FGFR2在疾病中的信号传导
中文名称
通路描述
FGFR2基因已被证明会发生激活突变和基因扩增，导致各种增殖和发育障碍，具体取决于这些事件是否发生在生殖系或体细胞。生殖系激活的FGFR2突变引起一系列颅骨融合障碍，包括Pfeiffer、Apert、Jackson-Weiss、Crouzon和Beare-Stevensen综合征。这些常染色体显性骨骼疾病特征为颅骨几许过早融合，在某些情况下还涉及手足并指症（手和脚的不正常骨融合）（见Webster和Donoghue, 1997; Burke, 1998; Cunningham, 2007）。体细胞激活的FGFR2突变与胃癌和子宫内膜癌的发生有关（见Greulich和Pollock, 2011; Wesche, 2011）。许多这些突变与上述常染色体疾病中贡献的突变相似或相同。值得注意的是，FGFR2的功能丧失突变最近也在黑色素瘤中被描述。FGFR2也可能通过过表达促进肿瘤发生，因为FGFR2已被鉴定为胃癌和乳腺癌中基因扩增的靶点。
英文描述
Signaling by FGFR2 in disease The FGFR2 gene has been shown to be subject to activating mutations and gene amplification leading to a variety of proliferative and developmental disorders depending on whether these events occur in the germline or arise somatically. Activating FGFR2 mutations in the germline give rise to a range of craniosynostotic conditions including Pfeiffer, Apert, Jackson-Weiss, Crouzon and Beare-Stevensen Cutis Gyrata syndromes. These autosomal dominant skeletal disorders are characterized by premature fusion of several sutures in the skull, and in some cases also involve syndactyly (abnormal bone fusions in the hands and feet) (reviewed in Webster and Donoghue, 1997; Burke, 1998; Cunningham, 2007).
Activating FGFR2 mutations arising somatically have been linked to the development of gastric and endometrial cancers (reviewed in Greulich and Pollock, 2011; Wesche, 2011). Many of these mutations are similar or identical to those that contribute to the autosomal disorders described above. Notably, loss-of-function mutations in FGFR2 have also been recently described in melanoma (Gartside, 2009). FGFR2 may also contribute to tumorigenesis through overexpression, as FGFR2 has been identified as a target of gene amplification in gastric and breast cancers (Kunii, 2008; Takeda, 2007).
Activating FGFR2 mutations arising somatically have been linked to the development of gastric and endometrial cancers (reviewed in Greulich and Pollock, 2011; Wesche, 2011). Many of these mutations are similar or identical to those that contribute to the autosomal disorders described above. Notably, loss-of-function mutations in FGFR2 have also been recently described in melanoma (Gartside, 2009). FGFR2 may also contribute to tumorigenesis through overexpression, as FGFR2 has been identified as a target of gene amplification in gastric and breast cancers (Kunii, 2008; Takeda, 2007).
所含基因
28 个基因