Familial Cancer OnlineFirst articles

Open Access 15.04.2024 | Review

Aspects and outcomes of surveillance for individuals at high-risk of pancreatic cancer

Pancreatic ductal adenocarcinoma (PDAC) is a leading cause of cancer-related deaths and is associated with a poor prognosis. The majority of these cancers are detected at a late stage, contributing to the bad prognosis. This underscores the need …

verfasst von:: Aleksander M. Bogdanski, Jeanin E. van Hooft, Bas Boekestijn, Bert A. Bonsing, Martin N. J. M. Wasser, Derk C. F. Klatte, Monique E. van Leerdam

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Open Access 15.04.2024 | Original Article

Clinical features of prostate cancer by polygenic risk score

Genome-wide association studies have identified more than 290 single nucleotide variants (SNVs) associated with prostate cancer. These SNVs can be combined to generate a Polygenic Risk Score (PRS), which estimates an individual’s risk to develop …

verfasst von:: Christina Spears, Menglin Xu, Abigail Shoben, Shawn Dason, Amanda Ewart Toland, Lindsey Byrne

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Open Access 12.04.2024 | Original Article

Evaluation of EGFR and COX pathway inhibition in human colon organoids of serrated polyposis and other hereditary cancer syndromes

Serrated polyposis syndrome (SPS) presents with multiple sessile serrated lesions (SSL) in the large intestine and confers increased colorectal cancer (CRC) risk. However, the etiology of SPS is not known. SSL-derived organoids have not been …

verfasst von:: Priyanka Kanth, Mark W. Hazel, John C. Schell, Jared Rutter, Ruoxin Yao, Alyssa P. Mills, Don A. Delker

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12.04.2024 | Original Article

Pilot study of a decision aid on BRCA1/2 genetic testing among Orthodox Jewish women

Women carrying a pathogenic or likely pathogenic (P/LP) variant in the BRCA1 or BRCA2 ( BRCA1/2 ) genes have an increased lifetime risk of breast and ovarian cancer. Identifying a P/LP variant in BRCA1/2 can allow individuals to utilize cancer risk …

verfasst von:: Meghna S. Trivedi, Haley Manley, Haeseung Yi, Thomas Silverman, Wendy K. Chung, Paul S. Appelbaum, Rebecca Starck, Isaac Schecter, Rita Kukafka, Katherine D. Crew

12.04.2024 | Review

Understanding familial risk of pancreatic ductal adenocarcinoma

Pancreatic ductal adenocarcinoma (PDAC) is a deadly disease that is the result of an accumulation of sequential genetic alterations. These genetic alterations can either be inherited, such as pathogenic germline variants that are associated with …

verfasst von:: Raymond M. Paranal, Laura D. Wood, Alison P. Klein, Nicholas J. Roberts

04.04.2024 | Review

Genetic and other risk factors for pancreatic ductal adenocarcinoma (PDAC)

Pancreatic ductal adenocarcinoma (PDAC) is often diagnosed at an advanced stage, resulting in poor prognosis and low 5-year survival rates. While early evidence suggests increased long-term survival in those with screen-detected resectable …

verfasst von:: Michelle F. Jacobs, Elena M. Stoffel

Open Access 04.04.2024 | Review

The role of endoscopic ultrasound in the detection of pancreatic lesions in high-risk individuals

Individuals at high risk of developing pancreatic ductal adenocarcinoma are eligible for surveillance within research programs. These programs employ periodic imaging in the form of magnetic resonance imaging/magnetic resonance …

verfasst von:: Kasper A. Overbeek, Djuna L. Cahen, Marco J. Bruno

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01.04.2024 | Editorial

Editorial for familial cancer: cascade genetic testing

verfasst von:: Maria Katapodi, Joanne Ngeow, Yuen Yie, Melissa Frey

28.03.2024 | Original Article

Clinician perspectives on policy approaches to genetic risk disclosure in families

Genomic sequencing has emerged as a powerful tool with significant implications for patients and their relatives, however, empirical evidence suggests that effective dissemination of risk information within families remains a challenge. Policy …

verfasst von:: Amicia Phillips, Danya F. Vears, Ine Van Hoyweghen, Pascal Borry

28.03.2024 | Review

Challenges and opportunities for Lynch syndrome cascade testing in the United States

