How did it get its name? APC is short for adenomatous polyposis coli. The APC gene is mutated in familial adenomatous polyposis, a hereditary form of colon cancer. Carriers of APC mutations develop thousands of colon tumours, some of which inevitably progress to malignancy. Inactivating mutations in APC are also found in the large majority of sporadic colon cancers. APC is therefore an importan...

Hereditary diffuse gastric cancer (HDGC) is a rare signet-ring cell adenocarcinoma (SRCC) linked to CDH1 (E-cadherin) inactivating germline mutations, and increasingly other gene mutations. Female mutation carriers have additional risk of lobular breast cancer. Risk management includes prophylactic total gastrectomy (PTG). The utility endoscopic surveillance unclear, as early disease lacks macr...

The cluster of virulence sensor (CovS)/responder (CovR) two-component operon (CovRS) regulates ∼15% of the genes of the Group A Streptococcal pyogenes (GAS) genome. Bacterial clones containing inactivating mutations in the covS gene have been isolated from patients with virulent invasive diseases. We report herein an assessment of the nature and types of covS mutations that can occur in both vi...

conclusions these data will be beneficial for designing more advanced antibodies for the recognition of the hbsag in diagnostics. in addition, the results of this study may assist in the design or development of more effective hepatitis b vaccines. results the g145r mutation causes a considerable reduction in the immunogenic activity of the hbsag through a conformational change in the hbsag ant...

Abstract The enzyme catalysing the removal of N‐linked glycans from misfolded glycoproteins in cytosol is an evolutionary well‐conserved glycanase called Peptide: N ‐glycanase (PNGase; NGLY1 humans). hydrolyses amide bond between Asn and proximal ‐acetylglucosamine (GlcNAc) attached N‐glycan, thereby converting that particular to Asp. Loss due heterozygous‐inactivating mutations cause a rare co...

Women harbouring inactivating mutations in luteinizing hormone (LH) beta subunit ( LHB ) or LH receptor ( LHCGR ) genes have similar clinical manifestations characterized by female external genitalia, spontaneous breast and pubic hair development at puberty, and normal or late menarche followed by oligo-amenorrhea and infertility. Oestradiol and progesterone levels are normal for the early to m...