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| http://dx.doi.org/10.1186/s13148-021-01058-w | DOI Listing |
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Advances in the Diagnosis of Atypical Polypoid Adenomyoma Combining Immunohistochemical and Molecular-Based Approaches: Case Report and Review of the Literature.
Curr Issues Mol Biol
December 2024
Department of Pathology, Analiza, 28001 Madrid, Spain.
Atypical polypoid adenomyoma (APA) is a benign uterine lesion with a premalignant potential and occurs in women of reproductive age. The histological pattern is characterized by irregular epithelial proliferation and muscular stroma. Based on a case report, we performed a systematic review of the literature to assess the main immunohistochemical and molecular markers that contribute to its differential diagnosis against endometrial adenocarcinoma (EC).
View Article and Find Full Text PDFInfluence of Genetic Polymorphisms on the Age at Cancer Diagnosis in a Homogenous Lynch Syndrome Cohort of Individuals Carrying the :c.1528C>T South African Founder Variant.
Biomedicines
September 2024
UCT/MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, and Affiliated Hospitals, Cape Town 7704, South Africa.
Article Synopsis
- - The study explores variations in the age at cancer diagnosis among Lynch syndrome patients, focusing on how genetic polymorphisms influence this variability, particularly in South Africans with specific germline pathogenic variants.
- - An analysis was conducted on 359 Lynch syndrome variant heterozygotes using advanced genetic testing methods to identify associations between genetic polymorphisms and the age at which cancer was diagnosed.
- - Results showed that certain genotypes increased the likelihood of younger cancer diagnosis, while others provided protective effects, suggesting that a mix of risk and protective genes plays a significant role in cancer onset age among Lynch syndrome patients.
Anticipation in families with MLH1-associated Lynch syndrome.
Cancer
January 2025
Section of Gastroenterology, Hepatology and Nutrition, Department of Medicine, The University of Chicago, Chicago, Illinois, USA.
Background: Lynch syndrome (LS) is an autosomal-dominant, hereditary cancer predisposition syndrome caused by pathogenic variants (PVs) in one of the mismatch-repair genes MLH1, MSH2/EPCAM, MSH6, or PMS2. Individuals who have MLH1 PVs have high lifetime risks of colorectal cancer (CRC) and endometrial cancer (EC). There is controversy regarding whether a younger age at diagnosis (or anticipation) occurs in MLH1-associated LS.
View Article and Find Full Text PDFHistologic and Molecular Type Changes in Endometrial Cancer Recurrences in Comparison With Their Corresponding Primary Tumors.
Am J Surg Pathol
September 2024
Department of Pathology.
In this study, molecular alterations in endometrial carcinoma (EC) recurrences were analyzed. We aimed to identify genes implicated in tumor progression and to evaluate whether histologic and molecular type shifting occurs in recurrences. Thus, we analyzed 50 samples corresponding to 24 primary ECs (15 low-grade endometrioid endometrial carcinomas [LG-EECs] and 9 high-grade endometrial carcinomas) and their corresponding 26 recurrences.
View Article and Find Full Text PDFFance deficiency impaired DNA damage repair of prospermatogonia and altered the repair dynamics of spermatocytes.
Reprod Biol Endocrinol
August 2024
Department of Obstetrics and Gynecology, Second Xiangya Hospital, Central South University, Changsha, China.
Background: Non-obstructive azoospermia (NOA) is the most severe form of male infertility and affects approximately 1% of men worldwide. Fanconi anemia (FA) genes were known for their essential role in DNA repair and growing evidence showed the crucial role of FA pathway in NOA. However, the underlying mechanisms for Fance deficiency lead to a serious deficit and delayed maturation of male germ cells remain unclear.
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