<i>SRGAP1</i>Is a Candidate Gene for Papillary Thyroid Carcinoma Susceptibility

He, Hao; Bronisz, Agnieszka; Liyanarachchi, Sandya; Nagy, Rebecca; Li, Wei; Huang, Yungui; Akagi, Keiko; Saji, Motoyasu; Kula, Dorota; Wójcicka, Anna; Sebastian, Nikhil; Wen, Bernard; Puch, Zbigniew; Kalemba, Michał; Stachlewska, Elżbieta; Czetwertyńska, Małgorzata; Długosińska, Joanna; Dymecka, Kinga; Płoski, Rafał; Krawczyk, Marek; Morrison, Patrick J.; Ringel, Matthew D.; Kloos, Richard T.; Jażdżewski, Krystian; Symer, David E.; Vieland, Veronica J.; Ostrowski, Michael C.; Jarząb, Barbara; Chapelle, Albert de la

doi:10.1210/jc.2012-3823

Cited by 78 publications

(65 citation statements)

References 28 publications

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“…The Rho family small GTPases serve as molecular switches involved in several cellular progresses 33 . It is reported that overexpression of Rho GTPases in cancers was correlated with poor prognosis 34 and that SNPs in the SRGAP1 gene were associated with papillary thyroid carcinoma 35 . As a subfamily of Rho GTPase-activating proteins, SRGAP1 is involved in regulation of the RhoA activity through interacting with CDC42 that has been proven to exert an important role in cancer development 36 .…”

Section: Discussionmentioning

confidence: 99%

Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women

Chen

et al. 2014

Nat Commun

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Ovarian cancer is the leading cause of death from gynaecological malignancies worldwide. Here we perform a three-stage genome-wide association study (GWAS) in Han Chinese women to identify risk genetic variants for epithelial ovarian cancer (EOC). We scan 900,015 single-nucleotide polymorphisms (SNPs) in 1,057 EOC cases and 1,191 controls in stage I, and replicate 41 SNPs (P meta o10 À 4 ) in 960 EOC cases and 1,799 controls (stage II), and an additional 492 EOC cases and 1,004 controls (stage III). Finally, we identify two EOC susceptibility loci at 9q22.33 (rs1413299 in COL15A1, P meta ¼ 1.88 Â 10 À 8 ) and 10p11.21 (rs1192691 near ANKRD30A, P meta ¼ 2.62 Â 10 À 8 ), and two consistently replicated loci at 12q14.2 (rs11175194 in SRGAP1, P meta ¼ 1.14 Â 10 À 7 ) and 9q34.2 (rs633862 near ABO and SURF6, P meta ¼ 8.57 Â 10 À 7 ) (Po0.05 in all three stages). These results may advance our understanding of genetic susceptibility to EOC.

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Section: Discussionmentioning

confidence: 99%

Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women

Chen

et al. 2014

Nat Commun

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“…With regard to the genetic basis, three susceptibility genes have been identified: the NKX2-1 gene (chromosome 14q13.3), which encodes the thyroid transcription factor NKX2-1 (6), DICER1 (chromosome 14q32), which encodes RNaseIII, an enzyme involved in microRNA processing (7) and SRGAP1, which regulates the small G-protein CDC42 (8). In addition, seven chromosomal loci (1p13.2-1q21, 1q21, 2q21, 6q22, 8p23.1-p22, 8q24 and 19p13.2) involved in FNMTC susceptibility have been mapped, but the causal genes remain to be identified (9,10,11,12,13,14).…”

Section: Introductionmentioning

confidence: 99%

Familial vs sporadic papillary thyroid carcinoma: a matched-case comparative study showing similar clinical/prognostic behaviour

