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COMMENTARY

Free Access

Lynch syndrome: five unanswered questions

E. Castellsagué,  W.D. Foulkes, 
  • Pages: 503-506
  • First Published: 02 March 2015

REVIEW

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Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome

G. Ponti,  E. Castellsagué,  C. Ruini,  A. Percesepe,  A. Tomasi, 
  • Pages: 507-516
  • First Published: 27 October 2014

SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS

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Improving the uptake of predictive testing and colorectal screening in Lynch syndrome: a regional primary care survey

P. Barrow,  K. Green,  T. Clancy,  F. Lalloo,  J. Hill,  D.G. Evans, 
  • Pages: 517-524
  • First Published: 04 February 2015
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Long-term psychosocial and behavioral adjustment in individuals receiving genetic test results in Lynch syndrome

M.J. Esplen,  J. Wong,  M. Aronson,  K. Butler,  H. Rothenmund,  K. Semotiuk,  L. Madlensky,  C. Way,  E. Dicks,  J. Green,  S. Gallinger, 
  • Pages: 525-532
  • First Published: 09 October 2014

Section Editor:

Aad Tibben, email: [email protected]

HOTSPOTS

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Establishing cancer risks associated with PMS2 germline mutations in Lynch syndrome

N. S. Caron, 
  • Pages: 533-534
  • First Published: 12 March 2015
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Origin of MLH1, MSH2, MSH6 and PMS2 mutations can help inform long-term care strategies for patients with colorectal and endometrial cancer

J. W. Hickmott, 
  • Pages: 534-535
  • First Published: 12 March 2015

SHORT REPORTS

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Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population

E. Castellsagué,  J. Liu,  A. Volenik,  S. Giroux,  R. Gagné,  B. Maranda,  A. Roussel-Jobin,  J. Latreille,  R. Laframboise,  L. Palma,  L. Kasprzak,  V.A. Marcus,  M. Breguet,  S. Nolet,  Z. El-Haffaf,  K. Australie,  A. Gologan,  O. Aleynikova,  K. Oros-Klein,  C. Greenwood,  A.M. Mes-Masson,  D. Provencher,  M. Tischkowitz,  G. Chong,  F. Rousseau,  W.D. Foulkes, 
  • Pages: 536-542
  • First Published: 16 October 2014
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Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors

M. Pineda,  M. González-Acosta,  B.A. Thompson,  R. Sánchez,  C. Gómez,  J. Martínez-López,  J. Perea,  T. Caldés,  Y. Rodríguez,  S. Landolfi,  J. Balmaña,  C. Lázaro,  L. Robles,  G. Capellá,  D. Rueda, 
  • Pages: 543-548
  • First Published: 25 July 2014
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Genetic features of Lynch syndrome in the Israeli population

Y. Goldberg,  I. Barnes-Kedar,  I. Lerer,  N. Halpern,  M. Plesser,  A. Hubert,  L. Kadouri,  H. Goldshmidt,  I. Solar,  H. Strul,  G. Rosner,  H.N. Baris,  T. Peretz,  Z. Levi,  R. Kariv, 
  • Pages: 549-553
  • First Published: 28 November 2014

REVIEW

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Detecting somatic mosaicism: considerations and clinical implications

A.S.A. Cohen,  S.L. Wilson,  J. Trinh,  X.C. Ye, 
  • Pages: 554-562
  • First Published: 15 September 2014

ORIGINAL ARTICLE

Open Access

Help or hindrance: young people's experiences of predictive testing for Huntington's disease

K. Forrest Keenan,  L. McKee,  Z. Miedzybrodzka, 
  • Pages: 563-569
  • First Published: 30 May 2014

SHORT REPORTS

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Determination of the allelic frequency in Smith–Lemli–Opitz syndrome by analysis of massively parallel sequencing data sets

J.L. Cross,  J. Iben,  C.L. Simpson,  A. Thurm,  S. Swedo,  E. Tierney,  J.E. Bailey-Wilson,  L.G. Biesecker,  F.D. Porter,  C.A. Wassif, 
  • Pages: 570-575
  • First Published: 09 May 2014
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Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies

S. Brasil,  E. Richard,  A. Jorge-Finnigan,  F. Leal,  B. Merinero,  R. Banerjee,  L.R. Desviat,  M. Ugarte,  B. Pérez, 
  • Pages: 576-581
  • First Published: 12 May 2014
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BRCA2 gene: a candidate for clinical testing in familial colorectal cancer type X

P. Garre,  L. Martín,  J. Sanz,  A. Romero,  A. Tosar,  I. Bando,  P. Llovet,  P. Diaque,  B. García-Paredes,  E. Díaz-Rubio,  M. de la Hoya,  T. Caldés, 
  • Pages: 582-587
  • First Published: 12 May 2014
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Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations

X. Gu,  L. Guo,  H. Ji,  S. Sun,  R. Chai,  L. Wang,  H. Li, 
  • Pages: 588-593
  • First Published: 22 May 2014
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A cohort study of MFN2 mutations and phenotypic spectrums in Charcot–Marie–Tooth disease 2A patients

B.-O. Choi,  K. Nakhro,  H.J. Park,  Y.S. Hyun,  J.H. Lee,  S. Kanwal,  S.-C. Jung,  K.W. Chung, 
  • Pages: 594-598
  • First Published: 23 May 2014

LETTERS TO THE EDITOR

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Bioinformatics evaluation of NPHS2 deletion mutation associated with congenital nephrotic syndrome in a consanguineous Pakistani family

A. Hameed,  A. Mir,  M. Nasir,  M. Ajmal, 
  • Pages: 599-601
  • First Published: 21 August 2014
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Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome

D. Oz-Levi,  B. Weiss,  A. Lahad,  S. Greenberger,  B. Pode-Shakked,  R. Somech,  T. Olender,  P. Tatarsky,  D. Marek-Yagel,  E. Pras,  Y. Anikster,  D. Lancet, 
  • Pages: 602-603
  • First Published: 21 October 2014