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Medeni Med J 2022 Jun;37(2):150-158

Marmara University Faculty of Medicine, Department of Medical Genetics, Istanbul, Turkey.

Objective: Hereditary cancer syndromes (HCSs) are a heterogenous group of disorders caused by germline pathogenic variations in various genes that function in cell growth and proliferation. This study aimed to describe the germline variations in patients with hereditary cancer using multigene panels.

Methods: The molecular and clinical findings of 218 patients with HCS were evaluated. Read More

Biomed Res Int 2022 13;2022:2684065. Epub 2022 Jun 13.

Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Background: Gastric cancer (GC) is a major cause of cancer-related death in China. Immunotherapies based on PD-1/PD-L1 inhibitors have improved the survival of some patients with GC. Epstein-Barr virus (EBV) infection, mismatch repair (MMR) deficiency, and tumor immune microenvironment (TIME) markers (such as CD3, CD8, and PD-L1) may help to identify specific patients who will respond to PD-1/PD-L1 inhibitors. Read More

Fam Cancer 2022 Jun 23. Epub 2022 Jun 23.

Department of Pathology, The Ohio State University Wexner Medical Center, Optometry Clinic and Health Science Faculty Office Building, 1664 Neil Avenue, Suite 6100, Columbus, OH, 43210, USA.

Universal tumor screening (UTS) for Lynch syndrome (LS) on colorectal cancer (CRC) can be performed on biopsies or resection specimens. The advantage of biopsies is the chance to provide preoperative genetic counseling/testing (GC/T) so patients diagnosed with LS can make informed decisions regarding resection extent. We evaluated utilization of UTS on biopsies, percentage of patients with deficient mismatch repair (dMMR) who underwent GC/T preoperatively, and whether surgical/treatment decisions were impacted. Read More

J Immunother Cancer 2022 Jun;10(6)

University Hospital Heidelberg, Institute of Pathology, Department of Applied Tumor Biology, Heidelberg, Germany.

The development of cancer vaccines to induce tumor-antigen specific immune responses was sparked by the identification of antigens specific to or overexpressed in cancer cells. However, weak immunogenicity and the mutational heterogeneity in many cancers have dampened cancer vaccine successes. With increasing information about mutational landscapes of cancers, mutational neoantigens can be predicted computationally to elicit strong immune responses by CD8 +cytotoxic T cells as major mediators of anticancer immune response. Read More

BMC Vet Res 2022 Jun 18;18(1):230. Epub 2022 Jun 18.

Laboratory of Veterinary Pathology, Joint Department of Veterinary Medicine, Faculty of Applied Biological Sciences, Gifu University, 1-1 Yanagido, Gifu, 501-1193, Japan.

Background: Cases of gastrointestinal (GI) neoplastic polyps in Jack Russell Terriers (JRTs) have increased in Japan since the late 2000s. We recently demonstrated that JRTs with GI polyps heterozygously harbor an identical germline variant in the adenomatous polyposis coli (APC) gene, c.[462_463delinsTT]; therefore, this is an autosomal dominant hereditary disease. Read More

Cancer Epidemiol Biomarkers Prev 2022 Jun 16. Epub 2022 Jun 16.

University of Exeter, Exeter, United Kingdom.

Background: In European ancestry populations, iron overload disorder Hereditary Hemochromatosis (HH) is predominantly caused by HFE p.C282Y and p.H63D mutations. Read More

JMIR Cancer 2022 Jun 15;8(2):e39180. Epub 2022 Jun 15.

Department of Health & Human Performance, York College, City University of New York, Queens, NY, United States.

Background: Colorectal cancer (CRC) is one of the leading causes of cancer death in the United States. The incidence and prevalence of CRC have historically increased with age. Although rates of CRC in the United States have been decreasing over the past decades among those aged ≥65 years, there has been an uptick among those in younger age brackets. Read More

J Oleo Sci 2022 Jun 10. Epub 2022 Jun 10.

Department of Interventional Therapy, The First Affiliated Hospital of Dalian Medical University.

