Ask about this productRelated genes to: MLH1 antibody
- Gene:
- MLH1 NIH gene
- Name:
- mutL homolog 1
- Previous symbol:
- COCA2
- Synonyms:
- HNPCC, FCC2, HNPCC2
- Chromosome:
- 3p22.2
- Locus Type:
- gene with protein product
- Date approved:
- 1993-11-24
- Date modifiied:
- 2019-04-23
Related products to: MLH1 antibody
Related articles to: MLH1 antibody
- To assess the prevalence of pathogenic germline variants (gPVs) and indications for testing in a diverse community-based endometrial cancer population. - Source: PubMed
Publication date: 2026/10/01
Suh-Burgmann ElizabethFinertie HollyHung Yun-YiHoodfar ElizabethCarwana HollyZhong HaoyuanNau ClaudiaSchmittdiel Julie - Early-onset colorectal cancer (EOCRC), defined as CRC diagnosed before age 50, is rising globally. The genomic landscape of EOCRC has been characterized in several prior studies, but the reproducibility of findings across independent cohorts, the impact of adjustment for tumor stage and sample type, and the specificity of prognostic biomarkers to the EOCRC subgroup remain incompletely defined. Furthermore, BRAF mutation frequency is strongly modified by tumor location, which is often not considered in prior analyses. - Source: PubMed
Publication date: 2026/10/01
Sertesen Çamöz ElifKaya Osman BilgeErçelebi HakanKaraçin CengizTerzi Yunus KasımYılmaz Çelik Zerrin - DNA methylation profiling of CNS tumors led to the identification of HPAP (high-grade glioma with pleomorphic and pseudopapillary features), a recently proposed entity with variable morphology, recurrent MAP-kinase pathway activating events, and longer survival compared to glioblastoma. We aimed to independently validate and further characterize this entity. We retrieved a multicentric cohort of gliomas compatible with HPAP and performed t-SNE dimensionality reduction on their DNA methylation profile. Clinical, radiological, histological, and molecular data were reviewed. Twenty tumors clustering with previously reported HPAP cases were identified. Median age at diagnosis was 37 years. Radiologically, the tumors appeared as expansive lesions with heterogeneous enhancement and frequent cysts. Histologically, they were well-circumscribed, with papillary and pleomorphic features variably present. Marked histological signs of aggressivity were present in seven. Immunostainings showed expression of GFAP, OLIG2, and CD34. All cases were IDH1/2 wildtype and pMGMT unmethylated. Recurrently mutated genes included TP53, ATRX, RB1, and BRAF. Five patients had germline pathogenic variants in genes associated with hereditary tumor predisposition syndromes (MLH1, BRCA2, CHEK2, NF2, RB1). All patients underwent surgical resection, but subsequent management was heterogeneous. Ten-year estimated survival was 85%. CDKN2A homozygous deletion seemed to identify more aggressive tumors. In conclusion, our data suggest the existence of a novel entity of circumscribed gliomas with long-term survival despite possible high-grade histological presentation, for which we propose the nomenclature "Gliomas with pleomorphic and pseudopapillary features" with a spectrum encompassing provisory grade 2 and 3. A proper identification could guide treatment choices. - Source: PubMed
Publication date: 2026/09/29
Picca AlbertoBarresi ValeriaTrinquet AudeBertero LucaNichelli LuciaChotard GuillaumeBernier MichèleGareau ThomasKacimi Salah Eddine OussamaBhalshankar JayduttFilser MathildeMasliah-Planchon JulienIollo MartaMalaize HenriMathon BertrandBauchet LucKhouri KifahBarka BesmaMadry HélèneRossi SabrinaMiele EvelinaRicciardi Giuseppe KennethCarpentier CatherineCoin IrinaSanson MarcTouat MehdiDehais CarolinePellerino AlessiaRudà RobertaCassoni PaolaRigau ValérieUro-Coste EmmanuelleMokhtari KarimaIdbaih AhmedBenusiglio Patrick RBielle Franck - Appendiceal neoplasms are a group of rare, heterogeneous tumors that exhibit varying malignant potential. Systemic treatment options for disseminated appendiceal cancer are limited. We sought to review rates of mutations that may indicate potential roles for routine next-generation sequencing to identify targetable therapies. - Source: PubMed
Publication date: 2026/09/29
Zheng-Pywell RuiLumia Salvatore JFelipe Heidy CosGironda Daniel JMiller Lance DLevine Edward A - Colorectal carcinoma (CRC) metastatic to the breast is exceedingly rare, with 46 cases compiled in a 2019 literature review and additional isolated reports since. The diagnostic challenge is substantially amplified in patients with a prior breast cancer history, in whom new breast lesions are reflexively attributed to recurrence rather than extramammary metastasis. A 71-year-old woman with a significant family history of malignancy presented with invasive lobular carcinoma of the left breast, treated with lumpectomy and hormonal therapy. Four months later, she was diagnosed with stage I endometrioid adenocarcinoma of the uterus; immunohistochemistry of the hysterectomy specimen revealed isolated PMS2 loss with preserved MLH1, MSH2, and MSH6 expression, and comprehensive germline testing of 35 hereditary cancer predisposition genes was negative, establishing a Lynch-like phenotype in that tumor. Approximately four years after her breast cancer diagnosis, she developed a maculopapular rash with skin thickening of the left breast, without a discrete mass; the clinical and mammographic presentation was concerning for inflammatory breast carcinoma. Punch biopsy demonstrated poorly differentiated adenocarcinoma with signet ring cell features, immunohistochemically positive for SATB2, CDX2, CK20, and CEA and negative for CK7, ER, PR, HER2, and GATA3, confirming colorectal origin and excluding breast cancer recurrence. Mismatch repair immunohistochemistry on the same specimen demonstrated retained expression of all four proteins, discordant with the endometrial primary and concordant with microsatellite instability-stable status and a tumor mutational burden of 3.7 mutations/Mb. Next-generation sequencing identified a TP53 splice region loss-of-function variant with RAS and BRAF wild-type status. Positron emission tomography revealed stage IV disease with hepatic metastasis, and colonoscopy identified synchronous cecal and recto-sigmoid masses. She was treated with four lines of systemic therapy and palliative radiation to the breast, and died approximately 20 months after the metastatic diagnosis. This case illustrates two points. First, any new breast lesion in a patient with prior malignancy requires histopathologic confirmation with comprehensive immunohistochemical analysis, as neither recurrence nor a primary breast process can be assumed. Second, mismatch repair status is a property of the individual tumor rather than of the patient; in patients with multiple primaries, each tumor requires independent testing, and molecular findings from one cannot be extrapolated to another. - Source: PubMed
Publication date: 2026/08/28
Walters Morgan LFigueroa Quast Andres