Identification of Somatic KRAS Mutation in a Korean Baby with Nevus Sebaceus Syndrome

被引：4

作者：

Kim, Sung Woo ^{[1
]}

Song, Ju Sun ^{[3
]}

Kang, Mi Seon ^{[2
]}

Sin, Jong Beom ^{[1
]}

Ki, Chang-Seok ^{[3
]}

Jeon, Ga Won ^{[1
]}

机构：

[1] Inje Univ, Coll Med, Busan Paik Hosp, Dept Pediat, Pusan, South Korea

[2] Inje Univ, Coll Med, Busan Paik Hosp, Dept Pathol, Pusan, South Korea

[3] Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Lab Med & Genet, Seoul 135710, South Korea

来源：

ANNALS OF LABORATORY MEDICINE | 2015年 / 35卷 / 01期

关键词：

HRAS; RAS;

D O I：

10.3343/alm.2015.35.1.178

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

引用

页码：178 / 180

页数：3

共 9 条

[1] Germline mutations in HRAS proto-oncogene cause Costello syndrome [J].

Aoki, Y ;

Niihori, T ;

Kawame, H ;

Kurosawa, K ;

Filocamo, M ;

Kato, K ;

Suzuki, Y ;

Kure, S ;

Matsubara, Y .

NATURE GENETICS, 2005, 37 (10) :1038-1040

[2] Naevus sebaceus: a mosaic RASopathy [J].

Aslam, A. ;

Salam, A. ;

Griffiths, C. E. M. ;

McGrath, J. A. .

CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2014, 39 (01) :1-6

[3] Epidermal Nevi [J].

Brandling-Bennett, Heather A. ;

Morel, Kimberly D. .

PEDIATRIC CLINICS OF NORTH AMERICA, 2010, 57 (05) :1177-+

[4] Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome [J].

Groesser, Leopold ;

Herschberger, Eva ;

Ruetten, Arno ;

Ruivenkamp, Claudia ;

Lopriore, Enrico ;

Zutt, Markus ;

Langmann, Thomas ;

Singer, Sebastian ;

Klingseisen, Laura ;

Schneider-Brachert, Wulf ;

Toll, Agusti ;

Real, Francisco X. ;

Landthaler, Michael ;

Hafner, Christian .

NATURE GENETICS, 2012, 44 (07) :783-U211

[5] Nevus Sebaceus Is a Mosaic RASopathy [J].

Happle, Rudolf .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2013, 133 (03) :597-600

[6] Whole-Exome Sequencing Reveals Somatic Mutations in HRAS and KRAS, which Cause Nevus Sebaceus [J].

Levinsohn, Jonathan L. ;

Tian, Li C. ;

Boyden, Lynn M. ;

McNiff, Jennifer M. ;

Narayan, Deepak ;

Loring, Erin S. ;

Yun, Duri ;

Sugarman, Jeffrey L. ;

Overton, John D. ;

Mane, Shrikant M. ;

Lifton, Richard P. ;

Paller, Amy S. ;

Wagner, Annette M. ;

Antaya, Richard I. ;

Choate, Keith A. .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2013, 133 (03) :827-830

[7] Germline KRAS mutations cause Noonan syndrome [J].

Schubbert, S ;

Zenker, M ;

Rowe, SL ;

Böll, SB ;

Klein, C ;

Bollag, G ;

van der Burgt, I ;

Musante, L ;

Kalscheuer, V ;

Wehner, LE ;

Nguyen, H ;

West, B ;

Zhang, KYJ ;

Sistermans, E ;

Rauch, A ;

Niemeyer, CM ;

Shannon, K ;

Kratz, CP .

NATURE GENETICS, 2006, 38 (03) :331-336

[8] Ras, PI(3)K and mTOR signalling controls tumour cell growth [J].

Shaw, Reuben J. ;

Cantley, Lewis C. .

NATURE, 2006, 441 (7092) :424-430

[9] Mosaic Activating RAS Mutations in Nevus Sebaceus and Nevus Sebaceus Syndrome [J].

Sun, Bryan K. ;

Saggini, Andrea ;

Sarin, Kavita Y. ;

Kim, Jinah ;

Benjamin, Latanya ;

LeBoit, Philip E. ;

Khavari, Paul A. .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2013, 133 (03) :824-827

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