in FAP patients.
FAP patients in Korea and Japan are reported to have a threefold to fourfold increased risk of gastric cancer compared with the general population in those countries, a finding not observed in Western populations. More recently, a rise in incidence of gastric adenocarcinoma was observed in a Western FAP database. Although penetrance of the gastric polyposis phenotype is high, the phenotype can vary ranging from asymptomatic adults to teenagers presenting with massive symptomatic gastric polyposis, as well as unaffected carriers who had clean endoscopies at ages ranging from 42 to 77 years.
However, the penetrance for gastric cancer is less clear. Whereas the incidence of duodenal adenomas is only 0.
Most are located in the first and second portions of the duodenum, especially in the periampullary region. In contrast to earlier beliefs regarding an indolent clinical course, the adenomas increased in size and degree of dysplasia during the 8 years of average surveillance, although only 4.
Intestinal polyps can also be assessed in FAP patients using capsule endoscopy. A retrospective review of FAP patients suggested that the adenoma-carcinoma sequence occurred in a temporal fashion for periampullary adenocarcinomas with a diagnosis of adenoma at a mean age of 39 years, high-grade dysplasia at a mean age of 47 years, and adenocarcinoma at a mean age of 54 years.
FAP patients with particularly severe duodenal polyposis, sometimes called dense polyposis , or with histologically advanced duodenal adenomas appear to be at the highest risk of developing duodenal adenocarcinoma. The predictive utility of the Spigelman classification has been called into question. The point system for dysplasia classifies dysplasia as mild, moderate, or severe, yet pathologists do not customarily attempt to distinguish moderate dysplasia from low-grade.
There are no studies validating interobserver concordance in classifying a villous component or interpretation of the degree of dysplasia. A study from the Cleveland Clinic comparing Spigelman classification and its components in patients with FAP with and without cancer found neither adenoma count nor villous component to be predictive of cancer risk. Other extracolonic tumors arising in FAP patients include papillary thyroid cancer, adrenal tumors, hepatoblastoma, and brain tumors.
This pathogenic variant is generally restricted to sporadic papillary thyroid carcinomas, suggesting the involvement of genetic factors other than APC pathogenic variants. Three of these patients underwent subsequent surgery and were found to have ACC, bilateral nodular hyperplasia, or adrenocortical adenoma. The prevalence of an unexpected adrenal neoplasia in this cohort was 7.
Most lesions in this series followed a benign and slowly progressive course; no cases of ACC were reported. Hepatoblastoma is a rare, rapidly progressive, and usually fatal childhood malignancy that, if confined to the liver, can be cured by radical surgical resection.
Multiple cases of hepatoblastoma have been described in children with an APC pathogenic variant. The constellation of CRC and brain tumors has been referred to as Turcot syndrome; however, Turcot syndrome is molecularly heterogeneous. Molecular studies have demonstrated that colon polyposis and medulloblastoma are associated with pathogenic variants in APC thus representing FAP , while colon cancer and glioblastoma are associated with pathogenic variants in mismatch repair MMR genes thus representing Lynch syndrome.
High-grade astrocytomas and ependymomas have also been described in FAP patients. The APC gene on chromosome 5q21 encodes a 2,amino acid protein that is important in cell adhesion and signal transduction; the main function of the APC protein is to regulate intracellular concentrations of beta-catenin, a major mediator of the Wnt signal transduction pathway.
APC is a tumor suppressor gene , and the loss of APC is among the earliest events in the chromosomal instability colorectal tumor pathway. More than different disease-associated pathogenic variants of the APC gene have been reported. However, in many probands with a personal or family history of polyposis, multigene panel testing is an appropriate option to consider given the genetic heterogeneity of polyposis conditions and the phenotypic overlap among associated syndromes.
In particular, patients who develop fewer than colorectal adenomatous polyps may pose a diagnostic challenge. However, it is important to verify the testing methodology with each laboratory. In families in which a pathogenic variant in the APC gene is identified, predictive testing for at-risk relatives can definitively identify or rule out the variant.
