Revised Danish guidelines for the cancer surveillance of patients with Cowden Syndrome.


INTRODUCTION:Cowden syndrome is a cancer predisposition syndrome caused by pathogenic variants in PTEN. The affected patients possess an increased risk of breast, thyroid, renal, colorectal, endometrial cancers as well as malignant melanoma. Thus prophylactic surveillance and follow up is crucial for these patients. METHODS:A review of the literature including existing guidelines from the years 1996 until 2017 was carried out. In total, 2078 scientific papers were identified through database searches on Cowden syndrome. Among these, 11 manuscripts were included based on scientific relevance and quality. Expert consensus was reached to define management guidelines. RESULTS:The literature revealed a high risk of cancer in specific organs for patients diagnosed with Cowden Syndrome. Alternative management guidelines were proposed and discussed. CONCLUSIONS:Here we propose a revised set of management guidelines for patients with Cowden syndrome in Denmark to address the increased risk of various cancer types.


Eur J Med Genet


Smerdel MP,Skytte AB,Jelsig AM,Ebbehøj E,Stochholm K




Has Abstract


2020-05-01 00:00:00














  • Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12.

    abstract::We report on a patient with mental retardation, seizures and tall stature with advanced bone age in whom a de novo apparently balanced chromosomal rearrangement 46,XX,t(X;9)(q12;p13.3) was identified. Using array CGH on flow-sorted derivative chromosomes (array painting) and subsequent FISH and qPCR analysis, we mappe...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章


    authors: Menten B,Buysse K,Vermeulen S,Meersschaut V,Vandesompele J,Ng BL,Carter NP,Mortier GR,Speleman F

    更新日期:2007-11-01 00:00:00

  • Severe skeletal dysplasia caused by undiagnosed hypothyroidism.

    abstract::Due to increased awareness of early clinical signs and introduction of neonatal screening for congenital hypothyroidism, long-term untreated hypothyroidism has become rare. Nevertheless, neonatal screening for congenital hypothyroidism is not performed in all countries, and not every affected patient might be picked u...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章


    authors: Hüffmeier U,Tietze HU,Rauch A

    更新日期:2007-05-01 00:00:00

  • Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform.

    abstract::Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of hereditary polyneuropathies. Variants in more than 80 different genes have been associated with the disorder. In recent years, the introduction of next generation sequencing (NGS) techniques have completely changed the genetic diagnostic approach from the a...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章


    authors: Vaeth S,Christensen R,Dunø M,Lildballe DL,Thorsen K,Vissing J,Svenstrup K,Hertz JM,Andersen H,Jensen UB

    更新日期:2019-01-01 00:00:00

  • Small 7p22.3 microdeletion: Case report of Snx8 haploinsufficiency and neurological findings.

    abstract::Some cases of chromosome 7p22.3 deletions have been reported, but the genotype-phenotype correlation is still uncertain. Neurodevelopmental delay and heart anomalies have been recorded as the most recurrent defects. We describe the clinical features of a four-year-old male child with a 139 kb deletion at 7p22.3 involv...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章


    authors: Mastromoro G,Capalbo A,Guido CA,Torres B,Fabbretti M,Traversa A,Giancotti A,Ventriglia F,Bernardini L,Spalice A,Pizzuti A

    更新日期:2020-04-01 00:00:00

  • FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency.

    abstract::We report a patient with congenital complex pituitary hormone deficiency (CPHD) with intestinal malrotation and anal atresia. We identified a de novo heterozygous mutation, c.664T > G (p.Cys222Gly), in the FOXA2 gene in this individual. This missense mutation had the potential to affect the DNA binding properties of t...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章


    authors: Boda H,Miyata M,Inagaki H,Shinkai Y,Kato T,Yoshikawa T,Kurahashi H

    更新日期:2019-11-01 00:00:00

  • Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients.

    abstract:BACKGROUND:The 17p13.3 deletion syndrome (or Miller-Dieker syndrome, MDS, MIM 247200) is characterized by lissencephaly, mental retardation and facial dysmorphism. The phenotype is attributed to haploinsufficiency of two genes present in the minimal critical region of MDS: PAFAH1B1 (formerly referred to as LIS1) and YW...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章


    authors: Schiff M,Delahaye A,Andrieux J,Sanlaville D,Vincent-Delorme C,Aboura A,Benzacken B,Bouquillon S,Elmaleh-Berges M,Labalme A,Passemard S,Perrin L,Manouvrier-Hanu S,Edery P,Verloes A,Drunat S

