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Neoplastic Syndromes, Hereditary (11):
Recent article
Neoplastic Syndromes, Hereditary
Familial Cancer (10)S1 2011
Abstract
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Abstract
Well-differentiated thyroid cancer accounts for 95% of thyroid malignancies. In contrast to medullary thyroid carcinoma, in which about 25% are familial, only 5% of follicular cell-derived thyroid carcinomas are a component of a familial cancer syndrome. The familial follicular cell-derived tumors o...
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PMID: 20966648
PDF is available here.
PDF is available here.
Abstract
In recent years, the clinical validation of molecular targeted therapies inhibiting the action of pathogenic tyrosine kinase (TK) has been one of the most exciting developments in cancer research. In this context, medullary thyroid carcinoma (MTC) represents a promising model. It is...
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PMID: 20712590
PDF is available here.
PDF is available here.
Abstract
Many hematologic malignancies have an underlying heritable component. Although not as well characterized as the acquired genetic abnormalities that define important prognostic and therapeutic subgroups of myeloid and lymphoid neoplasms, investigations are beginning to unravel the role of germline ge...
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PMID: 20816581
PDF is available here.
PDF is available here.
Abstract
Abstract
25-30% of families fulfilling the criteria for hereditary diffuse gastric cancer have germline mutations of the CDH1 (E-cadherin) gene. In light of new data and advancement of technologies, a multidisciplinary workshop was convened to discuss genetic testing, surgery, endoscopy and p...
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PMID: 20591882
PDF is available here.
PDF is available here.
Abstract
The British Society of Gastroenterology (BSG) and the Association of Coloproctology for Great Britain and Ireland (ACPGBI) commissioned this update of the 2002 guidance. The aim, as before, is to provide guidance on the appropriateness, method and frequency of screening for people at moderate and hi...
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PMID: 20427401
PDF is available here.
PDF is available here.
Abstract
Geneticists estimate that 5% to 10% of all cancers diagnosed in the pediatric age range occur in children born with a genetic mutation that directly increases their lifetime risk for neoplasia. However, despite the fact that only a fraction of cancers in children occur as a result of an identified i...
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PMID: 20186103
PDF is available here.
PDF is available here.
Annales d'Endocrinologie (71)2 2010
Abstract
We report the clinical and genetic findings in a 23-year-old woman with hyperparathyroidism-jaw tumor syndrome (HPT-JT). The patient had a family history of primary hyperparathyroidism (PHPT) and uterine fibroma in her mother. The patient presented muscle weakness. The diagnosis of PHPT was confirme...
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PMID: 19942209
PDF is available here.
PDF is available here.
Abstract
We also briefly describe the genetic basis of three other inherited states predisposing individuals to endocrine tumors, namely Carney's syndrome, hyperparathyroidism type 2 (HRPT2) and familial isolated pituitary adenoma (FIPA), which are related to inactivating mutations in the PRKAR1-alpha, HRPT2...
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PMID: 20669561
PDF is available here.
PDF is available here.
Abstract
Abstract
Von Hippel-Lindau syndrome (VHLS) is an autosomal dominant familial cancer syndrome arising from germ-line inactivation of the VHL gene on the short arm of chromosome 3. VHLS manifests in a myriad of hyper-vascular tumors of both benign and malignant nature. Incidence of VHLS is roughly 1 in 36,000...
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PMID: 20687511
PDF is available here.
PDF is available here.
Igiene e sanita pubblica (66)1 2010
Abstract
The development of genetic epidemiology in oncology has made possible more frequent analysis of high risk groups, allowing the development of promising susceptibility indicators. The main public health implications include screening and new perspectives for pharmacogenetics and nutrigenomics. The st...
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PMID: 20393614
PDF is available here.
PDF is available here.
Abstract
Abstract
Pituitary adenomas were previously thought to be rare. However, a recent cross-sectional study conducted in Liège, Belgium, showed that clinically apparent pituitary adenomas were present in about 1 in 1000 inhabitants, which is 4 to 5 times the previously reported prevalence. Pituitary adenomas ar...