Such testing is important to determine whether at-risk relatives need to undergo aggressive screening or whether such procedures are not necessary or can be discontinued i. Most patients with FAP have an affected parent, and a pattern of autosomal dominant inheritance may be observed in the family.
Accordingly, cascade genetic counseling and testing may then be extended to at-risk family members. Thus, siblings of an individual should always be offered APC testing, but testing aunts, uncles, and cousins of the proband would not be indicated.
The early appearance of clinical features of FAP and the subsequent recommendations for surveillance beginning at puberty raise special considerations relating to the genetic testing of minors. In addition, testing infants for FAP can allow for hepatoblastoma surveillance until age 5 years. Otherwise, if at-risk minors are not tested, colonoscopy or flexible sigmoidoscopy is initiated between ages 10 to 15 years. Individuals at risk of FAP, because of a known APC pathogenic variant in either the family or themselves, are evaluated for onset of polyposis by flexible sigmoidoscopy or colonoscopy.
Prophylactic surgery has been shown to improve survival in patients with FAP. In addition, in carefully selected patients with AFAP those with minimal polyp burden and advanced age , deferring a decision about colectomy may be reasonable with surgery performed only in the face of advancing polyp burden or dysplasia. A Finnish nationwide population-based retrospective study evaluating whether surveillance of family members with FAP reduced overall mortality and improved survival demonstrated that family members of probands who were recruited to the screening program had equivalent survival to the general population up to 20 years after diagnosis of FAP.
There were probands and family members 83 diagnosed by genetic testing and by endoscopy with a median time of follow-up of In this study, the survival analysis of members of FAP families was calculated using the relative survival estimate. In terms of mortality, the standardized mortality ratio was elevated in probands in both the 0- to 5-year and 5- to year periods of follow-up whereas it remained stable for family members until 20 years of follow-up.
This difference was more marked in the beginning of follow-up for probands taking into account the fact that probably most were symptomatic, and most likely had CRC at the diagnosis. The authors pointed out that if the CRC was treated successfully without recurrence, the survival of the probands approached that of the family members. Endoscopic surveillance usually begins early age, 10—15 y.
Historically, sigmoidoscopy may have been a reasonable approach in identifying early adenomas in most patients. However, colonoscopy is the tool of choice in light of a improved instrumentation for full colonoscopy; b sedation; c recognition of AFAP, in which the disease is typically most manifest in the right colon; and d the growing tendency to defer surgery for a number of years. In the case of families in which no family variant has been identified in an affected person, clinical surveillance is warranted.
Colon surveillance is not stopped in persons who are known to carry an APC pathogenic variant but who do not yet manifest polyps, because adenomas occasionally are not manifest until the fourth and fifth decades of life.
FAP patients and their doctors should have an individualized discussion to decide when surgery will be performed. It is useful to incorporate into the discussion the risk of developing desmoid tumors after surgery, as well as fecundity for women.
Timing of risk-reducing surgery usually depends on the number of polyps, their size, histology, and symptomatology. At this time, it is appropriate for patients to consult with a surgeon who is experienced with available options, including total colectomy and restorative proctocolectomy.
Surgical options include restorative proctocolectomy with ileal pouch anal anastomosis IPAA , total colectomy with ileorectal anastomosis IRA , or total proctocolectomy with ileostomy TPC. TPC is reserved for patients with low rectal cancer in which the sphincter cannot be spared or for patients on whom an IPAA cannot be performed because of technical problems. There is no risk of developing rectal cancer after TPC because the whole mucosa at risk is removed.
These procedures can be performed utilizing minimally invasive techniques. Irrespective of whether a colectomy and an IRA or a restorative proctocolectomy is performed, most experts suggest that periodic and lifelong surveillance of the rectum or the ileal pouch be performed to remove or ablate any polyps.
In most cases, the clinical polyp burden in the rectum at the time of surgery dictates the type of surgical intervention, namely, restorative proctocolectomy with IPAA versus IRA. Celecoxib, a specific cyclooxygenase 2 COX-2 inhibitor, and nonspecific COX-2 inhibitors, such as sulindac a nonsteroidal anti-inflammatory drug [NSAID] , have been associated with a decrease in polyp size and number in FAP patients, suggesting a role for chemopreventive agents in the treatment of this disorder.