    更新日期:2010-09-01 00:00:00

  • A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients.

    abstract::The 17q21.31 microdeletion syndrome is a genetic disorder characterized by intellectual disability, facial dysmorphisms and a typical behavioral phenotype. Patients are usually described as friendly and cooperative but they can also show behavioral problems such as hyperactivity, bad humor, temper tantrums and poor in...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章


    authors: Terrone G,D'Amico A,Imperati F,Carella M,Palumbo O,Gentile M,Canani RB,Melis D,Romano A,Parente I,Riccitelli M,Del Giudice E

    更新日期:2012-08-01 00:00:00

  • A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.

    abstract::Mental retardation (MR) is the most frequent cause of serious handicap in children and young adults. Despite recent progress, in most cases the molecular defects underlying this disorder remain unknown. Linkage studies followed by mutational analysis of known X-chromosomal genes related to mental retardation (MRX gene...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章


    authors: Rejeb I,Ben Jemaa L,Abaied L,Kraoua L,Saillour Y,Maazoul F,Chelly J,Chaabouni H

    更新日期:2011-05-01 00:00:00

  • Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia.

    abstract::Recently a mutation in the SNX10 gene that belongs to the sorting nexin family was identified as a cause of a new subset of human autosomal recessive osteopetrosis. Here, we identified a novel homozygous mutation (c.46C > T, p.Arg16X) in SNX10, in an Iraqi boy from a consanguineous family with a history of infantile o...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章


    authors: Mégarbané A,Pangrazio A,Villa A,Chouery E,Maarawi J,Sabbagh S,Lefranc G,Sobacchi C

    更新日期:2013-01-01 00:00:00

  • Determination of the deletion breakpoints in two patients with contiguous gene syndrome encompassing CYBB gene.

    abstract::X-linked chronic granulomatous disease is a primary immunodeficiency caused by mutations in CYBB. Although large deletions involving CYBB are known to cause contiguous gene syndrome (CGS), only a few patients have been studied precisely at the molecular levels. Our study determined the deletion breakpoints in two pati...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章


    authors: Yamada M,Arai T,Oishi T,Hatano N,Kobayashi I,Kubota M,Suzuki N,Yoda M,Kawamura N,Ariga T

    更新日期:2010-11-01 00:00:00

  • Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation.

    abstract::Al-Awadi-Raas-Rothschild syndrome (AARRS; OMIM 276820) is a very rare autosomal recessive limb malformation syndrome caused by WNT7A mutations. AARRS is characterized by various degrees of limb aplasia and hypoplasia. Normal intelligence and malformations of urogenital system are frequent findings. Complete loss of WN...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章


    authors: Kantaputra PN,Kapoor S,Verma P,Kaewgahya M,Kawasaki K,Ohazama A,Ketudat Cairns JR

    更新日期:2017-12-01 00:00:00

  • A new mutation in COG7 extends the spectrum of COG subunit deficiencies.

    abstract::We describe a patient homozygous for a novel mutation in COG7, coding for one of the subunits of the Conserved Oligomeric Golgi complex, involved in retrograde vesicular trafficking. His brother showed a similar clinical syndrome and glycosylation defect but no DNA could be obtained from this patient. This mutation, c...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章


    authors: Zeevaert R,Foulquier F,Cheillan D,Cloix I,Guffon N,Sturiale L,Garozzo D,Matthijs G,Jaeken J

    更新日期:2009-09-01 00:00:00

  • Ipsilateral foot and contralateral hand anomalies in a patient with Poland-Moebius syndrome.

    abstract::This report describes a patient who had bilateral facial nerve paralysis, external ophthalmoplegia, absence of pectoralis major muscle at right side, ipsilateral hand and foot, and contralateral hand anomalies. To our knowledge, this is the first patient with Poland syndrome reported in combination with Moebius syndro...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章


    authors: Cetin II,Aktaş D,Tunçbilek E

    更新日期:2005-04-01 00:00:00

  • MAPH: from gels to microarrays.

    abstract::The development of accurate and sensitive methodologies to detect small chromosomal imbalances (<3 Mb) is extremely important in clinical diagnostics and research in human genetics. The technique of array-comparative genomic hybridization (CGH) using BAC and PAC clones is very sensitive methodology and is rapidly beco...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章,评审


    authors: Patsalis PC,Kousoulidou L,Sismani C,Männik K,Kurg A

    更新日期:2005-07-01 00:00:00

  • 21q21 deletion involving NCAM2: report of 3 cases with neurodevelopmental disorders.

