Adult-onset cancer predisposition syndromes in children and adolescents - to test or not to test?
Clin Cancer Res. 2024 Feb 27. doi: 10.1158/1078-0432.CCR-23-3683. Online ahead of print.ABSTRACTWith the increasing use of comprehensive germline genetic testing of children and adolescents with cancer, it has become evident that pathogenic variants (PVs) in adult-onset cancer predisposition genes (aoCPGs) underlying adult-onset cancer predisposition syndromes (aoCPS) such as Lynch syndrome or hereditary breast and ovarian cancer are enriched and reported in one to two percent of children and adolescents with cancer. However, the causal relationship between PVs in aoCPGs and childhood cancer is still under investigation. T...
Source: Clinical Breast Cancer - February 27, 2024 Category: Cancer & Oncology Authors: Christian P Kratz Philip J Lupo Kristin Zelley Jaclyn Schienda Kim E Nichols Douglas R Stewart David Malkin Garrett M Brodeur Kara Maxwell Sharon E Plon Michael F Walsh Source Type: research
Adult-onset cancer predisposition syndromes in children and adolescents - to test or not to test?
Clin Cancer Res. 2024 Feb 27. doi: 10.1158/1078-0432.CCR-23-3683. Online ahead of print.ABSTRACTWith the increasing use of comprehensive germline genetic testing of children and adolescents with cancer, it has become evident that pathogenic variants (PVs) in adult-onset cancer predisposition genes (aoCPGs) underlying adult-onset cancer predisposition syndromes (aoCPS) such as Lynch syndrome or hereditary breast and ovarian cancer are enriched and reported in one to two percent of children and adolescents with cancer. However, the causal relationship between PVs in aoCPGs and childhood cancer is still under investigation. T...
Source: Clinical Genitourinary Cancer - February 27, 2024 Category: Cancer & Oncology Authors: Christian P Kratz Philip J Lupo Kristin Zelley Jaclyn Schienda Kim E Nichols Douglas R Stewart David Malkin Garrett M Brodeur Kara Maxwell Sharon E Plon Michael F Walsh Source Type: research
Adult-onset cancer predisposition syndromes in children and adolescents - to test or not to test?
Clin Cancer Res. 2024 Feb 27. doi: 10.1158/1078-0432.CCR-23-3683. Online ahead of print.ABSTRACTWith the increasing use of comprehensive germline genetic testing of children and adolescents with cancer, it has become evident that pathogenic variants (PVs) in adult-onset cancer predisposition genes (aoCPGs) underlying adult-onset cancer predisposition syndromes (aoCPS) such as Lynch syndrome or hereditary breast and ovarian cancer are enriched and reported in one to two percent of children and adolescents with cancer. However, the causal relationship between PVs in aoCPGs and childhood cancer is still under investigation. T...
Source: Clinical Cancer Research - February 27, 2024 Category: Cancer & Oncology Authors: Christian P Kratz Philip J Lupo Kristin Zelley Jaclyn Schienda Kim E Nichols Douglas R Stewart David Malkin Garrett M Brodeur Kara Maxwell Sharon E Plon Michael F Walsh Source Type: research
Adult-onset cancer predisposition syndromes in children and adolescents - to test or not to test?
Clin Cancer Res. 2024 Feb 27. doi: 10.1158/1078-0432.CCR-23-3683. Online ahead of print.ABSTRACTWith the increasing use of comprehensive germline genetic testing of children and adolescents with cancer, it has become evident that pathogenic variants (PVs) in adult-onset cancer predisposition genes (aoCPGs) underlying adult-onset cancer predisposition syndromes (aoCPS) such as Lynch syndrome or hereditary breast and ovarian cancer are enriched and reported in one to two percent of children and adolescents with cancer. However, the causal relationship between PVs in aoCPGs and childhood cancer is still under investigation. T...