Nevertheless, agents such as celecoxib and sulindac are in sufficiently widespread use that chemopreventive clinical trials typically utilize one of these agents as the control arm.
A randomized trial showed possible marginal improvement in polyp burden with the combination of celecoxib and difluoromethylornithine, compared with celecoxib alone. A small, randomized, placebo-controlled, dose-escalation trial of celecoxib in a pediatric population aged 10—14 y demonstrated the safety of celecoxib at all dosing levels when administered over a 3-month period. Omegapolyunsaturated fatty acid eicosapentaenoic acid in the free fatty acid form has been shown to reduce rectal polyp number and size in a small study of patients with FAP after subtotal colectomy.
It is unclear at present how to incorporate COX-2 inhibitors into the management of FAP patients who have not yet undergone risk-reducing surgery. A double-blind placebo-controlled trial of 41 child and young adult carriers of APC pathogenic variants who had not yet manifested polyposis demonstrated that sulindac may not be effective as a primary treatment in FAP. There were no statistically significant differences between the sulindac and placebo groups over 4 years of treatment in incidence, number, or size of polyps.
Consistent with the effects of COX-2 inhibitors on colonic polyps, in a randomized, prospective, double-blind, placebo-controlled trial, celecoxib reduced, but did not eliminate, the number of duodenal polyps in 32 patients with FAP after a 6-month course of treatment. Because of the common clustering of adenomatous polyps around the duodenal papilla where bile enters the intestine and preclinical data suggesting that ursodeoxycholate inhibits intestinal adenomas in mice that harbor an Apc germline variant,[ ] two trials that employ ursodeoxycholate have been performed.
Because of reports demonstrating an increase in cardiac-related events in patients taking rofecoxib and celecoxib,[ - ] it is unclear whether this class of agents will be safe for long-term use for patients with FAP and in the general population. Also, because of the short-term 6 months nature of these trials, there is currently no clinical information about cardiac events in FAP patients taking COX-2 inhibitors on a long-term basis.
Level of evidence celecoxib : 1b. One cohort study has demonstrated regression of colonic and rectal adenomas with sulindac treatment in FAP. The reported outcome of this trial was the number and size of polyps, a surrogate for the clinical outcome of main interest, CRC incidence. Level of evidence sulindac : 1b.
A 6-month double-blind, randomized, placebo-controlled trial tested the efficacy of sulindac, mg twice daily, and erlotinib, 75 mg daily, versus placebo in FAP or AFAP patients with duodenal polyps. The trial was terminated prematurely because the primary endpoint was met. The intent-to-treat analysis demonstrated a median decrease in duodenal polyp burden sum of diameters of 8. Significantly higher rates of grade 1 and grade 2 adverse events occurred in the treatment arm than in the placebo arm: in the treatment arm, A trial in 82 individuals with FAP found that combination treatment with sulindac mg twice daily and erlotinib 75 mg daily compared with placebo resulted in a significantly lower However, it is unclear to what extent erlotinib contributed to this reduction given that sulindac has been proven effective in the lower GI tract.
An ongoing clinical trial NCT is determining whether lower doses of erlotinib alone are sufficient for significantly reducing duodenal polyp burden in patients with FAP and AFAP. Patients who carry APC germline pathogenic variants are at increased risk of other types of malignancies, including desmoid tumors, gastric tumors, duodenal cancer, small bowel cancer, hepatoblastoma, thyroid cancer, and brain tumors.
The management of these extracolonic tumors is described below. The management of desmoids in FAP can be challenging and can complicate prevention efforts. There is no accepted standard treatment for desmoid tumors. Multiple medical treatments have generally been unsuccessful in the management of desmoids.
Studies have evaluated the use of raloxifene alone, tamoxifen or raloxifene combined with sulindac, and pirfenidone alone. All 13 patients with intra-abdominal desmoid disease had either a partial or a complete response 7 months to 35 months after starting treatment, and most desmoids decreased in size at 4. Response occurred in patients with desmoid plaques and with distinct lesions. Study limitations include small sample size and the clinical evaluation of response, which was not consistent in all patients.