    abstract::Here we report three patients affected with neurodevelopmental disorders and harbouring 21q21 deletions involving NCAM2 gene. NCAM (Neural Cell Adhesion Molecule) proteins are involved in axonal migration, synaptic formation and plasticity. Poor axonal growth and fasciculation is observed in animal models deficient fo...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章


    authors: Petit F,Plessis G,Decamp M,Cuisset JM,Blyth M,Pendlebury M,Andrieux J

    更新日期:2015-01-01 00:00:00

  • Projected number of children with isolated spina bifida or down syndrome in England and Wales by 2020.

    abstract::Children with major congenital anomalies often require lifelong access to health and social care services. Estimating future numbers of affected individuals can aid health and social care planning. This study aimed to estimate the number of children aged 0-15 years living with spina bifida or Down syndrome in England ...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章


    authors: Best KE,Glinianaia SV,Lingam R,Morris JK,Rankin J

    更新日期:2018-09-01 00:00:00

  • Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.

    abstract::Wiedemann-Steiner syndrome (WDSTS) is a very rare genetic disorder characterized by short stature, intellectual disability and distinctive facial appearance. We present a five-year-old boy who was diagnosed with WDSTS based on identification of a novel de novo pathogenic variant in the KMT2A gene (OMIM: 159555) by Who...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章,评审


    authors: Aggarwal A,Rodriguez-Buritica DF,Northrup H

    更新日期:2017-06-01 00:00:00

  • A classification system for split-hand/ foot malformation (SHFM): A proposal based on 3 pedigrees with WNT10B mutations.

    abstract::SHFM6 (OMIM 225300) is caused by WNT10B pathogenic variants (12q13.12). It is one of the rarest forms of SHFM; with only seven pathogenic variants described in the world literature. Furthermore, it has not been determined if SHFM6 has specific phenotypic characteristics. In this paper, we present a case series of thre...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章


    authors: Al Ghamdi MA,Al-Qattan MM,Hadadi A,Alabdulrahman A,Almuzzaini B,Alatwi N,AlBalwi MA

    更新日期:2020-03-01 00:00:00

  • Sperm FISH analysis in two healthy infertile brothers with t(15;18) unbalanced translocation: Implications for genetic counselling and reproductive management.

    abstract::Numerous studies have shown that balanced reciprocal or Robertsonian translocations and inversions are associated with reduced or absent sperm production. In contrast, a similar association has been rarely reported for unbalanced translocations. An unbalanced translocation, 45,XY,-15,der(18)t(15;18)(q11.2;q23), was fo...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章


    authors: Leclercq S,Auger J,Dupont C,Le Tessier D,Lebbar A,Baverel F,Dupont JM,Eustache F

    更新日期:2010-05-01 00:00:00

  • Clinical spectrum of congenital tibial hemimelia in 35 limbs of 24 patients: A single center observational study from India.

    abstract:PURPOSE:Considering the paucity of reports on large series of patients with tibial hemimelia, we assessed the clinical spectrum of this rare congenital disorder in patients seen at a single Indian center over 10 years. METHODS:Retrospective review of medical records of patients seen at single center in 10 years. RESU...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章


    authors: Kumar Sahoo P,Sahu MM,Prasad Das S

    更新日期:2019-07-01 00:00:00

  • Dilated cardiomyopathy in a patient with autosomal dominant EEF1A2-related neurodevelopmental disorder.

    abstract::The EEF1A2 gene encodes eukaryotic translation elongation factor 1α2, an integral component of the elongation factor complex. Heterozygous pathogenic variants in EEF1A2 are associated with neurodevelopmental disorders characterized by epilepsy, global developmental delay, and autism. To date, dilated cardiomyopathy ha...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章


    authors: Kaneko M,Rosser T,Raca G

    更新日期:2021-01-01 00:00:00

  • Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China.

    abstract:INTRODUCTION:Chromosome Xq28 duplications encompassing methyl-CpG-binding protein 2 gene (MECP2) are observed most in males with a severe neurodevelopmental disorder associated with hypotonia, spasticity, severe learning disability, delayed psychomotor development, and recurrent pulmonary infections. Most female carrie...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章


    authors: Yi Z,Pan H,Li L,Wu H,Wang S,Ma Y,Qi Y

    更新日期:2016-06-01 00:00:00

  • Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene.

