RAQUEL GÓMEZ-MOLINA^1,*, RAQUEL MARTÍNEZ^2,3,4, MIGUEL SUÁREZ^2,3,4,*, ANA PEÑA-CABIA¹, MARíA CONCEPCIóN CALDERÓN¹, JORGE MATEO^3,4

Oncology Research, Vol.33, No.7, pp. 1531-1545, 2025, DOI:10.32604/or.2025.063951 - 26 June 2025

Abstract Lynch syndrome (LS), also known as hereditary non-polyposis colorectal cancer (HNPCC), is an inherited condition associated with a higher risk of colorectal cancer (CRC) and other cancers. It is caused by germline mutations in DNA mismatch repair (MMR) genes, including MLH1, MSH2, MSH6 and PMS2. These mutations lead to microsatellite instability (MSI) and defective DNA repair mechanisms, resulting in increased cancer risk. Early detection of LS is crucial for effective management and cancer prevention. Endoscopic surveillance, particularly regular colonoscopy, is recommended for individuals with LS to detect CRC at early stages. Additionally, universal screening of CRC for More > Graphic Abstract

Jun Sung Park¹, Go Hun Seo², Yunha Choi¹, Soojin Hwang¹, Minji Kang³, Hyo-Sang Do³, Young-Hwue Kim⁴, Jeong Jin Yu⁴, Ellen Ai-Rhan Kim⁵, Euiseok Jung⁵, Byong Sop Lee⁵, Jae Suk Baek⁴, Beom Hee Lee^1,6,*

Congenital Heart Disease, Vol.17, No.6, pp. 653-673, 2022, DOI:10.32604/chd.2022.021580 - 11 October 2022

Abstract Background: Over 400 genes contribute to the development of congenital heart disease (CHD). Additionally, multisystemic manifestations accompanying syndromic CHD pose a higher risk of genetic diseases. This study investigated the diagnostic yield of whole-exome sequencing (WES) in patients with sporadic syndromic CHD and the phenotypic factors affecting the genetic diagnostic rate. Methods: Sixty-four patients with sporadic syndromic CHD aged <18 years underwent WES between May 2018 and December 2020 in a single tertiary center, and the association between genetic testing data and extracardiac phenotypes was analyzed. Results: Extracardiac phenotypes were measured as 3.66 ± 3.05 (standard deviation,… More > Graphic Abstract

Cord J. Peters¹, Clesson E. Turner², Gregory T. Chesnut^3,4, Veda N. Giri^5,6, Leonard G. Gomella⁵, Craig D. Shriver^3,7, Albert Dobi³

Canadian Journal of Urology, Vol.28, No.3, pp. 10659-10667, 2021

Abstract Introduction: The objective of our review is to summarize the 2019 Philadelphia Prostate Cancer Genetic Consensus recommendations and discuss their implications to the US Military Health System.
Materials and methods: Literature review.
Results: Our fighting force and retired service members will significantly benefit from the Philadelphia Prostate Cancer Genetic Consensus recommendations. Moreover, the experience of the equal access US Military Health System may help advancing genetic testing for cancer at national levels.
Conclusions: Priorities recommended by the 2019 Consensus for more research on genetic predisposition to prostate cancer in racially diverse populations is a promising step. The US Military More >

Gabrielle C. Geddes^1,2, Erin Syverson^1,2, Michael G. Earing^1,2

Congenital Heart Disease, Vol.14, No.5, pp. 832-837, 2019, DOI:10.1111/chd.12817

Abstract Objective: To describe the first 3 years of experience of having an inpatient “cardiogenetics” program which involves medical geneticist assessment of infants with major congenital heart disease (CHD) requiring surgical intervention in the first year of life.
Patients: Patients less than a year of age admitted to Children’s Hospital of Wisconsin’s Herma Heart Institute for surgical intervention for CHD seen by the cardiogenetics program. Patients with major trisomies (13, 18, and 21) were excluded.
Outcome Measures: Utilization and yield of genetic testing, and diagnostic rate were assessed as outcome measures and compared to a baseline time period and… More >

Veda N. Giri^1,3, Laura Gross^1,3, Leonard G. Gomella², Colette Hyatt³

Canadian Journal of Urology, Vol.23, No.2, pp. 8247-8253, 2016

Abstract Prostate cancer has a substantial heritable component, which is often under-appreciated in the urologic community. Inherited prostate cancer which may account for up to 10% of cases has been associated with genetic mutations which are also linked with other hereditary cancer syndromes. Therefore, family history indicating inherited prostate cancer predisposition may extend beyond prostate cancer to include other cancers such as breast, ovarian and others. Genetic counseling and genetic testing guidelines for prostate cancer are slowly emerging, which emphasizes the need for urologists and other providers involved in the care of prostate cancer patients to More >