Li-Fraumeni Syndrome
Radiation-induced G1 arrest is not defective in fibroblasts from Li-Fraumeni families without TP53 mutations. (1/153)
Radiation-induced G1 arrest was studied in four classes of early passage skin fibroblasts comprising 12 normals, 12 heterozygous (mut/wt) TP53 mutation-carriers, two homozygous (mut/-) TP53 mutation-carriers and 16 strains from nine Li-Fraumeni syndrome or Li-Fraumeni-like families in which no TP53 mutation has been found, despite sequencing of all exons, exon-intron boundaries, 3' and 5' untranslated regions and promoter regions. In an assay of p53 allelic expression in yeast, cDNAs from these non-mutation strains behaved as wild-type p53. Using two different assays, we found G1 arrest was reduced in heterozygous strains with mis-sense mutations and one truncation mutation, when compared to the range established for the normal cells. Heterozygous strains with mutations at splice sites behaved like normal cells, whilst homozygous (mut/-) strains showed either extremely reduced, or no, arrest. Strains from all nine non-mutation families gave responses within the normal range. Exceptions to the previously reported inverse correlation between G1 arrest and clonogenic radiation resistance were observed, indicating that these phenotypes are not strictly interdependent. (+info)Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome. (2/153)
We have analysed Li-Fraumeni syndrome families, previously shown to be negative for mutations in TP53, for mutations to the tumour suppressor genes PTEN and CDKN2. These genes function in cell cycle progression or are mutated in a variety of tumours. We have detected no mutations in the family members tested. (+info)p53 compound heterozygosity in a severely affected child with Li-Fraumeni syndrome. (3/153)
The Li-Fraumeni Syndrome (LFS) is a rare, dominantly inherited syndrome that features high risk of cancers in childhood and early adulthood. Affected families tend to develop bone and soft tissue sarcomas, breast cancers, brain tumors, leukemias, and adrenocortical carcinomas. In some kindreds, the genetic abnormality associated with this cancer phenotype is a heterozygous germline mutation in the p53 tumor suppressor gene. Recently, we identified one patient who presented in early childhood with multiple primary cancers and who harbored three germline p53 alterations (R156H and R267Q on the maternal allele and R290H on the paternal allele). To classify the biologic effects of these alterations, functional properties of each of the p53 mutants were examined using in vitro assays of cellular growth suppression and transcriptional activation. Each amino acid substitution conferred partial or complete loss of wild-type p53 function, but the child completed normal embryonic development. This observation has not been previously reported in a human, but is consistent with observations of normal embryogenesis in p53-deficient mice. (+info)Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors. (4/153)
We have analyzed a panel of 14 cases of childhood adrenocortical tumors unselected for family history and have identified germline TP53 mutations in >80%, making this the highest known incidence of a germline mutation in a tumor-suppressor gene in any cancer. The spectrum of germline TP53 mutations detected is remarkably limited. Analysis of tumor tissue for loss of constitutional heterozygosity, with respect to the germline mutant allele and the occurrence of other somatic TP53 mutations, indicates complex sequences of genetic events in a number of tumors. None of the families had cancer histories that conformed to the criteria for Li-Fraumeni syndrome, but, in some families, we were able to demonstrate that the mutation had been inherited. In these families there were gene carriers unaffected in their 40s and 50s, and there were others with relatively late-onset cancers. These data provide evidence that certain TP53 alleles confer relatively low penetrance for predisposition to the development of cancer, and they imply that deleterious TP53 mutations may be more frequent in the population than has been estimated previously. Our findings have considerable implications for the clinical management of children with andrenocortical tumors and their parents, in terms of both genetic testing and the early detection and treatment of tumors. (+info)Human cells compromised for p53 function exhibit defective global and transcription-coupled nucleotide excision repair, whereas cells compromised for pRb function are defective only in global repair. (5/153)