    abstract::Isovaleric acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism caused by deficiency of mitochondrial isovaleryl-CoA dehydrogenase (IVD). Accumulation of isovaleryl-CoA derivatives to toxic levels results in clinical symptoms of the disease. Here, we investigate the clinical and molecular featur...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章


    authors: Hertecant JL,Ben-Rebeh I,Marah MA,Abbas T,Ayadi L,Ben Salem S,Al-Jasmi FA,Al-Gazali L,Al-Yahyaee SA,Ali BR

    更新日期:2012-12-01 00:00:00

  • Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia.

    abstract::We identified a 495 Kb interstitial deletion of chromosome Xp22.2, centered on the AP1S2 gene, by means of oligonucleotide array comparative genomic hybridisation (array-CGH) in a child with marked hypotonia in the first months of life, psychomotor retardation, severely delayed walking and speech development, and unsp...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章


    authors: Ballarati L,Cereda A,Caselli R,Maitz S,Russo S,Selicorni A,Larizza L,Giardino D

    更新日期:2012-02-01 00:00:00

  • Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion.

    abstract::We report on the observation of an interstitial deletion of the long arm of chromosome 1 diagnosed prenatally in a 28 weeks gestation fetus by standard karyotype. Amniocentesis was performed because of an increased Down syndrome maternal serum screening and ultrasonographic abnormalities. Fetus autopsy showed an intra...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章,评审


    authors: Chaabouni M,Martinovic J,Sanlaville D,Attié-Bittach T,Caillat S,Turleau C,Vekemans M,Morichon N

    更新日期:2006-11-01 00:00:00

  • Narrowing the deleted region associated with the 15q21 syndrome.

    abstract::Interstitial deletions of chromosome 15q, not involving the PWS/AS region, are uncommon and poorly characterized. Few cases defined at the cytogenetic level have been reported with 15q21 deletions and characteristic facial dysmorphisms are present in all them. We report on the molecular characterization by array-CGH o...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章


    authors: Pramparo T,Mattina T,Gimelli S,Liehr T,Zuffardi O

    更新日期:2005-07-01 00:00:00

  • Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy.

    abstract::Jacobsen syndrome refers to a congenital anomaly caused by deletion at 11q23.3-qter. We here describe two siblings with the same 11q23.3-qter deletion. Both parents were healthy with a normal karyotype. Cytogenetic microarray analysis revealed no mosaicism in either parent but the mother showed uniparental disomy enco...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章


    authors: Kawai M,Tsutsumi M,Suzuki F,Sameshima K,Dowa Y,Kyoya T,Inagaki H,Kurahashi H

    更新日期:2019-03-01 00:00:00

  • A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy.

    abstract::An increasing number of developmental and epileptic encephalopathies have been correlated with variants of ion channel genes, and in particular of potassium channels genes, such as KCNA1, KCNA2, KCNB1, KCNQ2, KCTD7 and KCNT1. Here we report a child with an early severe developmental and epileptic encephalopathy, spast...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章


    authors: Vetri L,Calì F,Vinci M,Amato C,Roccella M,Granata T,Freri E,Solazzi R,Romano V,Elia M

    更新日期:2020-04-01 00:00:00

  • Rare missense TUBGCP5 gene variant in a patient with primary microcephaly.

    abstract::Primary microcephalies (MCPH) are characterized by microcephaly (HC -2 SD at birth) in the absence of visceral malformations. To date, less than 20 genes have been associated with MCHP, several of which are involved in the formation and function of the centrosome. Here, we report a novel missense variant in the TUBGCP...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章


    authors: Maver A,Čuturilo G,Kovanda A,Miletić A,Peterlin B

    更新日期:2019-12-01 00:00:00

  • Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion.

    abstract::A 5,6 Mb de novo 19q12-q13.12 interstitial deletion was diagnosed prenatally by array-comparative genomic hybridization in a 26 weeks male fetus presenting with intra-uterine growth retardation, left clubfoot, atypical genitalia and dysmorphic features. Autopsic examination following termination of pregnancy identifie...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章


    authors: Mottet N,Cabrol C,Metz JP,Toubin C,Arbez-Gindre F,Valduga M,McElreavey K,Riethmuller D,Van Maldergem L,Piard J

    更新日期:2019-09-01 00:00:00