Msh6
- Known as:
- Msh6
- Catalog number:
- 044139A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- Msh6
Related genes to: Msh6
- Gene:
- MSH6 NIH gene
- Name:
- mutS homolog 6
- Previous symbol:
- GTBP
- Synonyms:
- -
- Chromosome:
- 2p16.3
- Locus Type:
- gene with protein product
- Date approved:
- 1995-08-29
- Date modifiied:
- 2019-04-23
Related products to: Msh6
Related articles to: Msh6
- Microsatellite instability-high (MSI-H) colorectal cancers demonstrate significant responses to immune checkpoint inhibitors. Lynch syndrome, caused by germline mismatch repair gene mutations, typically presents with MSI-H tumours. We report a remarkable case of complete pathological response to pembrolizumab in a young patient with extensive Lynch syndrome-associated metastatic colorectal cancer. A woman in her early 30s with a strong family history of malignancy presented with progressive fatigue and anaemia. Investigations revealed moderately differentiated adenocarcinoma of the hepatic flexure with extensive metastatic disease, including innumerable liver metastases, retroperitoneal lymphadenopathy, and ascites. Molecular testing demonstrated MSI-H status with loss of MutS Homolog 2 (MSH2) and MutS Homolog 6 (MSH6) expression, v-Raf murine sarcoma viral oncogene homolog B (BRAF) wild-type, consistent with Lynch syndrome. Baseline carcinoembryonic antigen (CEA) was approximately 272 ng/mL. In a healthy adult who smokes, CEA is considered within normal limits at a level less than or equal to 5 ng/ml. Given the MSI-H phenotype, first-line pembrolizumab immunotherapy was commenced rather than conventional chemotherapy. The patient demonstrated a dramatic, sustained response over 24 months of pembrolizumab. CEA declined from approximately 300 ng/mL to 1.0 ng/mL. Serial imaging showed progressive tumour reduction with transformation of solid liver metastases into cystic lesions. Post-treatment Positron Emission Tomography-Computed Tomography (PET-CT) demonstrated a complete metabolic response. Following the completion of immunotherapy, the patient underwent right hemicolectomy. Histopathological examination revealed no viable cancer cells in the entire surgical specimen, confirming complete pathological response (ypT0, ypN0, R0). Immune-related adverse events were manageable and did not require treatment discontinuation. The patient remains under active surveillance with stable residual cystic liver lesions and no evidence of disease progression. This case demonstrates that complete pathological responses to pembrolizumab are achievable in MSI-H metastatic colorectal cancer. Universal MSI/mismatch repair (MMR) testing is essential to identify candidates for first-line immunotherapy, and Lynch syndrome should be considered in young patients with MSI-H tumours and a family history of malignancy. - Source: PubMed
Publication date: 2026/04/15
Niazi MuhammadCrossley Richard - Clinical guidelines recommend hereditary cancer risk assessment (HCRA) to identify candidates for genetic counselling and testing based on personal and family history. Incorporating genetic testing into HCRA improves risk stratification and management. We previously showed that process improvements increase genetic testing completion rates. This study describes outcomes of routine genetic testing in a community obstetrics and gynaecology (OB/GYN) setting. - Source: PubMed
Publication date: 2026/05/13
Waldman RichardDeFrancesco MarkFeltz JohnWelling DanielNeiman WadeSmith EdithSchneider LoganLenz LaurenJohansen Taber KatherineAdkins Royce - Synchronous colorectal cancers (SCRCs) with discordant mismatch repair (MMR) status present unique clinical and therapeutic challenges. This case report describes a rare instance of synchronous ascending colon and rectal adenocarcinomas arising from distinct tumorigenic pathways (Lynch-like syndrome and serrated pathway). We aim to explore the mechanism underlying MMR status heterogeneity, and emphasize the clinical value of lesion-specific molecular profiling combined with regional metastatic lymph node MMR phenotyping for individualized treatment of this condition. - Source: PubMed
Publication date: 2026/04/27
Chen DamingZhang JianshengBi JinchaoBai ZhiyueZhang LeiBai Jingzhen - Chromosome 2p21 harbors , a major driver gene for holoprosencephaly (HPE). Large copy number variants (CNVs) overlapping 2p21p16.2 are rare and may present with pleiotropic congenital anomalies. - Source: PubMed
Publication date: 2026/03/11
Keçeci RamazanKeçeci Hayriye NerminBüyükeren MelekYılmaz Fatma HilalÖzcan Beyza - A subset of triple negative breast cancer (TNBC) patients shows resistance to standard neoadjuvant chemotherapy (NAC), resulting in high relapse and mortality risk. This highlights the need for predictive biomarkers and alternative treatment strategies. Targeted molecular profiling was performed on post-NAC resection specimens from 138 TNBC patients, diagnosed across multiple centers between 2013 and 2022, all exhibiting extensive poor response, defined as >50% residual tumor and the development of distant metastasis. Integrated immunohistochemistry and genomic analyses were conducted to identify potentially targetable alterations. Most post-NAC TNBCs (60%) were HER2-ultralow or HER2-low. Among 85 patients with successful DNA sequencing, 2640 variants were detected, with TP53 mutations being most frequent (94%). Mutation count ranged from 3 to 1668 per patient (median n = 11). Several altered genes, including ERBB2, BRCA1/2, PIK3CA, and RB1, have been associated with favorable responses to targeted therapeutics in clinical trials. Moreover, 208 potential neo-peptide targets (median per patient n = 3) were detected across recurrently mutated genes such as ATM, CREBBP, IRS2, KEAP1, MSH6, NOTCH1, NOTCH2, POLD1, TP53, and TSC2. Molecular profiling of residual disease in extensively poor responding TNBC post-NAC revealed multiple potentially targetable variant, supporting the use of next-generation sequencing to guide personalized strategies for these high-risk TNBC patients. - Source: PubMed
Publication date: 2026/05/13
van den Ende Nadine SSmid MarcelMartens John W MDebets RenoJager Agnesvan Deurzen Carolien H M