The two-mutational-event theory in medullary thyroid cancer.

Abstract:

:Comparisons are presented of the ages of onset of 20 cases of hereditary medullary carcinoma of the thyroid (MCT) and of 22 sporadic cases of this same type of cancer. These data are compatible with what might be expected by the two-mutational-event theory of the initiation of cancer postulated by Knudson. It had been previously postulated that C-cell hyperplasia of the thyroid was a premalignant change resulting from the first or genetic mutational event in the initiation of this type of cancer. The finding of C-cell hyperplasia in thyroid glands of each of the 10 patients with the hereditary condition and in none of the 10 sporadic patients is compatible with this theory. The C-cell hyperplasia is believed to be the expression of the genetic mutation, which requires a subsequent somatic mutation to transform the initially mutated cell into a cancer cell.

journal_name

Am J Hum Genet

authors

Jackson CE,Block MA,Greenawald KA,Tashjian AH Jr

subject

Has Abstract

pub_date

1979-11-01 00:00:00

pages

704-10

issue

6

eissn

0002-9297

issn

1537-6605

journal_volume

31

pub_type

杂志文章
  • Power comparison of parametric and nonparametric linkage tests in small pedigrees.

    abstract::When the mode of inheritance of a disease is unknown, the LOD-score method of linkage analysis must take into account uncertainties in model parameters. We have previously proposed a parametric linkage test called "MFLOD," which does not require specification of disease model parameters. In the present study, we intro...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/302888

    authors: Sham PC,Lin MW,Zhao JH,Curtis D

    更新日期:2000-05-01 00:00:00

  • Accurate and fast multiple-testing correction in eQTL studies.

    abstract::In studies of expression quantitative trait loci (eQTLs), it is of increasing interest to identify eGenes, the genes whose expression levels are associated with variation at a particular genetic variant. Detecting eGenes is important for follow-up analyses and prioritization because genes are the main entities in biol...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2015.04.012

    authors: Sul JH,Raj T,de Jong S,de Bakker PI,Raychaudhuri S,Ophoff RA,Stranger BE,Eskin E,Han B

    更新日期:2015-06-04 00:00:00

  • Localization of human gene loci using spontaneous chromosome rearrangements in human-Chinese hamster somatic cell hybrids.

    abstract::Analysis of human-Chinese hamster somatic cell hybrids with spontaneously derived chromosome structural changes has provided data for the regional and subregional localization of gene loci which have previously been assigned to human chromosomes 2, 12, and X. Correlation of the expression of human gene loci with the h...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Hamerton JL,Mohandas T,McAlpine J

    更新日期:1975-09-01 00:00:00

  • Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.

    abstract::DNA replication precisely duplicates the genome to ensure stable inheritance of genetic information. Impaired licensing of origins of replication during the G1 phase of the cell cycle has been implicated in Meier-Gorlin syndrome (MGS), a disorder defined by the triad of short stature, microtia, and a/hypoplastic patel...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2016.05.019

    authors: Fenwick AL,Kliszczak M,Cooper F,Murray J,Sanchez-Pulido L,Twigg SR,Goriely A,McGowan SJ,Miller KA,Taylor IB,Logan C,WGS500 Consortium.,Bozdogan S,Danda S,Dixon J,Elsayed SM,Elsobky E,Gardham A,Hoffer MJ,Koopmans M,

    更新日期:2016-07-07 00:00:00

  • Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.

    abstract::Methylmalonyl CoA mutase (MCM) catalyzes an essential step in the degradation of several branch-chain amino acids and odd-chain fatty acids. Deficiency of this apoenzyme causes the mut form of methylmalonic acidemia, an often fatal disorder of organic acid metabolism. An MCM cDNA has recently been obtained from human ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Ledley FD,Lumetta MR,Zoghbi HY,VanTuinen P,Ledbetter SA,Ledbetter DH

    更新日期:1988-06-01 00:00:00

  • The role of community review in evaluating the risks of human genetic variation research.

    abstract::The practicality and moral value of community review of human genetic research has become a focus of debate. Examples from two Native American communities are used to address four aspects of that debate: (1) the value of community review in larger, geographically dispersed populations; (2) the identification of cultur...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/302415

    authors: Foster MW,Sharp RR,Freeman WL,Chino M,Bernsten D,Carter TH

    更新日期:1999-06-01 00:00:00

  • Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.

    abstract::The pheochromocytomas are an important cause of secondary hypertension. Although pheochromocytoma susceptibility may be associated with germline mutations in the tumor-suppressor genes VHL and NF1 and in the proto-oncogene RET, the genetic basis for most cases of nonsyndromic familial pheochromocytoma is unknown. Rece...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/321282

    authors: Astuti D,Latif F,Dallol A,Dahia PL,Douglas F,George E,Sköldberg F,Husebye ES,Eng C,Maher ER