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PMID: 20669636
PDF is available here.
PDF is available here.
Abstract
Genetic testing for adult-onset diseases is now available. One such test is for the mutations present in the BRCA gene that result in a significantly higher risk for the development of breast cancer or ovarian cancer. Women who have one of these mutations face difficult choices in terms of increased...
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PMID: 19683094
PDF is available here.
PDF is available here.
Abstract
PTG can be performed in patients with HDGC with a low rate of serious complications. Methods of reconstruction incorporating a pouch reservoir and preservation of the postgastric branches of the vagus nerves need to be explored. More refined penetrance estimates, effective screening protocols, and l...
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PMID: 19408054
PDF is available here.
PDF is available here.
Minerva endocrinologica (34)2 2009
Abstract
Adrenocortical carcinomas (ACCs) are rare tumors associated with poor prognosis. Although surgery is the mainstay of treatment for this cancer, most patients will experience a recurrence of their tumor. Adjuvant therapies currently include mitotane, radiotherapy and chemotherapy, but responses to th...
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PMID: 19471238
PDF is available here.
PDF is available here.
Abstract
The past 15 years have seen rapid advances in both our understanding of hereditary melanoma genetics and the technologies that enable scientists to make discoveries. Despite great efforts by many groups worldwide, other high-risk melanoma loci besides CDKN2A still remain elusive. A p...
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PMID: 19464594
PDF is available here.
PDF is available here.
Abstract
médecine/sciences (25)4 2009
Abstract
Minerva endocrinologica (34)1 2009
Abstract
Thyroid carcinoma is the most common endocrine neoplasm and the seventh most frequent human malignancy. It can be distinguished into differentiated and undifferentiated. Differentiated tumors include those arising from thyrocytes, i.e. papillary and follicular carcinoma, while medullary carcinoma or...
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PMID: 19209125
PDF is available here.
PDF is available here.
Oncology Nursing Forum (36)2 2009
Abstract
Although most participants were not carriers of a mutation, the presence of other risk factors for breast and ovarian cancer dictates continued cancer surveillance. At-risk women may not be informed adequately about cancer surveillance. IMPLICATIONS FOR NURSING: Healthcare providers should be aware...
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PMID: 19273395
PDF is available here.
PDF is available here.
Abstract
Abstract
Abstract
Over 1,900 colorectal tumors will arise in association with a hereditary colorectal cancer syndrome in Spain in 2009. The genetic defects responsible for the most common syndromes have been discovered in recent years. Genetic testing helps diagnose affected individuals and allows identification of i...
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PMID: 19335048
PDF is available here.
PDF is available here.
Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer (171) 2009
Abstract
Several congenital syndromes caused by germline mutations in tumor suppressor genes predispose to the development of glial tumors. In the last few decades our knowledge about the molecular functions of these genes and the pathogenesis of hereditary tumor syndromes has greatly increased. The most com...
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PMID: 19322539
PDF is available here.
PDF is available here.
Abstract
Abstract
Telomeres, repeat sequences at the ends of chromosomes, are protective chromosomal structures highly conserved from primitive organisms to humans. Telomeres inevitably shorten with every cell cycle, and telomere attrition has been hypothesized to be fundamental to normal senescence of cells, tissues...
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PMID: 20008219
PDF is available here.
PDF is available here.
Abstract
The treatment and medical management of aplastic anemia fundamentally differ between patients with inherited versus acquired marrow failure; however, the diagnosis of an inherited bone marrow failure syndrome is frequently obscure. Recent exciting advances in our understanding of the molecular patho...
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PMID: 20008218
PDF is available here.
PDF is available here.
Abstract
Abstract
Family cancer syndromes: inherited deficiencies in systems for the maintenance of genomic integrity.
Abstract
Familial cancer syndromes have revealed important fundamental features regarding how all cancers arise through destabilization of the genome, such that somatic evolution can select for the disruption of critical cellular coordinating and regulatory features. The authors examine those cellular genes...
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PMID: 19056039
PDF is available here.