After exposure to DNA-damaging agents, the p53 tumor suppressor protects against neoplastic transformation by inducing growth arrest and apoptosis. A series of investigations has also demonstrated that, in UV-exposed cells, p53 regulates the removal of DNA photoproducts from the genome overall (global nucleotide excision repair), but does not participate in an overlapping pathway that removes damage specifically from the transcribed strand of active genes (transcription-coupled nucleotide excision repair). Here, the highly sensitive ligation-mediated PCR was employed to quantify, at nucleotide resolution, the repair of UVB-induced cyclobutane pyrimidine dimers (CPDs) in genetically p53-deficient Li-Fraumeni skin fibroblasts, as well as in human lung fibroblasts expressing the human papillomavirus (HPV) E6 oncoprotein that functionally inactivates p53. Lung fibroblasts expressing the HPV E7 gene product, which similarly inactivates the retinoblastoma tumor-suppressor protein (pRb), were also investigated. pRb acts downstream of p53 to mediate G(1) arrest, but has no demonstrated role in DNA repair. Relative to normal cells, HPV E6-expressing lung fibroblasts and Li-Fraumeni skin fibroblasts each manifested defective CPD repair along both the transcribed and nontranscribed strands of the p53 and/or c-jun loci. HPV E7-expressing lung fibroblasts also exhibited reduced CPD removal, but only along the nontranscribed strand. Our results provide striking evidence that transcription-coupled repair, in addition to global repair, are p53-dependent in UV-exposed human fibroblasts. Moreover, the observed DNA-repair defect in HPV E7-expressing cells reveals a function for this oncoprotein in HPV-mediated carcinogenesis, and may suggest a role for pRb in global nucleotide excision repair. (+info)Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. (6/153)
The hCHK2 gene encodes the human homolog of the yeast Cds1 and Rad53 G2 checkpoint kinases, whose activation in response to DNA damage prevents cellular entry into mitosis. Here, it is shown that heterozygous germ line mutations in hCHK2 occur in Li-Fraumeni syndrome, a highly penetrant familial cancer phenotype usually associated with inherited mutations in the TP53 gene. These observations suggest that hCHK2 is a tumor suppressor gene conferring predisposition to sarcoma, breast cancer, and brain tumors, and they also provide a link between the central role of p53 inactivation in human cancer and the well-defined G2 checkpoint in yeast. (+info)Elevated frequency and functional activity of a specific germ-line p53 intron mutation in familial breast cancer. (7/153)
Previous studies have determined that the frequency of germ-line p53 mutations in familial breast cancer patients is 1% or less, but these reports have not investigated the importance of polymorphic intron base changes in the p53 gene. Therefore, we investigated the frequency of both exon and intron germ-line p53 base changes in 42 breast cancer patients with a strong family history of breast cancer. The mean age of presentation of these patients was 44.0 years (range, 29-69), and 12 of 42 (29%) were of known Ashkenazi ancestry. Purified DNA obtained from the 42 index cases was screened for germ-line p53 mutations in exons 2-11 and surrounding introns using a combination of intron based primers for PCR-single strand conformation polymorphism analysis, direct sequencing, and microarray sequencing using the Affymetrix p53 gene chip methodology. Morphological analysis of apoptosis and cell survival determination were performed on EBV-immortalized lymphoblastoid cell lines from two patients with the p53 intron 6 mutation. A germ-line mutation in the p53 gene at nucleotide 13964 with a G to C base change (13964GC) was identified in 3 of 42 (7.1%) hereditary breast cancer patients. Two patients were heterozygous for this mutation, and one patient had a homozygous mutation. In comparison, 0 of 171 (0%) of sporadic breast cancer patients had the p53 13964GC mutation (P = 0.0003). We found that 0 of 42 (0%) of these hereditary breast cancer patients had other germ-line p53 mutation in exons 2-11. However, pedigree analysis demonstrated that all three patients had strong family histories of multiple types of cancers consistent with Li-Fraumeni syndrome but with late age of onset. Comprehensive BRCA1 and BRCA2 nucleotide analysis from patients with the p53 13964GC mutation revealed no concomitant deleterious BRCA1 or BRCA2 mutations, although they were found in the other hereditary breast cancer patients. Functional analysis of two immortalized lymphoblastoid cell lines derived from patients with the p53 13964GC mutation demonstrated prolonged in vitro survival in response to cisplatinum treatment and showed decreased chemotherapy-induced apoptosis. Immunohistochemical analysis of breast tumors from these patients revealed high levels of mutant p53 protein, suggesting a functional mutation in the p53 gene. In summary, we have identified a single p53 intron mutation in familial breast cancer patients that is present at elevated frequency and has functional activity. (+info)Genomic alterations associated with loss of heterozygosity for TP53 in Li-Fraumeni syndrome fibroblasts. (8/153)