Pinto

Silva²,

Henrique

et al. 2014

European Journal of Endocrinology

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Objective: Familial non-medullary thyroid cancer has been proposed as an aggressive clinical entity. Our aim in this study is to investigate potential distinguishing features as well as the biological and clinical aggressiveness of familial vs sporadic papillary thyroid carcinoma (PTC). We assessed clinicopathological characteristics, outcome measures and DNA ploidy. Design: A matched-case comparative study. Methods: A series of patients with familial PTC (nZ107) and two subgroups, one with three or more affected elements (nZ32) and another including index cases only (nZ61), were compared with patients with sporadic PTC (nZ107), matched by age, gender, pTNM disease extension and approximate follow-up duration. Histological variant, extrathyroidal extension, vascular invasion, tumour multifocality and bilateral growth were evaluated. Ploidy pattern was analysed in available samples by DNA flow cytometry. The probabilities of disease-free survival (DFS) and overall survival (OS) were estimated according to the Kaplan-Meier (K-M) method. Results: No patient with familial PTC died of disease during follow-up (median, 72 months), contrarily to five patients (4.7%) (PZ0.06) with sporadic PTC (median, 90 months). There was a significantly higher tumour multifocality in familial PTC (index cases subgroup) vs sporadic PTC (PZ0.035), and a trend, in the familial PTC cohort with three or more affected elements, to show extrathyroidal extension (PZ0.054) more frequently. No difference was observed in DNA ploidy status. The K-M analyses showed no significant differences between both entities in relation to DFS or OS. Conclusion: Apart from multifocality, familial PTC appears to have similar clinical/prognostic behaviour when compared with sporadic forms of the disease.

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“…One missense variant, R617C, located in the Rho GAP domain, was detected in <1% of sporadic PTC cases and controls. H875 variant was detected in >10% of sporadic PTC and control cases and did not show any significant differences between PTC cases and controls (He et al 2013a).…”

Section: :12mentioning

confidence: 78%

“…A genome-wide linkage analysis, using SNP genotyping, performed in 38 FNMTC families with PTC identified this 12q14 locus in 21 families with a posterior probability of linkage (PPL) score of 0.3 (He et al 2013a). This implies that there is a 30% probability of linkage of FNMTC to 12q14 locus.…”

Section: Srgap1mentioning

confidence: 99%

“…The reported susceptibility genes include SRGAP1 (He et al 2013a), TITF-1/NKX2-1 (Ngan et al 2009), FOXE1 (Pereira et al 2015) and telomere-telomerase complex (Capezzone et al 2008a(Capezzone et al , 2011. Chromosomal loci reported to be associated with non-syndromic FNMTC include TCO (19q13.2) (Canzian et al 1998), fPTC/ PRN (1q21) (Malchoff et al 2000), FTEN (8p23.1-p22) (Cavaco et al 2008b), NMTC1 (2q21) (McKay et al 2001), MNG1 (14q32) (Bignell et al 1997), 6q22 ), 8q24 ) and 4q32 (He et al 2013b).…”

Section: Introductionmentioning

confidence: 99%

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Familial non-medullary thyroid cancer: unraveling the genetic maze

Yang¹,

Ngeow²

2016

Endocrine-Related Cancer

101

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Familial non-medullary thyroid cancer (FNMTC) constitutes 3-9% of all thyroid cancers. Out of all FNMTC cases, only 5% in the syndromic form has well-studied driver germline mutations. These associated syndromes include Cowden syndrome, familial adenomatous polyposis, Gardner syndrome, Carney complex type 1, Werner syndrome and DICER1 syndrome. It is important for the clinician to recognize these phenotypes so that genetic counseling and testing can be initiated to enable surveillance for associated malignancies and genetic testing of family members. The susceptibility chromosomal loci and genes of 95% of FNMTC cases remain to be characterized. To date, 4 susceptibility genes have been identified (SRGAP1 gene (12q14), TITF-1/NKX2.1 gene (14q13), FOXE1 gene (9q22.33) and HABP2 gene (10q25.3)), out of which only the FOXE1 and the HABP2 genes have been validated by separate study groups. The causal genes located at the other 7 FNMTCassociated chromosomal loci (TCO (19q13.2), fPTC/ PRN (1q21), FTEN (8p23.1-p22), NMTC1 (2q21), MNG1 (14q32), 6q22, 8q24) have yet to be identified. Increasingly, gene regulatory mechanisms (miRNA and enhancer elements) are recognized to affect gene expression and FNMTC tumorigenesis. With newer sequencing technique, along with functional studies, there has been progress in the understanding of the genetic basis of FNMTC. In our review, we summarize the FNMTC studies to date and provide an update on the recently reported susceptibility genes including novel germline SEC23B variant in Cowden syndrome, SRGAP1 gene, FOXE1 gene and HABP2 genes in non-syndromic FNMTC.

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SRGAP1Is a Candidate Gene for Papillary Thyroid Carcinoma Susceptibility

Abstract: Our findings suggest that SRGAP1 is a candidate gene in PTC susceptibility. SRGAP1 is likely a low-penetrant gene, possibly of a modifier type.

Cited by 78 publications

References 28 publications

Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women

Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women

Familial vs sporadic papillary thyroid carcinoma: a matched-case comparative study showing similar clinical/prognostic behaviour

Familial non-medullary thyroid cancer: unraveling the genetic maze

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