    更新日期:2001-07-01 00:00:00

  • A recombination outside the BB deletion refines the location of the X linked retinitis pigmentosa locus RP3.

    abstract::Genetic loci for X-linked retinitis pigmentosa (XLRP) have been mapped between Xp11.22 and Xp22.13 (RP2, RP3, RP6, and RP15). The RP3 gene, which is responsible for the predominant form of XLRP in most Caucasian populations, has been localized to Xp21.1 by linkage analysis and the map positions of chromosomal deletion...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Fujita R,Bingham E,Forsythe P,McHenry C,Aita V,Navia BA,Dry K,Segal M,Devoto M,Bruns G,Wright AF,Ott J,Sieving PA,Swaroop A

    更新日期:1996-07-01 00:00:00

  • Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.

    abstract::X-linked West syndrome, also called "X-linked infantile spasms" (ISSX), is characterized by early-onset generalized seizures, hypsarrhythmia, and mental retardation. Recently, we have shown that the majority of the X-linked families with infantile spasms carry mutations in the aristaless-related homeobox gene (ARX), w...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/375538

    authors: Kalscheuer VM,Tao J,Donnelly A,Hollway G,Schwinger E,Kübart S,Menzel C,Hoeltzenbein M,Tommerup N,Eyre H,Harbord M,Haan E,Sutherland GR,Ropers HH,Gécz J

    更新日期:2003-06-01 00:00:00

  • Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping.

    abstract::Thiamine-responsive megaloblastic anemia, also known as "TRMA" or "Rogers syndrome," is an early-onset autosomal recessive disorder defined by the occurrence of megaloblastic anemia, diabetes mellitus, and sensorineural deafness, responding in varying degrees to thiamine treatment. On the basis of a linkage analysis o...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/301642

    authors: Neufeld EJ,Mandel H,Raz T,Szargel R,Yandava CN,Stagg A,Fauré S,Barrett T,Buist N,Cohen N

    更新日期:1997-12-01 00:00:00

  • The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval.

    abstract::Recently, a new locus (PARK8) for autosomal dominant parkinsonism has been identified in one large Japanese family. Linkage has been shown to a 16-cM centromeric region of chromosome 12, between markers D12S1631 and D12S339. We tested 21 white families with Parkinson disease and an inheritance pattern compatible with ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/380647

    authors: Zimprich A,Müller-Myhsok B,Farrer M,Leitner P,Sharma M,Hulihan M,Lockhart P,Strongosky A,Kachergus J,Calne DB,Stoessl J,Uitti RJ,Pfeiffer RF,Trenkwalder C,Homann N,Ott E,Wenzel K,Asmus F,Hardy J,Wszolek Z,Gasser T

    更新日期:2004-01-01 00:00:00

  • A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.

    abstract::Hermansky-Pudlak Syndrome (HPS) is an autosomal-recessive condition characterized by oculocutaneous albinism and a bleeding diathesis due to absent platelet delta granules. HPS is a genetically heterogeneous disorder of intracellular vesicle biogenesis. We first screened all our patients with HPS-like symptoms for mut...

    journal_title:American journal of human genetics

    pub_type: 杂志文章,收录出版

    doi:10.1016/j.ajhg.2011.05.009

    authors: Cullinane AR,Curry JA,Carmona-Rivera C,Summers CG,Ciccone C,Cardillo ND,Dorward H,Hess RA,White JG,Adams D,Huizing M,Gahl WA

    更新日期:2011-06-10 00:00:00

  • Genetic studies of human apolipoproteins. XX. Genetic polymorphism of apolipoprotein J and its impact on quantitative lipid traits in normolipidemic subjects.

    abstract::Apolipoprotein J (apo J) is a newly identified member of a growing family of proteins associated with various lipoprotein particles. Apo J is a glycoprotein which exists in the plasma associated with high-density lipoprotein subfractions which also contain apo A-I and cholesteryl ester transfer protein (CETP). We have...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Kamboh MI,Harmony JA,Sepehrnia B,Nwankwo M,Ferrell RE

    更新日期:1991-12-01 00:00:00

  • Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

    abstract::Allan-Herndon-Dudley syndrome was among the first of the X-linked mental retardation syndromes to be described (in 1944) and among the first to be regionally mapped on the X chromosome (in 1990). Six large families with the syndrome have been identified, and linkage studies have placed the gene locus in Xq13.2. Mutati...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/431313

    authors: Schwartz CE,May MM,Carpenter NJ,Rogers RC,Martin J,Bialer MG,Ward J,Sanabria J,Marsa S,Lewis JA,Echeverri R,Lubs HA,Voeller K,Simensen RJ,Stevenson RE