Several questions remain concerning the outcomes of patients with desmoid tumors not expressing estrogen-alpha receptors who have received raloxifene, as well as which patients may benefit from this potential treatment.
However, the natural history of desmoids is variable, with both spontaneous regression and variable growth rates. A third study reported mixed results in 14 patients with FAP-associated desmoid tumors treated with pirfenidone for 2 years. There are reports of using imatinib mesylate to treat desmoid tumors in FAP patients with some success.
Level of evidence: 4. The benefit of the tyrosine kinase inhibitor sorafenib in the treatment of desmoid tumors was demonstrated in a phase III randomized trial comparing sorafenib mg daily with placebo in 87 patients with unresectable progressive or symptomatic desmoid tumors. Level of evidence: 1. Because of the high rates of morbidity and recurrence, in general, surgical resection is not recommended in the treatment of intra-abdominal desmoid tumors. A review of experiences at one hospital suggested that surgical outcomes with intra-abdominal desmoids may be better than previously believed.
It is not clear what should be done with gastric adenomas. Only retrospective case series are available and point to a relatively low prevalence of gastric adenocarcinoma development in FAP patients.
One group recommends endoscopic polypectomy for the management of gastric adenomas. Level of evidence: 5. A baseline upper endoscopy, including side-viewing duodenoscopy, is typically performed between ages 25 and 30 years in FAP patients. The main advantages of the Spigelman classification are its long-standing familiarity to and usage by those in the field, which allows reasonable standardization of outcome comparisons across studies.
The results of long-term duodenal adenoma surveillance of FAP patients in Nordic countries and the Netherlands revealed significant duodenal cancer risk in FAP patients. Subsequently, patients were followed up with surveillance according to international guidelines. Median follow-up was 14 years range, 9—17 y. Survival in patients with symptomatic cancers was worse than those diagnosed at surveillance endoscopy.
Many factors, including severity of polyposis, comorbidities, patient preferences, and availability of adequately trained physicians, determine whether surgical or endoscopic therapy is selected for polyp management.
Endoscopic resection or ablation of large or histologically advanced adenomas appears to be safe and effective in reducing the short-term risk of developing duodenal adenocarcinoma;[ 80 , 81 , ] however, patients managed with endoscopic resection of adenomas remain at substantial risk of developing recurrent adenomas in the duodenum.
Duodenotomy and local resection of duodenal polyps or mucosectomy have been reported, but invariably, the polyps recur after these procedures. This local recurrence rate was dramatically lower than any local endoscopic or surgical approach from the same study. As noted in a Northern European study,[ 20 ] and others,[ , ] most patients with duodenal adenomas will not develop cancer and can be followed with endoscopy.
However, individuals with advanced adenomas Spigelman stage III or stage IV disease generally require endoscopic or surgical treatment of the polyps. Chemoprevention studies for duodenal adenomas in FAP patients are under way and may offer an alternate strategy in the future.
Refer to the Chemoprevention section of this summary for more information. Ampullary lesions require even greater care including endoscopic ultrasound evaluation for evidence of bile or pancreatic duct involvement. Stenting of the pancreatic duct is commonly performed to prevent stricturing and pancreatitis.
The stents require endoscopic removal at an interval of 1 to 4 weeks. Because the ampulla is tethered at the ductal orifices, it typically does not uniformly lift with injection, so injection is commonly not used. Any consideration of EMR or ampullectomy requires great experience and judgment, with careful consideration of the natural history of untreated lesions and an appreciation of the high rate of adenoma recurrence despite aggressive endoscopic intervention.
For Spigelman stage II and stage III disease, there is a role for endoscopic treatment invariably focusing on the one or two worst lesions that are present. Reluctance to consider surgical resection is related to the short-term morbidity and mortality and the long-term complications related to surgery.
Although these concerns are likely overstated,[ , , , , - ] fear of surgical intervention can lead to aggressive and somewhat ill-advised endoscopic interventions. However, this is associated with a high risk of local recurrence similar to that of endoscopic treatment.
