Germline CDKN1B/p27Kip1 Mutation in Multiple Endocrine Neoplasia | Zendy

Marianthi Georgitsi | Zendy; Anniina Raitila | Zendy; Auli Karhu | Zendy; Rob B. van der Luijt | Zendy; Cora M. Aalfs | Zendy; Timo Sane | Zendy; Outi Vierimaa | Zendy; Markus J. Mäkinen | Zendy; Karoliina Tuppurainen | Zendy; R Paschke | Zendy; Oliver Gimm | Zendy; Christian A. Koch | Zendy; Sadi Gündoğdu | Zendy; Anneke Lucassen | Zendy; Marc Tischkowitz | Zendy; Louise Izatt | Zendy; Simon Aylwin | Zendy; Gul Bano | Zendy; Shirley Hodgson | Zendy; Ernesto De Menis | Zendy; Virpi Laun | Zendy; Pia Vahteristo | Zendy; Lauri A. Aaltonen | Zendy

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Germline CDKN1B/p27Kip1 Mutation in Multiple Endocrine Neoplasia

Author(s) -

Marianthi Georgitsi,

Anniina Raitila,

Auli Karhu,

Rob B. van der Luijt,

Cora M. Aalfs,

Timo Sane,

Outi Vierimaa,

Markus J. Mäkinen,

Karoliina Tuppurainen,

R Paschke,

Oliver Gimm,

Christian A. Koch,

Sadi Gündoğdu,

Anneke Lucassen,

Marc Tischkowitz,

Louise Izatt,

Simon Aylwin,

Gul Bano,

Shirley Hodgson,

Ernesto De Menis,

Virpi Laun,

Pia Vahteristo,

Lauri A. Aaltonen

Publication year - 2007

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2006-2843

Subject(s) - men1 , multiple endocrine neoplasia , pituitary adenoma , germline mutation , germline , acromegaly , pituitary tumors , cancer research , adenoma , medicine , mutation , genetics , biology , gene , hormone , growth hormone

Germline mutations in the MEN1 gene predispose to multiple endocrine neoplasia type 1 (MEN1) syndrome, but in up to 20-25% of clinical MEN1 cases, no MEN1 mutations can be found. Recently, a germline mutation in the CDKN1B gene, encoding p27(Kip1), was reported in one suspected MEN1 family with two acromegalic patients.

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