    更新日期:2005-07-01 00:00:00

  • Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.

    abstract::Keratitis-ichthyosis-deafness syndrome (KID) is a rare ectodermal dysplasia characterized by vascularizing keratitis, profound sensorineural hearing loss (SNHL), and progressive erythrokeratoderma, a clinical triad that indicates a failure in development and differentiation of multiple stratifying epithelia. Here, we ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/339986

    authors: Richard G,Rouan F,Willoughby CE,Brown N,Chung P,Ryynänen M,Jabs EW,Bale SJ,DiGiovanna JJ,Uitto J,Russell L

    更新日期:2002-05-01 00:00:00

  • Apigenin as a Candidate Prenatal Treatment for Trisomy 21: Effects in Human Amniocytes and the Ts1Cje Mouse Model.

    abstract::Human fetuses with trisomy 21 (T21) have atypical brain development that is apparent sonographically in the second trimester. We hypothesize that by analyzing and integrating dysregulated gene expression and pathways common to humans with Down syndrome (DS) and mouse models we can discover novel targets for prenatal t...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2020.10.001

    authors: Guedj F,Siegel AE,Pennings JLA,Alsebaa F,Massingham LJ,Tantravahi U,Bianchi DW

    更新日期:2020-11-05 00:00:00

  • Chromosome 17q linkage studies of 18 Utah breast cancer kindreds.

    abstract::In this paper we present linkage results from the analysis of 18 Utah breast cancer kindreds, for three 17q markers. Four kindreds had LOD scores greater than 1.0 for at least one of the marker loci. One of these kindreds has a LOD score of 6.07 with D17S579, and we believe it to be the most informative 17q family rep...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Goldgar DE,Cannon-Albright LA,Oliphant A,Ward JH,Linker G,Swensen J,Tran TD,Fields P,Uharriet P,Skolnick MH

    更新日期:1993-04-01 00:00:00

  • In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

    abstract::Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical facial dysmorphism, and craniosynostosis. Using family-based exome sequencing, we identified a dominantly inherited heterozygous in-frame deletion in exon 1 of SKI. Direct sequencing of SKI ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2012.10.002

    authors: Carmignac V,Thevenon J,Adès L,Callewaert B,Julia S,Thauvin-Robinet C,Gueneau L,Courcet JB,Lopez E,Holman K,Renard M,Plauchu H,Plessis G,De Backer J,Child A,Arno G,Duplomb L,Callier P,Aral B,Vabres P,Gigot N,Arbu

    更新日期:2012-11-02 00:00:00

  • Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration.

    abstract::Diabetes mellitus and neurodegeneration are common diseases for which shared genetic factors are still only partly known. Here, we show that loss of the BiP (immunoglobulin heavy-chain binding protein) co-chaperone DNAJC3 leads to diabetes mellitus and widespread neurodegeneration. We investigated three siblings with ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2014.10.013

    authors: Synofzik M,Haack TB,Kopajtich R,Gorza M,Rapaport D,Greiner M,Schönfeld C,Freiberg C,Schorr S,Holl RW,Gonzalez MA,Fritsche A,Fallier-Becker P,Zimmermann R,Strom TM,Meitinger T,Züchner S,Schüle R,Schöls L,Prokisch H

    更新日期:2014-12-04 00:00:00

  • RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.

    abstract::We determined the mutation spectrum of the RP2 and RPGR genes in patients with X-linked retinitis pigmentosa (XLRP) and searched for correlations between categories of mutation and severity of disease. We screened 187 unrelated male patients for mutations, including 135 with a prior clinical diagnosis of XLRP, 11 with...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/379379

    authors: Sharon D,Sandberg MA,Rabe VW,Stillberger M,Dryja TP,Berson EL

    更新日期:2003-11-01 00:00:00

  • Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

    abstract::Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders characterized by abnormal iron deposition in the basal ganglia. We report that de novo mutations in WDR45, a gene located at Xp11.23 and encoding a beta-propeller scaffold protein with a putative role in autophagy, cause a distinctiv...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2012.10.019

    authors: Haack TB,Hogarth P,Kruer MC,Gregory A,Wieland T,Schwarzmayr T,Graf E,Sanford L,Meyer E,Kara E,Cuno SM,Harik SI,Dandu VH,Nardocci N,Zorzi G,Dunaway T,Tarnopolsky M,Skinner S,Frucht S,Hanspal E,Schrander-Stumpel C,

    更新日期:2012-12-07 00:00:00

  • So many Nigerians: why is Nigeria overrepresented as the ancestral genetic homeland of Legacy African North Americans?

    abstract::The genetics of African North Americans are complex amalgamations of various West and Central African peoples with modest gene flow from specific European and Amerindian peoples. A comprehensive understanding of African North American biohistory is a prerequisite for accurate interpretations of the ancestral genetics ...