Although level 1 evidence is lacking, a consensus opinion recommends a baseline thyroid examination beginning in the late teenage years to screen for papillary thyroid cancer in patients with FAP, with a repeat ultrasound every 2 to 5 years if results are normal. Level of evidence thyroid cancer ultrasound screening : 4. Although level 1 evidence is lacking, a consensus panel has suggested that liver palpation, abdominal ultrasonography, and measurement of serum alpha-fetoprotein every 3 to 6 months for the first 5 years of life in children with a predisposition to FAP be considered.
Level of evidence hepatoblastoma or adrenal cancer screening : 5. Medulloblastoma is a highly malignant tumor that is usually only symptomatic 6 months or less before diagnosis; annual surveillance of asymptomatic patients may be insufficient. Thus, surveillance by means of regular CT or magnetic resonance imaging cannot be advocated. FAP family members who do not yet have polyposis, but have signs or symptoms suggestive of a brain tumor, should be evaluated with neuroimaging because brain tumors present before the diagnosis of polyposis in more than half of FAP patients.
Careful evaluation is also important among FAP families in which one member already has a brain tumor because familial clustering occurs. AFAP was first described clinically in in a large kindred with a variable number of adenomas. The average number of adenomas in this kindred was 30, although they ranged in number from a few to hundreds.
These manifestations include upper GI polyps FGPs, duodenal adenomas, and duodenal adenocarcinoma , osteomas, epidermoid cysts, and desmoid tumors. Patients found to have an unusually or unacceptably high adenoma count at an age-appropriate colonoscopy pose a differential diagnostic challenge.
Table 7 summarizes the clinical practice guidelines from different professional societies regarding surveillance of AFAP. MAP is an autosomal recessively inherited polyposis syndrome caused by pathogenic variants in the Mut Y homolog gene. MUTYH is located on chromosome 1p AV Japan and Korea. Most often it resembles the clinical picture of AFAP, but it has been reported in individuals with phenotypic resemblance to classical FAP and Lynch syndrome. Adenomas, serrated adenomas, and hyperplastic polyps can be seen in MAP patients.
The recommended upper endoscopic surveillance interval can be based on the burden of involvement according to Spigelman criteria. Although MAP is the only known biallelic recessive adenoma cancer predisposition syndrome described to date, there are examples of biallelic cases presenting with childhood tumors in which MMR genes are involved.
Refer to the Biallelic mismatch repair deficiency section in the Lynch syndrome section of this summary for more information. Table 8 summarizes the clinical practice guidelines from different professional societies regarding colon surveillance of biallelic MAP. Many extracolonic cancers have been reported in patients with MAP including gastric, small intestinal, endometrial, liver, ovarian, bladder, thyroid, and skin cancers melanoma, squamous epithelial, and basal cell carcinomas.
A registry study from the United Kingdom and the Netherlands explored incidence of duodenal polyps and duodenal cancer in a group of patients with MAP who were undergoing regular duodenal surveillance. Eighty-four percent of patients had Spiegelman stage I or stage II polyposis at first detection of polyps, with no patients with stage IV polyposis and no high-grade dysplasia detected.
In subsequent surveillance only two patients progressed to Spiegelman stage IV polyposis, after 3. Camargo, F. YAP1 increases organ size and expands undifferentiated progenitor cells. Ma, X. MacArthur, J. Nucleic Acids Res. Seshagiri, S. Recurrent R-spondin fusions in colon cancer. Song, F. Identification of a melanoma susceptibility locus and somatic mutation in TET2. Carcinogenesis 35 , — Eeles, R. Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.
Michailidou, K. Association analysis identifies 65 new breast cancer risk loci. Nature , 92—94 Schunkert, H. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Scott, L. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science , — Al Olama, A. A meta-analysis of 87, individuals identifies 23 new susceptibility loci for prostate cancer.