In many developed countries, colorectal cancer is a leading cause of morbidity and mortality and its etiology is familiar to be a grouping of nutritional and environmental factors, less physical activity and hereditary factors. Lycoperoside H (LH) is a steroidal alkaloid saponin commonly found in the tomato and exhibited the various pharmacological effects. The aim of the current study was to scrutinized the anticancer effect of LH against 1,2‑Dimethyl Hydrazine (DMH) induced colorectal cancer (CRC) in rats. Read More

Int J Mol Sci 2022 May 31;23(11). Epub 2022 May 31.

Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, Novosibirsk 630090, Russia.

A number of mutations in the gene encoding the ribosomal protein uS10 have been found to be associated with a predisposition to hereditary non-polyposis colorectal carcinoma (CRC). We transfected HEK293T cells with constructs carrying the uS10 minigene with mutations identical to those mentioned above and examined the effects of the produced proteins on the cellular transcriptome. We showed that uS10 with mutations p. Read More

Pediatr Blood Cancer 2022 Jun 7:e29790. Epub 2022 Jun 7.

Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA.

Colorectal cancer in the pediatric population is a rare but transpirable phenomenon. The occurrence should prompt suspicion for underlying genetic mutations in the setting of a hereditary cancer predisposition syndrome. In this series, we outline three pediatric patients with colonic adenocarcinoma who were found to have one or more germline mutations. Read More

Am J Gastroenterol 2022 Jun 17;117(6):844. Epub 2022 Feb 17.

Massachusetts General Hospital, Boston, Massachusetts.

Article Title: Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer. Read More

Rev Gastroenterol Mex (Engl Ed) 2022 Jun 2. Epub 2022 Jun 2.

Departamento de Patología, Instituto Nacional de Ciencias Médicas y Nutrición «Salvador Zubirán», Mexico City, Mexico. Electronic address:

Introduction And Aims: A frequent task in the study of colorectal carcinomas (CRC) is to identify tumors harboring deficient DNA mismatch repair systems (dMMR), which are associated with microsatellite instability. Given that there is scant information on those tumors in Mexican patients, our aim was to describe their frequency, clinical and pathologic characteristics, and results, which are necessary for future trials.

Materials And Methods: A consecutive series of CRC patients, treated and followed at a tertiary care center was performed. Read More

Genes Chromosomes Cancer 2022 Jun 2. Epub 2022 Jun 2.

Department of Pathology, Northwestern University Feinberg School of Medicine, Northwestern Memorial Hospital, 251 East Huron St, Chicago, Illinois, United States.

Inflammatory leiomyosarcoma (ILMS) is a malignant neoplasm showing smooth muscle differentiation, a prominent inflammatory infiltrate, and near-haploidization. These tumors have significant pathologic and genetic overlap with the recently described "inflammatory rhabdomyoblastic tumor (IRT)", suggesting that ILMS and IRT may belong to one entity. Herein, we describe two cases of ILMS/IRT with attention to new cytogenetic and sequencing findings. Read More

Fam Cancer 2022 Jun 2. Epub 2022 Jun 2.

Colorectal Surgery, Cleveland Clinic, Cleveland, OH, USA.

Lynch syndrome (LS), the most common hereditary cause of colorectal cancer, predisposes to upper gastrointestinal neoplasia. The prevalence of Barrett's esophagus (BE) is elevated in some hereditary gastrointestinal cancer syndromes but has not been systematically evaluated in LS. We assessed the prevalence of BE, BE-related dysplasia, esophageal adenocarcinoma (EAC), and factors associated with BE in LS. Read More

Tex Heart Inst J 2022 05;49(3)

Division of Cardiovascular and Thoracic Surgery, Indiana University School of Medicine, Indianapolis, Indiana.

We present a rare case of thrombosis associated with an occult colon malignancy (Trousseau syndrome) in a 25-year-old woman who also presented with previously unidentified Lynch syndrome and acute-on-chronic thromboembolic pulmonary hypertension. Staged treatment included bilateral pulmonary endarterectomy under deep hypothermic circulatory arrest, followed 11 days later by laparoscopic subtotal colectomy and creation of a primary anastomosis. The patient tolerated both procedures well and recovered normal functional status. Read More

Surg Oncol 2022 Apr 13:101765. Epub 2022 Apr 13.