Studies of Li-Fraumeni syndrome fibroblasts heterozygous for germline TP53 mutations have shown that loss of heterozygosity (LOH) occurs during passaging and is associated with genomic instability, such as chromosomal aberrations and aneuploidy to investigate the genomic changes associated with LOH in Li-Fraumeni (LF) fibroblasts, we have analysed cell strains at increasing population doublings (PD) using Comparative Genomic Hybridization (CGH). We have looked at three groups of cell strains: LF mutation-carrying strains which showed LOH for TP53, LF mutation-carrying strains which did not show LOH, and strains from normal individuals. Using CGH, we have detected loss of distinct chromosomal regions associated with LOH in 4 out of 5 mutation-carrying strains. In particular we have found loss of chromosomal regions containing genes involved in cell cycle control or senescence, including loss of 9p and 17p in these strains. Other recurrent changes included loss of chromosomes 4q and 6q, regions shown to contain one or more tumour suppressor genes. No genomic alterations were detected at cumulative PD in the normal strains or in the LF mutation-carrying strains which did not show LOH for TP53. We have also analysed the three groups of strains for microsatellite instability and somatic TP53 mutations, and have found genetic alterations in only one strain. (+info)Li-Fraumeni Syndrome (LFS) is a rare, hereditary cancer predisposition syndrome. It is characterized by a high risk of developing multiple types of cancers throughout an individual's lifetime. The condition is caused by mutations in the TP53 gene, which plays a crucial role in suppressing tumor growth and maintaining genomic stability.
Individuals with Li-Fraumeni Syndrome have an increased risk of developing various malignancies, including:
1. Sarcomas (soft tissue and bone cancers) - most commonly occurring before the age of 45
2. Breast cancer - often diagnosed at a younger age than sporadic cases
3. Leukemias (blood cancers)
4. Brain tumors, particularly gliomas and medulloblastomas
5. Adrenocortical carcinoma (a rare type of cancer affecting the adrenal glands)
6. Other cancers such as lung, melanoma, and gastrointestinal malignancies
Li-Fraumeni Syndrome is typically inherited in an autosomal dominant manner, meaning that a person has a 50% chance of inheriting the mutated gene from an affected parent. However, de novo (new) mutations can also occur, resulting in individuals with LFS who do not have a family history of the condition.
Due to the high risk of cancer development, individuals with Li-Fraumeni Syndrome require close surveillance and early intervention strategies to manage their cancer risk effectively. Regular screenings, such as magnetic resonance imaging (MRI), computerized tomography (CT) scans, and mammograms, are often recommended for early detection and treatment of potential malignancies.
A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.
For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.
It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.
Li-Fraumeni syndrome
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CHEK2
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Osteosarcoma
Germline mutation
Comparative oncology
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Li-Fraumeni syndrome - Wikipedia
Li-Fraumeni syndrome: MedlinePlus Genetics
Li-Fraumeni Syndrome: Practice Essentials, Pathophysiology, Epidemiology
Li-Fraumeni syndrome - SNPedia
Precision Medicine for Individuals with Li-Fraumeni Syndrome - NCI
CHEK2 is not a Li-Fraumeni syndrome gene: time to update public resources | Journal of Medical Genetics
Absence of germline p16 INK4a alterations in p53 wild type Li-Fraumeni syndrome families | Journal of Medical Genetics
TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome | Oncotarget
Nutrition - Li-Fraumeni Syndrome Association
li fraumeni like syndrome criteria
NIH | Living LFS: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome: TP53 and Beyond
Uncategorized | Living LFS: Li-Fraumeni Syndrome
LEAD | Living LFS: Li-Fraumeni Syndrome
The Research Team | Li-Fraumeni Syndrome Study
PCO, Li-Fraumeni Syndrome a snaha o tehotenstvo - Sanatórium Helios
Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1<...
Common Breast Problems And What To Do About Them - HealthStatus
Pediatric Breast Disorders: Background, Embryology and Breast Development, Congenital Breast Anomalies
Who can get brain cancer? Risk factors, genetics, and more
Is Rhabdomyosarcoma Soft Tissue Sarcoma? 7 Symptoms, 4 Stages
Acute Myeloid Leukemia (AML) (for Parents) - Aetna Better Health of Kentucky (Medicaid)
VCV000133282.3 - ClinVar - NCBI
What Is the Childhood Leukemia Survival Rate Per Age Group?