Timofeeva, M. Influence of common genetic variation on lung cancer risk: meta-analysis of 14 cases and 29 controls. Shete, S. Genome-wide association study identifies five susceptibility loci for glioma. Bishop, D. Genome-wide association study identifies three loci associated with melanoma risk. Sapkota, Y. Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism.
Cannon-Albright, L. Assignment of a locus for familial melanoma, MLM, to chromosome 9pp Hussussian, C. Germline p16 mutations in familial melanoma. Seoane, J. Cell Biol. Jung, B. Gastroenterology , 36—52 Guda, K. Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers. Groden, J. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 66 , — Saharia, A.
FEN1 ensures telomere stability by facilitating replication fork re-initiation. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. Liu, J. Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. Paternoster, L. Multi-ancestry genome-wide association study of 21, cases and 95, controls identifies new risk loci for atopic dermatitis.
Laken, S. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Niell, B. Genetic anthropology of the colorectal cancer-susceptibility allele APC IK: evidence of genetic drift within the Ashkenazim. Karami, S. Telomere structure and maintenance gene variants and risk of five cancer types. Cancer , — Congrains, A.
ANRIL: molecular mechanisms and implications in human health. Identification of focally amplified lineage-specific super-enhancers in human epithelial cancers. Rheinbay, E. Discovery and characterization of coding and non-coding driver mutations in more than 2, whole cancer genomes. Iotchkova, V. Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits. Yang, J. Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index.
Bhatia, G. Subtle stratification confounds estimates of heritability from rare variants. Zhong, H. Bias-reduced estimators and confidence intervals for odds ratios in genome-wide association studies. Biostatistics 9 , — Cheetham, S. Long noncoding RNAs and the genetics of cancer. Popejoy, A. Genomics is failing on diversity. Nelson, M. The support of human genetic evidence for approved drug indications. Li, H. Fast and accurate short read alignment with Burrows-Wheeler transform.
Bioinformatics 25 , — Jun, G. An efficient and scalable analysis framework for variant extraction and refinement from population-scale DNA sequence data. Genome Res. Browning, B. Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies. A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data.
Bioinformatics 27 , — A map of human genome variation from population-scale sequencing. Manichaikul, A. Robust relationship inference in genome-wide association studies. Bioinformatics 26 , — Laurie, C. Quality control and quality assurance in genotypic data for genome-wide association studies. Bycroft, C. Chang, C. Gigascience 4 , 7 Price, A. To find one near you, search the National Society of Genetic Counselors. Your family history may give you clues that Lynch syndrome runs in your family and you would benefit from getting tested:.
Although 23andMe has brought some awareness to hereditary colorectal cancer, it does not offer any tests that look for Lynch genes.
Costs of genetic testing can vary depending on several factors including insurance plan, personal cancer history, family health history, and the genetic test provider. Learn more about genetic testing costs for Lynch syndrome.
Henry Lynch, who devoted his career to studying nonpolyposis colorectal cancer, discovered a strain of genes that led to an increased risk of certain cancers, with colorectal cancer carrying the greatest risk. His discoveries have led to increased awareness and prevention of many cancers. Although the two hereditary conditions are very similar, what defines them is what makes them different. Lynch-related cancers are defined by mutations in a gene, whereas family history and other criteria determine what is considered HNPCC.
Lynch syndrome from the Cleveland Clinic. The diagnosis of Lynch syndrome can be scary, but knowledge is power! The sooner you know if you carry a Lynch syndrome gene, the more aggressive you can be to prevent cancer. Not everyone who is diagnosed with Lynch syndrome will get cancer, but everyone with Lynch syndrome carries a higher risk for certain cancers.
If you have Lynch syndrome, it is critical to notify all of your doctors so you can follow an aggressive cancer prevention plan. Read more about previvors in Beyond Blue. There are many resources available to help you! The American Society of Clinical Oncology recommends these general screening and risk-reduction guidelines for Lynch syndrome patients:.
Screening for other cancers associated with Lynch syndrome may be recommended depending on your family history, though the effectiveness of such screening remains unproven. Consideration of daily aspirin, which may be linked to a reduced risk of colorectal cancer and possibly other cancers in individuals with Lynch syndrome.
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