PDF is available here.
Abstract
The clinical manifestations of hereditary skin cancer syndromes depend upon the interplay between environmental and genetic factors. Familial melanoma occurs in the setting of hereditary susceptibility, with a complex phenotype of early age of onset, multiple atypical moles, multiple primary melanom...
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PMID: 19056043
PDF is available here.
PDF is available here.
Abstract
Hereditary cancer risk assessment, counseling, and testing are becoming ever more complex as the understanding of the genetic components of disease grows. The demand for highly trained professionals with expertise in this field, such as genetic counselors, is also growing. Surgical oncologists are l...
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PMID: 19056040
PDF is available here.
PDF is available here.
Abstract
Familial thyroid cancer accounts for 25% of medullary thyroid cancer (MTC) and 5% of non-medullary thyroid cancer. All patients who have familial MTC have one of three variants of multiple endocrine neoplasia type 2 that are defined by specific mutations in the rearranged during transfection (RET) p...
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PMID: 19056041
PDF is available here.
PDF is available here.
Abstract
We explore these and other issues. The goal is to provide the surgeon with the information needed to identify patients at risk for carrying identifiable mutations that might lead to the development of breast cancer....
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PMID: 19056042
PDF is available here.
PDF is available here.
Southern Medical Journal (101)12 2008
Abstract
We report a case of a 27-year-old male diagnosed with Turcot's syndrome after an autopsy. The patient survived for more than two decades after his initial presentation with medulloblastoma at the age of five years. Such a long survival is exceptional in patients with this syndrome. Based on the gene...
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PMID: 19005436
PDF is available here.
PDF is available here.
New England Journal of Medicine (359)20 2008
Abstract
Abstract
Abstract
Hereditary and familial forms of kidney cancer are encountered routinely in urologic practice. Discoveries in the genetic and molecular biology of these diseases have had a critical impact on the understanding of kidney cancer pathogenesis in nearly all subtypes of renal cortical neoplasms and their...
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PMID: 18992610
PDF is available here.
PDF is available here.
Abstract
The last 10 years have witnessed a dramatic evolution in our understanding of renal cell carcinoma (RCC) biology, which has led to the development of novel medical therapies and revolutionized the approach to their clinical management. This review considers the genetic basis of RCC and the molecular...
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PMID: 18992611
PDF is available here.
PDF is available here.
Abstract
We assume that a proactive approach to treatment is indicated and desired, recognizing that active surveillance is always an additional option to consider in certain subpopulations such as the elderly or infirm....
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PMID: 18992618
PDF is available here.
PDF is available here.
Abstract
Thyroid carcinomas derived from follicular cells are the most common endocrine malignancies, and papillary thyroid carcinoma (PTC) is the most common type. Although, the majority of papillary and follicular thyroid carcinomas (FTCs) are sporadic, familial forms have been described in recent years. F...
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PMID: 18948764
PDF is available here.
PDF is available here.
Abstract
The occurrence of cylindromas, trichoepitheliomas, and spiradenomas completes the triad for Brooke-Spiegler syndrome (BSS). This combination represents a rare genetic syndrome with tumors expressing adnexal differentiation. Malignant transformation is rare but reported, and surgical excision is warr...
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PMID: 19090338
PDF is available here.
PDF is available here.
Der Chirurg (79)11 2008
Abstract
Der Chirurg (79)11 2008
Abstract
An inherited predisposition to pancreatic cancer (PC) is prevalent in about 3% of PC cases and is currently believed to occur in three distinct clinical settings, (1) hereditary tumour predisposition syndromes with an increased risk of PC such as Peutz-Jeghers syndrome and familial atypical multiple...
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PMID: 18818893
PDF is available here.
PDF is available here.
Der Chirurg (79)11 2008
Abstract
Hereditary thyroid carcinomas are present in about 5% of differentiated (DTC) and 25% of medullary thyroid carcinomas (MTC). They are part of a multiorgan tumour syndrome (e. g. FAP Gardner's syndrome with DTC and MEN 2 syndrome with MTC) or confined to the thyroid gland. Hereditary thyroid carcinom...
