Literature DB >> 9832032

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.

M Longy1, V Coulon, B Duboué, A David, M Larrègue, C Eng, P Amati, J L Kraimps, A Bottani, D Lacombe, D Bonneau.   

Abstract

We report three new mutations in PTEN, the gene responsible for Cowden disease in five patients with Bannayan-Riley-Ruvalcaba syndrome from three unrelated families. This finding confirms that Cowden disease, a dominant cancer predisposing syndrome, and Bannayan-Riley-Ruvalcaba syndrome, which includes macrocephaly, multiple lipomas, intestinal hamartomatous polyps, vascular malformations, and pigmented macules of the penis, are allelic disorders at the PTEN locus on chromosome 10q.

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Year:  1998        PMID： 9832032      PMCID： PMC1051478          DOI： 10.1136/jmg.35.11.886

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  13 in total

1.  Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.

Authors:  M R Nelen; W C van Staveren; E A Peeters; M B Hassel; R J Gorlin; H Hamm; C F Lindboe; J P Fryns; R H Sijmons; D G Woods; E C Mariman; G W Padberg; H Kremer
Journal:  Hum Mol Genet       Date:  1997-08       Impact factor: 6.150

2.  PTEN1 is frequently mutated in primary endometrial carcinomas.

Authors:  D Kong; A Suzuki; T T Zou; A Sakurada; L W Kemp; S Wakatsuki; T Yokoyama; H Yamakawa; T Furukawa; M Sato; N Ohuchi; S Sato; J Yin; S Wang; J M Abraham; R F Souza; K N Smolinski; S J Meltzer; A Horii
Journal:  Nat Genet       Date:  1997-10       Impact factor: 38.330

3.  Differential loss of heterozygosity in the region of the Cowden locus within 10q22-23 in follicular thyroid adenomas and carcinomas.

Authors:  D J Marsh; Z Zheng; J Zedenius; H Kremer; G W Padberg; C Larsson; M Longy; C Eng
Journal:  Cancer Res       Date:  1997-02-01       Impact factor: 12.701

4.  TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor beta.

Authors:  D M Li; H Sun
Journal:  Cancer Res       Date:  1997-06-01       Impact factor: 12.701

5.  Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome.

Authors:  D Liaw; D J Marsh; J Li; P L Dahia; S I Wang; Z Zheng; S Bose; K M Call; H C Tsou; M Peacocke; C Eng; R Parsons
Journal:  Nat Genet       Date:  1997-05       Impact factor: 38.330

6.  Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers.

Authors:  P A Steck; M A Pershouse; S A Jasser; W K Yung; H Lin; A H Ligon; L A Langford; M L Baumgard; T Hattier; T Davis; C Frye; R Hu; B Swedlund; D H Teng; S V Tavtigian
Journal:  Nat Genet       Date:  1997-04       Impact factor: 38.330

7.  Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease.

Authors:  E M Arch; B K Goodman; R A Van Wesep; D Liaw; K Clarke; R Parsons; V A McKusick; M T Geraghty
Journal:  Am J Med Genet       Date:  1997-09-05

8.  PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer.

Authors:  J Li; C Yen; D Liaw; K Podsypanina; S Bose; S I Wang; J Puc; C Miliaresis; L Rodgers; R McCombie; S H Bigner; B C Giovanella; M Ittmann; B Tycko; H Hibshoosh; M H Wigler; R Parsons
Journal:  Science       Date:  1997-03-28       Impact factor: 47.728

9.  Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome.

Authors:  M C Fargnoli; S J Orlow; J Semel-Concepcion; J L Bolognia
Journal:  Arch Dermatol       Date:  1996-10

10.  Allelic loss on chromosome 10 in prostate adenocarcinoma.

Authors:  M Ittmann
Journal:  Cancer Res       Date:  1996-05-01       Impact factor: 12.701
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  21 in total

1.  A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis.

Authors:  James R Howe; Sathivel Chinnathambi; Daniel Calva; Jennifer Bair; Brenda Pechman; Agnes Salamon; Beatrix Tam; László Simon
Journal:  Cancer Genet Cytogenet       Date:  2008-02

Review 2.  Hamartomatous polyposis syndromes.

Authors:  Daniel Calva; James R Howe
Journal:  Surg Clin North Am       Date:  2008-08       Impact factor: 2.741

3.  Male breast cancer in Cowden syndrome patients with germline PTEN mutations.

Authors:  J D Fackenthal; D J Marsh; A L Richardson; S A Cummings; C Eng; B G Robinson; O I Olopade
Journal:  J Med Genet       Date:  2001-03       Impact factor: 6.318

4.  Novel germline mutations in the PTEN tumour suppressor gene found in women with multiple cancers.

Authors:  I De Vivo; D M Gertig; S Nagase; S E Hankinson; R O'Brien; F E Speizer; R Parsons; D J Hunter
Journal:  J Med Genet       Date:  2000-05       Impact factor: 6.318

Review 5.  Clinical genetics of multiple endocrine neoplasias, Carney complex and related syndromes.

Authors:  C A Stratakis
Journal:  J Endocrinol Invest       Date:  2001-05       Impact factor: 4.256

Review 6.  A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing.

Authors:  Benjamin Kamien; Anne Ronan; Gemma Poke; Ingrid Sinnerbrink; Gareth Baynam; Michelle Ward; William T Gibson; Tracy Dudding-Byth; Rodney J Scott
Journal:  Mol Syndromol       Date:  2018-01-25

7.  Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.

Authors:  J T Celebi; H C Tsou; F F Chen; H Zhang; X L Ping; M G Lebwohl; J Kezis; M Peacocke
Journal:  J Med Genet       Date:  1999-05       Impact factor: 6.318

8.  Hereditary hamartomatous polyposis syndromes: understanding the disease risks as children reach adulthood.

Authors:  Michael Manfredi
Journal:  Gastroenterol Hepatol (N Y)       Date:  2010-03

Review 9.  PTEN-opathies: from biological insights to evidence-based precision medicine.

Authors:  Lamis Yehia; Joanne Ngeow; Charis Eng
Journal:  J Clin Invest       Date:  2019-01-07       Impact factor: 14.808

10.  Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases.

Authors:  Y M C Hendriks; J T C M Verhallen; J J van der Smagt; S G Kant; Y Hilhorst; L Hoefsloot; K B-M Hansson; P J C van der Straaten; H Boutkan; M H Breuning; H F A Vasen; A H J T Bröcker-Vriends
Journal:  Fam Cancer       Date:  2003       Impact factor: 2.375
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