Osteosarcoma | Johns Hopkins Medicine
Fibrosarcoma: Symptoms, Treatment, Risks and More
Surveillance imaging and early surgical intervention for improved CNS tumor outcomes in children with Li-Fraumeni syndrome:...
The 'thousand-dollar genome': an ethical exploration | European Journal of Human Genetics
TP5319
- Many individuals with Li-Fraumeni syndrome have been shown to be heterozygous for a TP53 mutation. (wikipedia.org)
- Unique Brazilian mutation: Although other mutations leading to Li-Fraumeni syndrome have been found outside the DNA-binding domain, a mutation at codon 337 of the tetramerization domain of TP53 has shown a particularly high frequency. (wikipedia.org)
- citation needed] Dominant negative mutations: Most individuals with Li-Fraumeni syndrome are heterozygous for a mutant TP53 gene, and some p53 mutants can inhibit the function of the wild-type p53 in a dominant negative manner. (wikipedia.org)
- Li-Fraumeni syndrome is associated with mutations in the TP53 gene. (medlineplus.gov)
- Nearly three-quarters of families with Li-Fraumeni syndrome and about one-quarter with Li-Fraumeni-like syndrome have germline mutations in the TP53 gene. (medlineplus.gov)
- A few families with cancers characteristic of Li-Fraumeni syndrome and Li-Fraumeni-like syndrome do not have TP53 mutations. (medlineplus.gov)
- For a cancer to develop in Li-Fraumeni syndrome, a mutation involving the other copy of the TP53 gene must occur in the body's cells during a person's lifetime. (medlineplus.gov)
- Li-Fraumeni syndrome (LFS) is a rare autosomal dominant syndrome in which patients are predisposed to cancer due to mutations in the TP53 gene. (medscape.com)
- [ 2 ] The following are the criteria for classic Li-Fraumeni syndrome, Li-Fraumeni-like syndrome, and the Chompret criteria, which provide guidelines for consideration of TP53 genetic testing. (medscape.com)
- A germline mutation of the TP53 tumor suppressor gene results in Li-Fraumeni syndrome. (medscape.com)
- Li-Fraumeni syndrome has been linked to pathogenic germline mutations of the tumor suppressor gene TP53 . (medscape.com)
- The syndrome is most commonly caused by mutations in the p53 tumor suppressor gene TP53 . (snpedia.com)
- Li-Fraumeni Syndrome (LFS) is a rare disorder that predisposes individuals to multiple, early-onset cancers throughout their lives, and it is caused by pathogenic, or likely pathogenic (P/LP) germline variants in the tumor protein 53 gene ( TP53 ). (cancer.gov)
- Somatic mutations of TP53 are among the most common in cancer and germline mutations of TP53 (usually missense) can cause Li-Fraumeni syndrome (LFS). (oncotarget.com)
- Ms. Frone also serves on the Li-Fraumeni Syndrome Association Genetic Counseling Advisory Group, and she is the Coordinator of the ClinGen TP53 Variant Curation Expert Panel which is helping to ensure that genetic test results for LFS are properly and consistently interpreted. (cancer.gov)
- Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by germline mutations in the TP53 gene . (bvsalud.org)
- She also serves on the genetic counseling advisory committee for the Li-Fraumeni Syndrome Association, is a member of the ClinGen TP53 Variant Curation Expert Panel, and is faculty for City of Hope's Intensive Course in Genetic Cancer Risk Assessment . (cityofhope.org)
- Li-Fraumeni syndrome experts consider that TP53 is the only gene causing this multi-cancer syndrome. (bmj.com)
- 5% of GBMs and include disorders such as Li-Fraumeni syndrome (TP53 mutation), Turcot syndrome (biallelic mutation of mismatch repair genes), and neurofibromatosis type 1 (NF1 mutation). (medscape.com)
Neurofibromatosis2
- Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. (nih.gov)
- Many familial cancer syndromes increase glioma risk including neurofibromatosis 1 (NF1), NF2, tuberous sclerosis 1 (TSC1), TSC2, Lynch Syndrome, and Li-Fraumeni syndrome. (cdc.gov)
Sarcoma3
- This syndrome is also known as the sarcoma, breast, leukaemia and adrenal gland (SBLA) syndrome. (wikipedia.org)
- Li-Fraumeni syndrome may be suspected in patients who develop a sarcoma before age 45, especially if any close relatives have also been diagnosed with cancer by that age or with a sarcoma at any age. (snpedia.com)
- 4-6 Families adhering to the classical definition of the syndrome include those in which one subject, usually the proband, is diagnosed with a sarcoma before 45 years of age, and has a first degree relative with cancer before 45 years of age, and another first or second degree relative in the same parental lineage with any cancer diagnosed under 45 years of age or with sarcoma at any age. (bmj.com)