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PMID: 18818894
PDF is available here.
PDF is available here.
Der Chirurg (79)11 2008
Abstract
Ten per cent of all breast cancer cases have a strong hereditary component in which half carry a deleterious mutation in the high penetrance genes BRCA1 or BRCA2. These genes confer a lifetime risk of 60-80% for breast cancer and 20-40% for ovarian cancer. Since the identification of these genes in...
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PMID: 18854964
PDF is available here.
PDF is available here.
Abstract
We conclude that familial aggregation of LPDs is common among newly diagnosed patients, varies significantly by diagnosis and contributes meaningfully to the population disease burden....
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PMID: 18729853
PDF is available here.
PDF is available here.
Abstract
Phaeochromocytoma is a rare clinical entity in children. Contrary to traditional teaching, which suggested that 10% of phaeochromocytomas are "familial", a germline mutation has been identified in up to 59% (27/48) of apparently sporadic phaeochromocytomas presenting at 18 years or younger and in 70...
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PMID: 18499773
PDF is available here.
PDF is available here.
Abstract
Our data show that 11p15 LOH is a widespread finding in childhood ACT not related with malignancy, contrary to adult ACT. Alterations in the expression of other genes in the same region (e.g., CDKN1C) may contribute to ACT tumorigenesis.
(c)2008 Elsevier Inc. All rights reserved....
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PMID: 18786438
PDF is available here.
PDF is available here.
Future Oncology (4)4 2008
Abstract
We review recommendations for genetic testing, surveillance and prophylactic surgery in HDGC. Areas for future research are discussed, including development of new screening modalities, optimal timing of prophylactic gastrectomy, identification of additional causative mutations in HDGC, management o...
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PMID: 18684065
PDF is available here.
PDF is available here.
Abstract
We describe a family with five cases of multiple myeloma, three cases of monoclonal gammopathy of undetermined significance (MGUS), and five cases of prostate cancer in two generations. The putative progenitor had progeny with two female partners. The progeny had prostate cancer, multiple myeloma, a...
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PMID: 18614782
PDF is available here.
PDF is available here.
Abstract
The BHD mutation detection rate was 88% (51/58). Of the 23 different germline mutations identified, 13 were novel consisting of: four splice site, three deletions, two insertions, two nonsense, one deletion/insertion, and one missense mutation. We report the first germline missense mutation in BHD c...
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PMID: 18234728
PDF is available here.
PDF is available here.
World Journal of Surgery (32)6 2008
Abstract
Abstract
BACKGROUND: Kidney cancer is not a homogenous entity; it is comprised of many different tumor types, with different biologies and molecular mechanisms leading to disease and therefore different treatment approaches. OBJECTIVE: To describe the genetic basis and biochemical pathways underlying inherit...
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PMID: 18476789
PDF is available here.
PDF is available here.
World Journal of Surgery (32)5 2008
Abstract
An estimated 5% of all non-medullary thyroid cancers are hereditary. If three or more first-degree relatives are affected, there is a greater than 94% chance that these cases are hereditary non-medullary thyroid cancer (HNMTC). Although, the susceptibility gene(s) for HNMTC has not been identified,...
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PMID: 18058169
PDF is available here.
PDF is available here.
Revue medicale suisse (4)155 2008
Abstract
Genetic tumor syndromes reflect an inherited predisposition to develop benign and malignant tumors. Increased frequency of neoplasms within the family or occurring at an early age are clinical clues for a possible underlying genetic susceptibility. Awareness of their associated cutaneous manifestati...
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PMID: 18610722
PDF is available here.
PDF is available here.
Lancet Oncology (9)5 2008
Abstract
As the molecular basis of disease continues to be elucidated, familial cancer syndromes, which consist of a range of neoplastic and non-neoplastic features, are emerging. The usual pathway of referral to a genetics clinic or familial cancer centre is via an oncologist, when high-risk features that s...
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PMID: 18452857
PDF is available here.
PDF is available here.