Cancers, Vol. 15, Pages 3570: Completion of Genetic Testing and Incidence of Pathogenic Germline Mutation among Patients with Early-Onset Colorectal Cancer: A Single Institution Analysis
This study reinforces the importance for all patients with CRC, especially those with eoCRC, to undergo germline testing. (Source: Cancers)
Source: Cancers - July 11, 2023 Category: Cancer & Oncology Authors: Michael H. Storandt Kara R. Rogen Anushka Iyyangar Rylie R. Schnell Jessica L. Mitchell Joleen M. Hubbard Frank A. Sinicrope Aminah Jatoi Amit Mahipal Qian Shi Zhaohui Jin Tags: Article Source Type: research
Immune escape and resistance to immunotherapy in mismatch repair deficient tumors
Up to 30% of colorectal, endometrial and gastric cancers have a deficiency in mismatch repair (MMR) protein expression due to either germline or epigenetic inactivation. Patients with Lynch Syndrome who inherit an inactive MMR allele have an up to 80% risk for developing a mismatch repair deficient (MMRd) cancer. Due to an inability to repair DNA, MMRd tumors present with genomic instability in microsatellite regions (MS). Tumors with high MS instability (MSI-H) are characterized by an increased frequency of insertion/deletions (indels) that can encode novel neoantigens if they occur in coding regions. The high tumor antig...
Source: Frontiers in Immunology - July 10, 2023 Category: Allergy & Immunology Source Type: research
Recurrent papillary bladder tumors in a boy with Lynch syndrome
Lynch syndrome (LS) is an autosomal dominant genetic disorder defined by germline mutations in one of four mismatch repair (MMR) genes including PMS2, MLH2, MSH1, MSH2 or deletion in the EPCAM gene. [1] The most common urologic manifestation of LS is upper tract urothelial carcinoma (UTUC), which occurs in up to 20% of patients with LS. [2] While data are scarce, there is growing evidence of an increased relative risk of bladder malignancy in patients with LS. [3, 4] Bladder tumors in children are a rare entity and the link between pediatric bladder tumors and LS has not been previously reported to our knowledge. (Source: Urology)
Source: Urology - July 5, 2023 Category: Urology & Nephrology Authors: Rafael Tua-Caraccia, Austin Livingston, Jonathan C. Routh Source Type: research
Mutational pattern off homologous recombination repair (HRR) ‐related genes in upper tract urothelial carcinoma
ConclusionsOur results imply that the detection of HRR gene mutations can predict recurrence in patients with UC. In addition, this study provides a path to explore the role of HRR-directed therapies, including PARPis, chemotherapy, and immunotherapy. (Source: Cancer Medicine)
Source: Cancer Medicine - June 30, 2023 Category: Cancer & Oncology Authors: Kaiwei Yang,
Wei Yu,
Huanhuan Liu,
Feng Lou,
Shanbo Cao,
Huina Wang,
Zhisong He Tags: RESEARCH ARTICLE Source Type: research