CHEK24
- LFS2: mutations in CHEK2 Another variant of Li-Fraumeni that remains somewhat controversial, is a mutation of the CHEK2 (or CHK2) gene. (wikipedia.org)
- The gene-disease relationship for CHEK2 remains listed as 'Li-Fraumeni syndrome 2' in public resources such as OMIM and MONDO, despite published evidence to the contrary, causing frustration among Li-Fraumeni syndrome (LFS) clinical experts. (bmj.com)
- These findings emphasise the need to replace 'Li-Fraumeni syndrome 2' as the CHEK2 -associated disease name, thereby limiting potential confusion. (bmj.com)
- CHEK2 is a moderate risk cancer predisposition gene, but is currently listed as "Li-Fraumeni syndrome 2" in public resources used by medical geneticists and patients. (bmj.com)
Cancers3
- Li-Fraumeni syndrome is characterized by early onset of cancer, a wide variety of types of cancers, and development of multiple cancers throughout one's life. (wikipedia.org)
- This syndrome is found in family members who are predisposed to developing sarcomas, such as RMS and other cancers ( breast cancer , leukemia ). (medicinenet.com)
- Hereditary cancer syndromes are often characterized by the onset of cancer at an early age (typically before 50 years of age) and multiple, multifocal, and/or similar cancers in a single individual or in one or more closely related family members. (arupconsult.com)
Genetic syndromes3
- KBG syndrome is a rare neurodevelopmental disorder caused by heterozygous variants in the ANKRD11 gene and is one of the most prevalent genetic syndromes. (bmj.com)
- He is co-director of the Georgetown University Medical Center Adult Hemophilia Treatment Center and has particular clinical and research interest in bleeding and clotting disorders, bone failure and aplastic anemia, leukemia, and genetic syndromes of cancer predisposition. (medstarhealth.org)
- These genetic syndromes are caused by hereditary errors, called mutations, in the genetic code or DNA. (cancercenter.com)
Mutations1
- The syndrome is linked to germline mutations of the p53 tumor suppressor gene, which encodes a transcription factor (p53) that normally regulates the cell cycle and prevents genomic mutations. (wikipedia.org)
Autosomal dominant3
- Li-Fraumeni syndrome is a rare, autosomal dominant, hereditary disorder that predisposes carriers to cancer development. (wikipedia.org)
- Li-Fraumeni syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing cancer. (medlineplus.gov)
- Li-Fraumeni syndrome (LFS) is a hereditary tumor that exhibits autosomal dominant inheritance. (elsevierpure.com)
Germline1
- Li-Fraumeni syndrome: not a straightforward diagnosis anymore-the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis. (medlineplus.gov)
Brain tumors1
- Having this syndrome increases the risk of breast cancer, leukemia , brain tumors, and connective tissue cancer. (medicalnewstoday.com)
Cancer genomics1
- Nehoray joined City of Hope's Division of Clinical Cancer Genomics in 2012, where she provides cancer genetics services for patients and families suspected of having a hereditary predisposition to cancer, focusing on Li-Fraumeni syndrome and clonal hematopoiesis of indeterminate potential. (cityofhope.org)
Gene4
- Most people with Li-Fraumeni syndrome inherit an altered copy of the gene from an affected parent . (medlineplus.gov)
- E ditor -The Li-Fraumeni syndrome (LFS) is a rare familial cancer syndrome that predisposes gene carriers to the development of diverse early onset malignancies, including soft tissue sarcomas, osteosarcomas, adrenocortical carcinomas, brain tumours, breast carcinomas, and leukaemia, 1-3 with other cancer types occurring less frequently. (bmj.com)
- A change in this gene increases the risk of Cowden's syndrome. (medicalnewstoday.com)
- Changes in this gene lead to Li-Fraumeni syndrome. (medicalnewstoday.com)
Genes and syndromes1
- Refer to the Genes Tested table below for more details regarding the genes and syndromes included on the Hereditary Prostate Cancer Panel. (arupconsult.com)
Lynch Syndrome2
- For individuals with a suspected diagnosis of Lynch syndrome, consider testing specific to Lynch syndrome as some relevant variants are not included on this panel. (arupconsult.com)
- Refer to Lynch Syndrome - Hereditary Nonpolyposis Colorectal Cancer (HNPCC) for more information. (arupconsult.com)