Source: Clinical Breast Cancer - February 27, 2024 Category: Cancer & Oncology Authors: Christian P Kratz Philip J Lupo Kristin Zelley Jaclyn Schienda Kim E Nichols Douglas R Stewart David Malkin Garrett M Brodeur Kara Maxwell Sharon E Plon Michael F Walsh Source Type: research
Adult-onset cancer predisposition syndromes in children and adolescents - to test or not to test?
Clin Cancer Res. 2024 Feb 27. doi: 10.1158/1078-0432.CCR-23-3683. Online ahead of print.ABSTRACTWith the increasing use of comprehensive germline genetic testing of children and adolescents with cancer, it has become evident that pathogenic variants (PVs) in adult-onset cancer predisposition genes (aoCPGs) underlying adult-onset cancer predisposition syndromes (aoCPS) such as Lynch syndrome or hereditary breast and ovarian cancer are enriched and reported in one to two percent of children and adolescents with cancer. However, the causal relationship between PVs in aoCPGs and childhood cancer is still under investigation. T...
Source: Clinical Genitourinary Cancer - February 27, 2024 Category: Cancer & Oncology Authors: Christian P Kratz Philip J Lupo Kristin Zelley Jaclyn Schienda Kim E Nichols Douglas R Stewart David Malkin Garrett M Brodeur Kara Maxwell Sharon E Plon Michael F Walsh Source Type: research
Clinicopathological features and prognosis of primary small bowel adenocarcinoma: a large multicenter analysis of the JSCCR database in Japan
ConclusionsOf the patients with PSBA, 76.8% had symptoms at the initial diagnosis, which were often detected at an advanced stage. Detection during the early stages of PSBA is important to ensure a good prognosis. (Source: Journal of Gastroenterology)
Source: Journal of Gastroenterology - February 27, 2024 Category: Gastroenterology Source Type: research
Conversion therapy with pembrolizumab for a peritoneal metastasis of rectal cancer causing hydronephrosis in a patient with Lynch syndrome
Clin J Gastroenterol. 2024 Feb 23. doi: 10.1007/s12328-024-01931-0. Online ahead of print.ABSTRACTA 44-year-old woman with Lynch syndrome was referred to our hospital for treatment of recurrence of microsatellite instability-high rectal cancer. [18F]Fluorodeoxyglucose (18FDG)-positron emission tomography revealed a peritoneal metastasis with invasion to the small intestine and left ureter. The peritoneal metastasis was diagnosed initially as unresectable because of extensive invasion to the left ureter requiring nephrectomy. Hence, first-line treatment with pembrolizumab was started. After the first course of pembrolizumab...
Source: Cancer Control - February 23, 2024 Category: Cancer & Oncology Authors: Akio Matsumoto Yoshifumi Shimada Mae Nakano Hikaru Ozeki Daisuke Yamai Masaki Murata Fumio Ishizaki Hiromi Nyuzuki Takeshi Ikeuchi Toshifumi Wakai Source Type: research
Cancers, Vol. 16, Pages 849: Lynch Syndrome: From Multidisciplinary Management to Precision Prevention
Conclusions: Although robust diagnostic algorithms, including prompt testing of tumor tissue for MMR defects and referral for genetic counselling, currently exist for suspected LS in CRC patients, the indications for LS screening in cancer-free individuals still need to be refined and standardized. Investigation into additional genetic and non-genetic factors that may explain residual rates of interval cancers, even in properly screened populations, would allow for more tailored preventive strategies. (Source: Cancers)
Source: Cancers - February 20, 2024 Category: Cancer & Oncology Authors: Arianna Dal Buono Alberto Puccini Gianluca Franchellucci Marco Airoldi Michela Bartolini Paolo Bianchi Armando Santoro Alessandro Repici Cesare Hassan Tags: Review Source Type: research
Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway
European Journal of Human Genetics, Published online: 15 February 2024; doi:10.1038/s41431-024-01550-wIdentification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 15, 2024 Category: Genetics & Stem Cells Authors: Fiona E. McRonald Joanna Pethick Francesco Santaniello Brian Shand Adele Tyson Oliver Tulloch Shilpi Goel Margreet L üchtenborg Gillian M. Borthwick Clare Turnbull Adam C. Shaw Kevin J. Monahan Ian M. Frayling Steven Hardy John Burn Source Type: research
Comparison of standard mismatch repair deficiency and microsatellite instability tests in a large cancer series
The tumor-agnostic indication of immune checkpoint inhibitors to treat cancers with mismatch repair deficiency (dMMR)/microsatellite instability (MSI) increased the demand for such tests beyond Lynch syndrome.... (Source: Journal of Translational Medicine)
Source: Journal of Translational Medicine - February 13, 2024 Category: Research Authors: Maja L. N ádorvári, István Kenessey, András Kiss, Tamás Barbai, Janina Kulka, Erzsébet Rásó and József Tímár Tags: Research Source Type: research
Detection of (pre)cancerous colorectal lesions in Lynch syndrome patients by microsatellite instability liquid biopsy
Cancer Gene Therapy, Published online: 09 February 2024; doi:10.1038/s41417-023-00721-zDetection of (pre)cancerous colorectal lesions in Lynch syndrome patients by microsatellite instability liquid biopsy (Source: Cancer Gene Therapy)
Source: Cancer Gene Therapy - February 9, 2024 Category: Cancer & Oncology Authors: Mattia Boeri Stefano Signoroni Chiara Maura Ciniselli Manuela Gariboldi Susanna Zanutto Emanuele Rausa Miriam Segale Anna Zangh ì Maria Teresa Ricci Paolo Verderio Gabriella Sozzi Marco Vitellaro Source Type: research
Circulating metabolome landscape in Lynch syndrome
This study aims to characterize the circulating metabolome of Lynch syndrome carriers, shedding light on the energy metabolism status in this cancer predisposition syndrome.This study consists of a three-group cross-sectional analysis to compare the circulating metabolome of cancer-free Lynch syndrome carriers, sporadic colorectal cancer (CRC) patients, and healthy non-carrier controls. We detected elevated levels of circulating cholesterol, lipids, and lipoproteins in LS carriers. Furthermore, we unveiled that Lynch syndrome carriers and CRC patients displayed similar alterations compared to healthy non-carriers in circul...
Source: Cancer and Metabolism - February 5, 2024 Category: Cancer & Oncology Source Type: research
Loss of symbiotic and increase of virulent bacteria through microbial networks in Lynch syndrome colon carcinogenesis
ConclusionEnhanced fecal virulent/symbiotic bacteria ratios influence bacterial network structures. As an early event in colon carcinogenesis, these ratios can be used to identify asymptomatic LS individual with a higher risk of CRC. (Source: Frontiers in Oncology)
Source: Frontiers in Oncology - February 5, 2024 Category: Cancer & Oncology Source Type: research
Cancers, Vol. 16, Pages 671: Real-World Data on Institutional Implementation of Screening for Mismatch Repair Deficiency and Lynch Syndrome in Endometrial Cancer Patients
Franziska Siegenthaler
Lynch syndrome is an inherited tumor syndrome caused by a pathogenic germline variant in DNA mismatch repair genes. As the leading cause of hereditary endometrial cancer, international guidelines recommend universal screening in women with endometrial cancer. However, testing for Lynch syndrome is not yet well established in clinical practice. The aim of this study was to evaluate adherence to our Lynch syndrome screening algorithm. A retrospective, single-center cohort study was conducted of all endometrial cancer patients undergoing surgical treatment at the Bern University Hospital, Switzerlan...
Source: Cancers - February 4, 2024 Category: Cancer & Oncology Authors: Carmen Joder Andrea Gm ür Wiebke Solass Lucine Christe Manuela Rabaglio Muriel Fluri Tilman T. Rau Flurina A. M. Saner Laura Knabben Sara Imboden Michael D. Mueller Franziska Siegenthaler Tags: Article Source Type: research