Division of Colorectal Surgery, Department of Surgery, The Ohio State Wexner Medical Center and The James Comprehensive Cancer Center, Columbus, OH, USA. Electronic address:

Approximately 5% of colorectal cancers arise within an inherited colorectal cancer syndrome, with known underlying genetic etiologies. These syndromes increase the risk of colorectal and extracolonic cancers. Identification of a specific genetic pathogenic variant defines the syndrome, and quantifies the elevated risks compared to the general population. Read More

Breast Cancer 2022 May 31. Epub 2022 May 31.

Department of Medical Genetics and Genomics, Sapporo Medical University School of Medicine, S1 W17, Chuo-ku, Sapporo, 060-8556, Japan.

Background: When considering BRCA1/2 genetic testing for diagnosis of hereditary breast and ovarian cancer (HBOC), family history (FH) of breast and ovarian cancer is commonly considered. However, FH of other HBOC-related cancers, such as prostate, pancreatic, and skin cancer (malignant melanoma), is often overlooked.

Methods: Among 945 patients who received genetic testing of BRCA1/2 at our hospital between October 2010 and September 2021, we compared the FH of 123 patients diagnosed with HBOC and 669 other patients who had breast cancer and had a documented FH. Read More

Asian Pac J Cancer Prev 2022 05 1;23(5):1517-1522. Epub 2022 May 1.

Training and Scientific Research Department, University Medical Center, University of Medicine and Pharmacy at Ho Chi Minh City, Vietnam.

Background: Familial adenomatous polyposis (FAP) is a hereditary disorder primarily caused by germline mutations in the APC gene. The most common type of mutation in the APC gene is point mutation, while deletion mutation is much less frequent. The current study was conducted to investigate the mutation spectrum of the APC gene in Vietnamese FAP patients. Read More

Int J Mol Sci 2022 May 20;23(10). Epub 2022 May 20.

Department of Molecular Biology of Cancer, Institute of Experimental Medicine of the Czech Academy of Sciences, Videnska 1083, 142 00 Prague, Czech Republic.

Oxidative stress, oxidative DNA damage and resulting mutations play a role in colorectal carcinogenesis. Impaired equilibrium between DNA damage formation, antioxidant status, and DNA repair capacity is responsible for the accumulation of genetic mutations and genomic instability. The lesion-specific DNA glycosylases, e. Read More

Mol Clin Oncol 2022 Jun 6;16(6):107. Epub 2022 May 6.

Department of Surgery, Moriguchi Keijinkai Hospital, Moriguchi, Osaka 570-0021, Japan.

Desmoid tumors are benign proliferations of spindle cells originating in fibro-aponeurotic tissue. Many patients with familial adenomatous polyposis (FAP) die from desmoid tumors, which can arise spontaneously but often appear to be surgically induced by prophylactic colectomy. Desmoid tumors are the second most common cause of death in patients with FAP, second to colorectal cancer. Read More

BMC Gastroenterol 2022 May 20;22(1):256. Epub 2022 May 20.

University Research Clinic for Cancer Screening, Department of Public Health Programmes, Randers Regional Hospital, Skovlyvej 15, 8930, Randers NØ, Denmark.

Background: Guidelines on colorectal cancer (CRC) screening recommend screening of average-risk adults only. In addition, screening of individuals with active inflammatory bowel disease (IBD) might result in too many false-positive cases. However, the organisers of CRC screening programmes are often uninformed of whom to exclude due to an elevated CRC risk or active IBD. Read More

Obstet Gynecol 2022 04;139(4):696

JAMA Netw Open 2022 May 2;5(5):e2213070. Epub 2022 May 2.

Department of Investigational Cancer Therapeutics, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston.

Importance: Germline testing guidelines are suggested for specific disease types or a family history of cancer, yet alterations are found in cancer types in which germline testing is not routinely indicated. The clinical role of identifying germline variants in these populations is valuable to patients and their at-risk relatives.