Genetics2
- The Clinical Genetics Branch (CGB) Li-Fraumeni syndrome (LFS) study team includes a group of experts who each bring their own special perspective to the project. (cancer.gov)
- We are a translational human genetics and genomics research laboratory studying mechanisms of tumor formation in inherited cancer syndromes. (upenn.edu)
Classic Li-Fraumeni1
- A very similar condition called Li-Fraumeni-like syndrome shares many of the features of classic Li-Fraumeni syndrome. (medlineplus.gov)
Individuals3
- There is potential for multiple primary sites of cancer during the lifetime of individuals with this agressive cancer predisposition syndrome. (medscape.com)
- His thesis, "Coming of age with Li-Fraumeni syndrome (LFS): Perspectives of young people and health professionals," and resultant publications were some of the very first studies aimed at understanding the psychosocial challenges faced by individuals with LFS. (cancer.gov)
- LFS Association provides a wide range of information, advocacy and support services for individuals and families with Li Fraumeni Syndrome. (myriad.com)
Breast1
- The second mutation often occurs in cells within the breast, bone, or muscle tissue, typically leading to the tumors common in Li-Fraumeni syndrome. (medlineplus.gov)
Clinical1
- She is especially interested in hereditary cancer disorders and has devoted her career to multidisciplinary clinical and epidemiological studies of complex cancer predisposition syndromes. (cancer.gov)
Chompret1
- Chompret A. The Li-Fraumeni syndrome. (medlineplus.gov)
BRCA11
- Cases include cancer patients, one with a BRCA1 mutation and another with Li-Fraumeni Syndrome. (genome.gov)
Disorder5
- Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults. (medlineplus.gov)
- The disorder is named after Frederick Pei Li and Joseph F. Fraumeni, U.S. physicians who originally described the syndrome. (snpedia.com)
- While Li-Fraumeni syndrome is typically a rare disorder, a founder effect has resulted in 1 person in 375 from Southern Brazil carrying the R337H variant. (snpedia.com)
- She is particularly well known for her research related to a rare cancer susceptibility disorder called dyskeratosis congenita and has discovered several genes that cause this specific syndrome. (cancer.gov)
- One of which is a is very rare genetic disorder called Li-fraumeni syndrome. (standard.net)
Variants1
- Distinct NSCLC EGFR Variants in a Family With Li-Fraumeni Syndrome: Case Report. (nih.gov)
Risk4
- Although most hereditary family cancer syndromes involve 1 or 2 specific tumor types, members of Li-Fraumeni syndrome kindreds are at risk for a wide range of malignancies. (medscape.com)
- A rare inherited syndrome that includes skeletal problems, rashes, short stature, and an increased risk of developing osteosarcoma. (hopkinsmedicine.org)
- How much these conditions increase the risk of cancer and where in the body the cancer develops are different, depending on which syndrome you have. (cancercenter.com)
- There is a wide variety of hereditary cancer syndromes linked to increased risk of developing pancreatic cancer, including those below. (cancercenter.com)
Deficiency1
- having AIDS (Acquired immune deficiency syndrome) and Epstein-Barr virus infection at the same time. (curesarcoma.org)
Surveillance2
- Surveillance imaging and early surgical intervention for improved CNS tumor outcomes in children with Li-Fraumeni syndrome: Children's National Hospital experience and literature review. (bvsalud.org)
- Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis. (cityofhope.org)
Disorders1
- She has an interest in inherited cancer predisposition syndromes, particularly those that can affect children and adolescents, such as telomere biology disorders and LFS. (cancer.gov)
Childhood2
- It was named after two American physicians, Frederick Pei Li and Joseph F. Fraumeni, Jr., who first recognized the syndrome after reviewing the medical records and death certificates of 648 childhood rhabdomyosarcoma patients. (wikipedia.org)
- Some genes are also associated with autosomal recessive childhood cancer predisposition or other syndromes. (arupconsult.com)
Patients2
- MDAnderson recently announced the beginning of a clinic for patients with Li-Fraumeni Syndrome at their cancer center in Houston, Texas. (livinglfs.org)
- Retrospective investigation of hereditary syndromes in patients with medulloblastoma in a single institution. (cdc.gov)