Adenomatous Polyposis Syndromes: Polymerase Proofreading-Associated Polyposis

Palles, Claire; Latchford, Andrew; Valle, Laura

doi:10.1007/978-3-319-74259-5_8

Cited by 5 publications

(3 citation statements)

References 54 publications

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“…The phenotypic spectrum of PPAP mostly includes colorectal adenomas and CRC, diagnosed in adulthood (mean age 35–50), followed by endometrial, ovarian and breast cancer. Other tumors associated with this syndrome are adenomas and malignant tumors of the upper gastrointestinal tract, brain tumors, cancer of the small intestine and pancreatic cancer [ 45 ]. Tumors are diagnosed in the adulthood, except for the rare cases that present a CMMRD-like phenotype, characterized by severe phenotypes, including cancer, in childhood or adolescence [ 46 , 47 ].…”

Section: Inherited Syndromes That Predispose To Eocrcmentioning

confidence: 99%

“…Heterozygous exonuclease domain mutations, causing 50% of proofreading activity, are enough to increase the mutation frequency, thus not requiring a second hit in the target tissue [ 44 ]. Most proofreading-defective tumors are MSS, nevertheless, MSI or somatic DNA MMR gene mutations have been detected in some instances [ 45 ], most probably produced by the deficient proofreading activity due to a secondary mutation in an MMR gene. Proofreading deficiency has been associated with good prognosis and excellent response to immune checkpoint inhibition [ 48 ].…”

Section: Inherited Syndromes That Predispose To Eocrcmentioning

confidence: 99%

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The Inherited and Familial Component of Early-Onset Colorectal Cancer

Daca‐Alvarez

Quintana

Terradas

et al. 2021

Cells

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Early-onset colorectal cancer (EOCRC), defined as that diagnosed before the age of 50, accounts for 10–12% of all new colorectal cancer (CRC) diagnoses. Epidemiological data indicate that EOCRC incidence is increasing, despite the observed heterogeneity among countries. Although the cause for such increase remains obscure, ≈13% (range: 9–26%) of EOCRC patients carry pathogenic germline variants in known cancer predisposition genes, including 2.5% of patients with germline pathogenic variants in hereditary cancer genes traditionally not associated with CRC predisposition. Approximately 28% of EOCRC patients have family history of the disease. This article recapitulates current evidence on the inherited syndromes that predispose to EOCRC and its familial component. The evidence gathered support that all patients diagnosed with an EOCRC should be referred to a specialized genetic counseling service and offered somatic and germline pancancer multigene panel testing. The identification of a germline pathogenic variant in a known hereditary cancer gene has relevant implications for the clinical management of the patient and his/her relatives, and it may guide surgical and therapeutic decisions. The relative high prevalence of hereditary cancer syndromes and familial component among EOCRC patients supports further research that helps understand the genetic background, either monogenic or polygenic, behind this increasingly common disease.

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Section: Inherited Syndromes That Predispose To Eocrcmentioning

confidence: 99%

Section: Inherited Syndromes That Predispose To Eocrcmentioning

confidence: 99%

The Inherited and Familial Component of Early-Onset Colorectal Cancer

Daca‐Alvarez

Quintana

Terradas

et al. 2021

Cells

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“…About 5% of EC cases are caused by genetic mutations. Well-studied syndromes that are correlated with EC are: Lynch syndrome, with autosomal dominant inheritance pattern and germ line mutations to MMR genes (MLH1, MutS Homolog 2 (MSH2), MutS Homolog 6 (MSH6) and postmeiotic segregation increased 2 ( S. cerevisiae ) (PMS2) [ 41 ]; Cowden syndrome, characterized by PTEN homolog mutations and development of multiple hamartomas, breast, colorectal, thyroid, kidney, and skin cancers; and polymerase proofreading associated polyposis, an autosomal dominant cancer predisposition syndrome attributed to germline mutations in the exonuclease domain of DNA Polymerase Delta 1, Catalytic Subunit or POLE genes [ 42 ].…”

Section: Classification Of Endometrial Cancermentioning

confidence: 99%

Current Approaches to the Management of Patients with Endometrial Cancer

Kalampokas

Giannis

Kalampokas

et al. 2022

Cancers

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The incidence of endometrial cancer (EC) is rising and healthcare professionals need to be informed about the latest data on the constant developments in the field of its management. With particular interest in the classification and management of EC, we surveyed current literature, national and international data, and guidelines, as well as the latest studies to present the most recent data regarding the management of EC. It became evident that despite the consensus on low-risk EC, there are still controversies surrounding the management of high-risk EC, especially regarding the role of sentinel lymph node biopsy (SLNB). Our aim is to present the old and new perspectives in the management of EC, the different available surgical routes, the possible desire for fertility preservation, the role of adjuvant therapies and the focus on the advantages and the limitations of the implementation of SLNB in therapeutic strategies. It became evident throughout our search and based on literature data that minimally invasive surgery (MIS) leads to satisfying outcomes, thus becoming gradually the preferred route of surgery, while SLNB could provide essential information and guidance about the overall management needed in cases of both low-risk and high-risk EC.

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