Objective: To evaluate the prevalence of germline findings in patients undergoing tumor/normal matched sequencing among cancer types lacking guidelines. Read More

Microbiol Spectr 2022 May 19:e0105522. Epub 2022 May 19.

Department of Medicine, Johns Hopkins University School of Medicinegrid.471401.7, Baltimore, Maryland, USA.

Enterotoxigenic Bacteroides fragilis (ETBF) is consistently found at higher frequency in individuals with sporadic and hereditary colorectal cancer (CRC) and induces tumorigenesis in several mouse models of CRC. However, whether specific mutations induced by ETBF lead to colon tumor formation has not been investigated. To determine if ETBF-induced mutations impact the gene, and other tumor suppressors or proto-oncogenes, we performed whole-exome sequencing and whole-genome sequencing on tumors isolated after ETBF and sham colonization of and VC mice, as well as whole-genome sequencing of organoids cocultured with ETBF. Read More

World J Gastrointest Oncol 2022 Apr;14(4):833-841

Department of Colorectal Surgery, Luton & Dunstable University Hospital NHS Foundation Trust, Luton LU4 0DZ, United Kingdom.

Incidence of colorectal cancer (CRC) is on rise. While approximately 70% of all CRC cases are sporadic in nature, 20%-25% have familial aggregation and only < 5% is hereditary in origin. Identification of individuals with hereditary predilection for CRC is critical, as it has an impact on their overall surgical management including surgical timing, approach & technique and determines the role of prophylactic surgery and outcome. Read More

Nat Commun 2022 May 17;13(1):2710. Epub 2022 May 17.

Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.

Lynch Syndrome (LS) is an autosomal dominant disease conferring a high risk of colorectal cancer due to germline heterozygous mutations in a DNA mismatch repair (MMR) gene. Although cancers in LS patients show elevated somatic mutation burdens, information on mutation rates in normal tissues and understanding of the trajectory from normal to cancer cell is limited. Here we whole genome sequence 152 crypts from normal and neoplastic epithelial tissues from 10 LS patients. Read More

Hematol Oncol Clin North Am 2022 06 13;36(3):449-470. Epub 2022 May 13.

UTHealth School of Public Health, Suite 2618, 7000 Fannin Street, Houston, TX 77030, USA. Electronic address:

Contrary to decreasing incidence rate of colorectal cancer (CRC) in older adults, incidence rates have nearly doubled in younger adults (age <50 years) in the United States since the early 1990s. A similar increase has been observed across the globe. Despite overall population trends in aging, about 15% of CRCs will be diagnosed in younger adults by 2030. Read More

Hematol Oncol Clin North Am 2022 06 13;36(3):429-447. Epub 2022 May 13.

Division of Gastroenterology, Hepatology & Nutrition, The Ohio State University Wexner Medical Center, 395 W 12th Avenue, Second Floor, Columbus, OH 43210, USA. Electronic address: https://twitter.com/docstanich.

Around 10% to 16% of colorectal cancer patients have a pathogenic variant in a cancer susceptibility gene. Some of these variants are in cancer genes that are associated with colorectal cancer while others are not. The hereditary colorectal cancer syndromes can be divided into two major categories, the nonpolyposis and the polyposis conditions. Read More

Exp Oncol 2022 05;44(1):52-59

University of Information Technology and Management, Rzeszow 35-225, Poland.

Aim: To determine the frequency of NOD2 gene c.3019-3020insC (rs5743293) and c.2104C>T (rs2066844) allelic variants in the patients with Crohn's disease (CD), colorectal cancer (CRC) and in the control groups and to study the association of these mutations with the onset time of the diseases, gender and surgical interventions. Read More

Neurol India 2022 Mar-Apr;70(2):772-774

Department of Pediatric Hematology and Oncology, Tata Medical Center, Kolkata, West Bengal, India; Division of Hematology and Oncology; Peter Gilgan Center for Research and Learning, The Hospital for Sick Children, Toronto, Canada.

We report a case of a 9-year-old boy with glioblastoma with a past history of colon cancer. Germline bi-allelic DNA-mismatch repair deficiency was diagnosed by a lack of immunohistochemical staining for PMS2 in the tumor and normal tissue. Family history was lacking. Read More