    journal_title:American journal of human genetics

    pub_type: 评论,杂志文章

    doi:10.1016/j.ajhg.2020.10.010

    authors: Jackson FLC

    更新日期:2021-01-07 00:00:00

  • A test of the hypothesis that age at onset in Huntington disease is controlled by an X-linked recessive modifier.

    abstract::Data from the Research Roster for Huntington Disease Patients and Families were used to assess the hypothesis that juvenile onset in Huntington disease is determined by an X-linked recessive modifying gene in the affected parent. The observed proportion of affected fathers to affected mothers who had such offspring w...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Ridley RM,Farrer LA,Frith CD,Conneally PM

    更新日期:1992-03-01 00:00:00

  • Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy.

    abstract::The etiology of acquired partial lipodystrophy (APL, also called "Barraquer-Simons syndrome") is unknown. Genomic DNA mutations affecting the nuclear lamina protein lamin A cause inherited partial lipodystrophy but are not found in patients with APL. Because it also encodes a nuclear lamina protein (lamin B2) and its ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/505885

    authors: Hegele RA,Cao H,Liu DM,Costain GA,Charlton-Menys V,Rodger NW,Durrington PN

    更新日期:2006-08-01 00:00:00

  • Polymorphism in the 5'-flanking region of the human insulin gene and the incidence of diabetes.

    abstract::DNA length polymorphism in the 5'-flanking region of the human insulin gene has been reported by Bell et al. (1981), Rotwein et al. (1981), and Owerbach and Nerup (1982). Bgl I digestions of human DNA that have been hybridized to an insulin probe using the Southern technique shows that there are two distinct groups of...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Yokoyama S

    更新日期:1983-03-01 00:00:00

  • Canine behavioral genetics: pointing out the phenotypes and herding up the genes.

    abstract::An astonishing amount of behavioral variation is captured within the more than 350 breeds of dog recognized worldwide. Inherent in observations of dog behavior is the notion that much of what is observed is breed specific and will persist, even in the absence of training or motivation. Thus, herding, pointing, trackin...

    journal_title:American journal of human genetics

    pub_type: 杂志文章,评审

    doi:10.1016/j.ajhg.2007.12.001

    authors: Spady TC,Ostrander EA

    更新日期:2008-01-01 00:00:00

  • Network analyses of Y-chromosomal types in Europe, northern Africa, and western Asia reveal specific patterns of geographic distribution.

    abstract::In a study of 908 males from Europe, northern Africa, and western Asia, the variation of four Y-linked dinucleotide microsatellites was analyzed within three "frames" that are defined by mutations that are nonrecurrent, or nearly so. The rapid generation and extinction of new dinucleotide length variants causes the ha...

    journal_title:American journal of human genetics

    pub_type: 杂志文章,多中心研究

    doi:10.1086/301999

    authors: Malaspina P,Cruciani F,Ciminelli BM,Terrenato L,Santolamazza P,Alonso A,Banyko J,Brdicka R,García O,Gaudiano C,Guanti G,Kidd KK,Lavinha J,Avila M,Mandich P,Moral P,Qamar R,Mehdi SQ,Ragusa A,Stefanescu G,Caraghin M

    更新日期:1998-09-01 00:00:00

  • Average heterozygosity revisited.

    abstract::The estimate of heterozygosity and proportion of polymorphic loci for 33 red blood cell loci has been updated by the elimination of some loci of questionable status and the addition of data on 33 loci. The new figures for heterozygosity and proportion of polymorphic loci, .105 and .283, respectively, are based on 60 r...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Hedrick PW,Murray E

    更新日期:1978-07-01 00:00:00

  • Lowe oculocerebrorenal syndrome: DNA-based linkage of the gene to Xq24-q26, using tightly linked flanking markers and the correlation to lens examination in carrier diagnosis.

    abstract::The Lowe syndrome (LS), or oculocerebrorenal syndrome, has been studied using DNA-based linkage analysis, and the findings have been correlated with the result of a thorough ophthalmologic examination. It was found that the LS gene was linked to markers in the Xq24-q26 region and that the locus DXS42 was the most clos...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Wadelius C,Fagerholm P,Pettersson U,Annerén G

    更新日期:1989-02-01 00:00:00

  • A test for linkage and association in general pedigrees: the pedigree disequilibrium test.

    abstract::Family-based tests of linkage disequilibrium typically are based on nuclear-family data including affected individuals and their parents or their unaffected siblings. A limitation of such tests is that they generally are not valid tests of association when data from related nuclear families from larger pedigrees are u...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/302957

    authors: Martin ER,Monks SA,Warren LL,Kaplan NL

    更新日期:2000-07-01 00:00:00