Genetic insights into familial cancers-- update and recent discoveries

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Genetic insights into familial cancers-- update and recent discoveries is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P356DOI10.1016/S0304-3835(02)00023-X
P698PubMed publication ID12175530

P2093author name stringRoberto Zori
Deborah Marsh
P2860cites workMenin interacts with the AP1 transcription factor JunD and represses JunD-activated transcriptionQ22001458
The lipid phosphatase activity of PTEN is critical for its tumor supressor functionQ22007981
Linkage of ATM to cell cycle regulation by the Chk2 protein kinaseQ22008502
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndromeQ22009558
Novel alternatively spliced isoforms of the neurofibromatosis type 2 tumor suppressor are targeted to the nucleus and cytoplasmic granulesQ22010248
Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndromeQ22011001
The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase RhoQ22254081
Inactivation of menin, a Smad3-interacting protein, blocks transforming growth factor type beta signalingQ24290996
Menin, a gene product responsible for multiple endocrine neoplasia type 1, interacts with the putative tumor metastasis suppressor nm23Q24291124
Patched1 interacts with cyclin B1 to regulate cell cycle progressionQ24291186
Menin interacts directly with the homeobox-containing protein PemQ24291549
The tumor suppressor protein menin interacts with NF-kappaB proteins and inhibits NF-kappaB-mediated transactivationQ24291618
Menin, the product of the MEN1 gene, is a nuclear proteinQ24310070
The BRC repeats in BRCA2 are critical for RAD51 binding and resistance to methyl methanesulfonate treatmentQ24310211
Identification of c-MYC as a target of the APC pathwayQ24310637
Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2Q24313491
The tumor suppressor, PTEN/MMAC1, dephosphorylates the lipid second messenger, phosphatidylinositol 3,4,5-trisphosphateQ24317714
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BRCA1 is secreted and exhibits properties of a graninQ24320316
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Haploinsufficiency of the Pten tumor suppressor gene promotes prostate cancer progressionQ33944717
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Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromesQ34020502
Mortality in neurofibromatosis 1: an analysis using U.S. death certificates.Q34020644
Germline p16 mutations in familial melanomaQ34059915
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GDNF - a stranger in the TGF-beta superfamily?Q34098852
Two hits revisited againQ34131230
Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parentsQ34146220
Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patientsQ34166560
The retinoblastoma gene: a prototypic and multifunctional tumor suppressorQ34174294
The candidate Wilms' tumour gene is involved in genitourinary developmentQ34189819
Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome?Q34232464
The clinical and diagnostic implications of mosaicism in the neurofibromatoses.Q34284543
The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigmQ34331794
Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13.Q34334383
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.Q34334980
Genetics of familial paragangliomas: past, present, and futureQ34369881
Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disordersQ34386474
Fanconi anemia and DNA repairQ34416703
Growth suppression by Lkb1 is mediated by a G(1) cell cycle arrestQ34504424
Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locusQ28236741
Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumpingQ28236877
Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1Q28243243
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34Q28245141
Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancerQ28253384
The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancerQ28256988
Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancerQ28257360
Identification and characterization of the tuberous sclerosis gene on chromosome 16Q28257738
Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinaseQ28258611
Germline mutations in the p16INK4a binding domain of CDK4 in familial melanomaQ28270834
A highly conserved processed PTEN pseudogene is located on chromosome band 9p21Q28273178
Human homolog of patched, a candidate gene for the basal cell nevus syndromeQ28281033
Mutations of chromosome 5q21 genes in FAP and colorectal cancer patientsQ28300256
Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysisQ28300857
Association of BRCA1 with Rad51 in mitotic and meiotic cellsQ28302118
Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancersQ28306997
Positional cloning of the gene for multiple endocrine neoplasia-type 1Q28307577
VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortalityQ28345120
Differential activities of the RET tyrosine kinase receptor isoforms during mammalian embryogenesisQ28354358
The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathwayQ28361936
The NF2 tumor suppressor gene product, merlin, mediates contact inhibition of growth through interactions with CD44Q28363493
Methylation mattersQ28364163
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paragangliomaQ28366764
Tumorigenesis in the multiple intestinal neoplasia mouse: redundancy of negative regulators and specificity of modifiersQ28507960
Vascular abnormalities and deregulation of VEGF in Lkb1-deficient miceQ28594689
Sequential assembly of the nucleotide excision repair factors in vivoQ28610121
WRN mutations in Werner syndromeQ29395498
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paragangliomaQ29614552
Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndromeQ29615538
Identification of the breast cancer susceptibility gene BRCA2Q29616290
DPC4, a candidate tumor suppressor gene at human chromosome 18q21.1Q29616726
Positional cloning of the Werner's syndrome geneQ29618393
Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasmsQ29618586
Identification of the von Hippel-Lindau disease tumor suppressor geneQ29618644
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage ConsortiumQ29619206
The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi JewsQ29619407
Identification and characterization of the familial adenomatous polyposis coli geneQ29620382
Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancerQ48084125
Alleles of the APC gene: an attenuated form of familial polyposisQ48088124
A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressorQ48129277
The tuberous sclerosis complex: a comprehensive reviewQ48354112
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defectsQ49075460
The expression of RET and its multiple splice forms in developing human kidney.Q52195115
The genetics of melanoma: the UK experience.Q52866201
Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene.Q52887165
Different point mutations in the met oncogene elicit distinct biological properties.Q53413979
Allelic imbalance at the LKB1 (STK11) locus in tumours from patients with Peutz-Jeghers' syndrome provides evidence for a hamartoma-(adenoma)-carcinoma sequence.Q54190005
Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC.Q54559294
New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC.Q55033068
Clinical and Molecular Features of the Carney Complex: Diagnostic Criteria and Recommendations for Patient EvaluationQ55982494
Bloom SyndromeQ56482234
Cancer risk associated with germline DNA mismatch repair gene mutationsQ56813769
Sporadic multiple primary melanoma cases:CDKN2Agermline mutations with a founder effectQ56893701
Population-based study of risk of breast cancer in carriers of BRCA2 mutationQ57250754
Increased Risk of Pancreatic Cancer in Melanoma-Prone Kindreds withp16INK4MutationsQ57250780
Allele losses in the region 17q12-21 in familial breast and ovarian cancer involve the wild-type chromosomeQ57266956
Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locusQ57269211
Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancerQ57568035
PTEN is inversely correlated with the cell survival factor Akt/PKB and is inactivated via multiple mechanismsin haematological malignanciesQ57591287
The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysisQ57591340
ONCOGENESIS: Landscaping the Cancer TerrainQ57636195
Localization of the gene for Cowden disease to chromosome 10q22–23Q57694734
Evidence that WT1 mutations in Denys — Drash syndrome patients may act in a dominant-negative fashionQ59662118
The muir-torre syndrome: a rare variant of hereditary nonpolyposis colorectal cancer associated with hmsh2 mutationQ60697108
Mutations predisposing to hereditary nonpolyposis colorectal cancer: Database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal CancerQ61946741
Mutations in the APC tumour suppressor gene cause chromosomal instabilityQ62024148
Confirmation of FWT1 as a Wilms' tumour susceptibility gene and phenotypic characteristics of Wilms' tumour attributable to FWT1Q30338002
Evidence for a familial Wilms' tumour gene (FWT1) on chromosome 17q12–q21Q30338283
Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutationsQ30495361
A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counsellingQ30495391
National Institutes of Health consensus conference: tuberous sclerosis complexQ30596394
Unwinding the molecular basis of the Werner syndromeQ30667559
von Hippel-Lindau diseaseQ30726814
Cancer risk and the ATM gene: a continuing debateQ30871076
Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.Q33256073
Complications of the naevoid basal cell carcinoma syndrome: results of a population based studyQ33595421
Rothmund-Thomson syndrome associated with trisomy 8 mosaicismQ33597538
Gastrointestinal polyposis syndromesQ33599177
Multiple chondromatous hamartomas of the lung: a case report and review of the literature with special reference to Carney syndromeQ33664439
The molecular basis and clinical aspects of Peutz-Jeghers syndromeQ33667996
Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndromeQ33674584
A modifying locus for familial adenomatous polyposis may be present on chromosome 1p35-p36Q33677191
Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytomaQ33682786
Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndromeQ41816411
Identification of germline and somatic mutations affecting the retinoblastoma geneQ41830287
Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndromeQ41983219
Cancer-associated mis-sense and deletion mutations impair p16INK4 CDK inhibitory activityQ42064477
Characterization of tumor-associated Chk2 mutationsQ42495187
Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutationsQ42662265
Regulation of the urokinase-type plasminogen activator gene by the oncogene Tpr-Met involves GRB2.Q42803782
Familial Wilms tumour resulting from WT1 mutation: intronic polymorphism causing artefactual constitutional homozygosityQ43075986
Hamartin and tuberin expression in human tissuesQ43552410
Germline SDHD mutation in familial phaeochromocytomaQ43588788
Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paragangliomaQ43601273
Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis.Q43623240
Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing lossQ43629699
Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD geneQ43629703
The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesisQ44463232
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutationQ45345194
Mutations in the SMAD4/DPC4 gene in juvenile polyposisQ45345229
Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomasQ45345804
Mutations in SDHC cause autosomal dominant paraganglioma, type 3.Q47817141
PTEN and inherited hamartoma-cancer syndromesQ47852476
NF2 gene in neurofibromatosis type 2 patients.Q48007953
Growth retardation and tumour inhibition by BRCA1.Q48066075
A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screeningQ63363987
Exclusion of linkage of loci on chromosome 19 with multiple endocrine neoplasia, type 2Q69900961
Risk estimation and screening in families of patients with medullary thyroid carcinomaQ69912692
Attenuated familial adenomatous polyposis due to a mutation in the 3' part of the APC gene. A clue for understanding the function of the APC proteinQ71131035
Rothmund-Thomson syndrome in siblings: evidence for acquired in vivo mosaicismQ71340549
Molecular genetic investigations of the mechanism of tumourigenesis in von Hippel-Lindau disease: analysis of allele loss in VHL tumoursQ72679743
Genetics of Wilms' tumorQ72898630
Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 geneQ73326054
RET proto-oncogene mutations in multiple endocrine neoplasia type 2 and medullary thyroid carcinomaQ73377853
von Hippel-Lindau diseaseQ73567751
Protein kinase A in Carney complex: a new example of cAMP pathway alteration in endocrine tumorsQ73615090
A splicing mutation in RB1 in low penetrance retinoblastomaQ73814979
Is familial hyperparathyroidism a unique disease?Q74028932
CDKN2A mutations in multiple primary melanomasQ74357667
Lethality of multiple endocrine neoplasia type IQ74580275
A novel missense mutation in patients from a retinoblastoma pedigree showing only mild expression of the tumor phenotypeQ74792673
Duplication and overexpression of the mutant allele of the MET proto-oncogene in multiple hereditary papillary renal cell tumoursQ77138821
The risk of gastrointestinal carcinoma in familial juvenile polyposisQ77738187
Differential expression of p53, p21waf1/cip1 and hdm2 dependent on DNA damage in Bloom's syndrome fibroblastsQ77787939
Frequent 4-bp deletion in exon 9 of the SMAD4/MADH4 gene in familial juvenile polyposis patientsQ77977521
Loss of cytoplasmic retention ability of mutant LKB1 found in Peutz-Jeghers syndrome patientsQ78109607
Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutationQ78178727
Cowden SyndromeQ85527281
Neurofibromatosis 1Q95809990
Cancer risks in BRCA2 mutation carriersQ34504452
Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.Q34510622
Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complexQ34512350
von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.Q34514928
The molecular basis of Turcot's syndromeQ34662365
Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effectQ34722365
Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage ConsortiumQ34724404
Bloom's syndrome. XX. The first 100 cancersQ34738495
A clinical overview of WT1 gene mutationsQ34738955
The von Hippel-Lindau tumor suppressor protein is required for proper assembly of an extracellular fibronectin matrixQ34748818
The von Hippel-Lindau tumor suppressor protein is a component of an E3 ubiquitin-protein ligase activityQ35201819
Confirmation of a double-hit model for the NF1 gene in benign neurofibromasQ35249470
Immunohistochemical evidence of loss of PTEN expression in primary ductal adenocarcinomas of the breastQ35788322
Differential nuclear and cytoplasmic expression of PTEN in normal thyroid tissue, and benign and malignant epithelial thyroid tumorsQ35810225
Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histologyQ36108223
Wnt-1 signaling inhibits apoptosis by activating beta-catenin/T cell factor-mediated transcriptionQ36370019
Mechanism of activation of the ret proto-oncogene by multiple endocrine neoplasia 2A mutationsQ36550021
Evidence for susceptibility genes to familial Wilms tumour in addition to WT1, FWT1 and FWT2Q36621758
Isolation and characterization of a human pseudogene for the regulatory subunit RI alpha of cAMP-dependent protein kinases and its sublocalization on chromosome 1.Q36779909
Growth suppression of glioma cells by PTEN requires a functional phosphatase catalytic domainQ36818855
Wild-type p53 is a cell cycle checkpoint determinant following irradiationQ37152060
Elongin BC complex prevents degradation of von Hippel-Lindau tumor suppressor gene productsQ37230912
Growth suppression induced by wild-type p53 protein is accompanied by selective down-regulation of proliferating-cell nuclear antigen expressionQ37421517
Alternative splicing and genomic structure of the Wilms tumor gene WT1Q37611742
Leukemia and preleukemia in Fanconi anemia patients. A review of the literature and report of the International Fanconi Anemia RegistryQ37619481
Heterozygous ATM mutations do not contribute to early onset of breast cancerQ38348222
Genomic imprinting in hereditary glomus tumours: evidence for new genetic theoryQ38367968
Werner's syndrome: a review of recent research with an analysis of connective tissue metabolism, growth control of cultured cells, and chromosomal aberrationsQ40250901
Nucleotide excision repair syndromes: molecular basis and clinical symptomsQ40522927
Genetic events in the development of Wilms' tumorQ40681250
Clinical experience over 48 years with pheochromocytomaQ40810053
Bloom helicase is involved in DNA surveillance in early S phase in vertebrate cells.Q40811109
Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated reviewQ40901949
Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanomaQ40978415
Restoration of CDKN2A into melanoma cells induces morphologic changes and reduction in growth rate but not anchorage-independent growth reversalQ41102901
Partnership between DPC4 and SMAD proteins in TGF-beta signalling pathways.Q41157114
Cancers in 44 families with ataxia-telangiectasiaQ41213089
The complete BRCA2 gene and mutations in chromosome 13q-linked kindredsQ41226231
Suppression of the neoplastic phenotype by replacement of the RB gene in human cancer cellsQ41407134
Responses to DNA damage and regulation of cell cycle checkpoints by the ATM protein kinase familyQ41441663
Genetics of cutaneous melanoma and neviQ41467316
Hypermutability and mismatch repair deficiency in RER+ tumor cellsQ41508298
Hypomethylation of classical satellite DNA and chromosome instability in lymphoblastoid cell linesQ41544550
A long-sought needle in the haystack: the multiple endocrine neoplasia type 1 geneQ41612073
Transcriptional repression mediated by the WT1 Wilms tumor gene productQ41661461
P433issue2
P407language of work or nameEnglishQ1860
P304page(s)125-164
P577publication date2002-07-01
P1433published inCancer LettersQ326372
P1476titleGenetic insights into familial cancers-- update and recent discoveries
P478volume181

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