Ask about this productRelated genes to: DPC4 antibody
- Gene:
- SMAD4 NIH gene
- Name:
- SMAD family member 4
- Previous symbol:
- MADH4
- Synonyms:
- DPC4
- Chromosome:
- 18q21.2
- Locus Type:
- gene with protein product
- Date approved:
- 1996-11-15
- Date modifiied:
- 2019-04-23
Related products to: DPC4 antibody
Related articles to: DPC4 antibody
- Germline and somatic cancer variants in tumor suppressor genes (TSGs) share loss of function mechanisms with studies of a few genes ( , ) highlighting differences in variant consequence and location. To systematically assess whether TSGs display distinct mutational patterns we leveraged large public genetic databases and compared high-quality pathogenic/likely pathogenic (P/LP) germline variants in ClinVar, with oncogenic/likely oncogenic (O/LO) somatic tumor variants from cBioPortal across 40 TSGs. We obtained 32,941 P/LP germline and 12,907 O/LO somatic variants. Only 3,863 (9.2%) variants were shared. Eighteen TSGs showed significant differences in distributions of variant occurrences by consequence replicated with non-overlapping somatic data from the COSMIC database (chi-squared tests, false discovery rate=5%). , , and displayed excess somatic missense events, while 9 TSGs (e.g., , ) contained excess somatic stop-gains throughout the coding sequence. Analysis of tumor type revealed excess stop-gains in tissues exposed to environmental mutagens with corresponding mutation signatures. Germline and somatic events also distributed unevenly across cDNA location with 103 regions of preferential clustering in 39 TSGs (78 somatic, 25 germline). Twenty somatic clusters overlapped recurring frameshifts in homopolymer runs, many in tumors with microsatellite instability. Germline clusters contain more germline-exclusive variants, some driving non-cancer phenotypes reflecting genetic pleiotropy. In some TSGs ( ), germline variants predispose to tumors representing a minority of somatic data. Altogether, germline and somatic variants of TSGs represent unique sets with substantially different patterns shaped by selection pressures including environmental, phenotypic, and functional mechanisms. Characterizing these distinctions enables more accurate clinical interpretation of cancer variants. - Source: PubMed
Publication date: 2026/02/28
Lulla Suhasini DRitter Deborah IKesserwan ChimenePlon Sharon E - Undifferentiated carcinoma with osteoclast-like giant cells (UCOGC) is a rare, distinct subtype of pancreatic carcinoma, formally classified separately from undifferentiated carcinoma (UC) of the pancreas in the World Health Organization's 2010 and 2019 revisions. Whereas classic UC is associated with a poor prognosis and low survival rates, recent studies suggest that patients with UCOGC experience significantly longer survival and more frequent diagnosis at surgically resectable stages. Molecular profiling reveals that UCOGC consistently harbors canonical mutations in KRAS, CDKN2A, TP53, and SMAD4, aligning its classification within pancreatic ductal adenocarcinoma. In addition, UCOGC demonstrates a heterogeneous molecular landscape with distinctive mutations of uncertain biological relevance. Immunologically, UCOGC is characterized by a unique tumor microenvironment, notably a deficiency in regulatory T cells (Tregs) and a relative abundance of antigen-presenting cells. Elevated expression of PD-1 within UCOGC further suggests a potential for enhanced response to PD-1-targeted immunotherapies. Collectively, these findings underscore the need for ongoing research into the molecular and immunological characteristics of UCOGC, with the aim of identifying novel biomarkers and developing targeted treatment strategies. - Source: PubMed
Publication date: 2026/05/02
Chang EricShi Jiaqi - Biological borderline resectable (BR) pancreatic ductal adenocarcinoma (PDAC) refers to anatomically resectable tumors with markedly elevated serum CA19-9 levels (≥500 U/mL). This subtype is associated with poor prognosis, yet its molecular and immunopathological features remain incompletely understood. - Source: PubMed
Publication date: 2026/05/13
Arai YuMasuda AtsuhiroTsujimae MasahiroTobimatsu KazutoshiNanno YoshihideSofue KeitaroSakai ArataKobayashi TakashiGonda MasanoriInomata NorikoMiki MikaHarada YoshiyukiJuri NorikoIrie YosukeKo TetsuhisaYokotani YusukeShirohata AkiraKanamaru KaorukoTokunaga TakafumiYamamoto KentaOkamoto KoheiOgawa KentoKawase YutaKageyama TatsuyaKodama TakayukiImai ToshioFukumoto TakumiUza NorimitsuKodama Yuzo - ERBB2 aberrations are established oncogenic drivers with validated therapeutic relevance in breast cancer and emerging indications across solid tumors. In gastrointestinal malignancies, the prevalence, molecular contexts, and therapeutic implications of ERBB2 alterations remain incompletely defined, particularly for mutation-driven (non-amplified) disease. - Source: PubMed
Publication date: 2026/05/04
Shi YinanWang XiaoxuanXi XiaotongWang MengxiaoGuo JinfangZhang XingChen DongshengYang Wenhui - Factor XIII deficiency (FXIIID) is a rare coagulation disorder that can cause severe or delayed bleeding and impair wound healing despite normal routine coagulation test results. Congenital FXIIID is caused by homozygous germline pathogenic variants of or . Herein, we report the successful treatment of a patient with FXIIID who underwent surgery for juvenile polyposis syndrome (JPS)-associated early gastric cancer. - Source: PubMed
Publication date: 2026/05/01
Saito ToshifumiIshiguro ToruIshida HideyukiKiuchi KurumiIrie NaokoIshikawa HiroyasuChiyonobu NorimichiIto TetsuyaMori YoshikoKumagai YouichiTanabe Noriko