Lynch syndrome is an underdiagnosed genetic condition that increases lifetime colorectal, endometrial, and other cancer risk. Cascade testing in relatives is recommended to increase diagnoses and enable access to cancer prevention services, yet …

verfasst von:: Lauren E Passero, Megan C Roberts

26.03.2024 | Review

Cascade genetic testing for hereditary cancer syndromes: a review of barriers and breakthroughs

Germline genetic sequencing is now at the forefront of cancer treatment and preventative medicine. Cascade genetic testing, or the testing of at-risk relatives, is extremely promising as it offers genetic testing and potentially life-saving …

verfasst von:: Rachel Levine, Ryan M. Kahn, Luiza Perez, Jesse Brewer, Samantha Ratner, Xuan Li, Effi Yeoshoua, Melissa K. Frey

16.03.2024 | Review

Progress report: Peutz–Jeghers syndrome

Peutz–Jeghers syndrome is a rare, autosomal dominant polyposis syndrome. Presenting with a remarkable phenotype including development of characteristic gastrointestinal polyps, mucocutaneous pigmentations, and an increased risk of cancer, the …

verfasst von:: Anne Marie Jelsig, John Gásdal Karstensen, Thomas V. Overeem Hansen

16.03.2024 | Review

The Italian registry of families at risk for pancreatic cancer (IRFARPC): implementation and evolution of a national program for pancreatic cancer surveillance in high-risk individuals

Screening programs for early detection and treatment of pancreatic cancer (PC) and its precursor lesions are increasingly implemented worldwide to reduce disease-specific lethality. Given the relatively low prevalence of the disease, the ideal …

verfasst von:: Livia Archibugi, Fabio Casciani, Silvia Carrara, Erica Secchettin, Massimo Falconi, Gabriele Capurso, Salvatore Paiella

13.03.2024 | In Memoriam

In Memoriam: Steffen Bülow (1943–2023)

verfasst von:: Hans F. A. Vasen

Open Access 13.03.2024 | Original Article

Cascade screening in HBOC and Lynch syndrome: guidelines and procedures in a UK centre

In the 33 years since the first diagnostic cancer predisposition gene (CPG) tests in the Manchester Centre for Genomic Medicine, there has been substantial changes in the identification of index cases and cascade testing for at-risk family …

verfasst von:: D. Gareth Evans, Kate Green, George J. Burghel, Claire Forde, Fiona Lalloo, Helene Schlecht, Emma R. Woodward

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Open Access 05.03.2024 | Review

Can our experience with surveillance for inherited pancreatic cancer help to identify early pancreatic cancer in the general population?

Screening of the general population for cancer is a matter of primary prevention reducing the burden of disease. Whilst this is successful for several cancers including breast, colon and prostate, the situation to screen and hence prevent …

verfasst von:: J.-Matthias Löhr, Daniel Öhlund, Emma Söreskog, Emil Andersson, Miroslav Vujasinovic, Niklas Zethraeus, Malin Sund

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04.03.2024 | Review

Familial pancreatic cancer: a long fruitful journey

In the early years of my GI fellowship, a healthy 40-year-old man came to my clinic and announced that he was going to die of pancreatic cancer. His brothers, father and uncles had all died of the disease; he felt his fate was inescapable. I asked …

verfasst von:: Teresa A Brentnall

06.02.2024 | Review Article

Precursor lesions in familial and hereditary pancreatic cancer

Infiltrating ductal adenocarcinoma of the pancreas, referred to here as “pancreatic cancer,” is one of the deadliest of all of the solid malignancies. The five-year survival rate in the United States for individuals diagnosed today with pancreatic …

verfasst von:: Michael J. Pflüger, Lodewijk A.A. Brosens, Ralph H. Hruban

04.02.2024 | Correspondence

Aberrant transcription caused by an intronic non-canonical CDH1 variant

verfasst von:: Ahmed Bouras, Chloé Grand-Masson, Cedrick Lefol, Eric Ruano, Fabienne Prieur, Qing Wang

Open Access 27.01.2024 | Original article

High amount of fertility reducing tumors and procedures, but no evidence for premature ovarian failure in female Lynch syndrome patients

Lynch syndrome (LS; HNPCC) patients carry heterozygous pathogenic germline variants in mismatch repair (MMR) genes, which have also been shown to play an important role in meiosis. Therefore, it was hypothesized, that LS might be associated with a …

verfasst von:: Sabine Biermann, Michael Knapp, Peter Wieacker, Stefan Aretz, Verena Steinke-Lange

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