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Aspects and outcomes of surveillance for individuals at high-risk of pancreatic cancer Fam. Cancer (IF 2.2) Pub Date : 2024-04-15 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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Clinical features of prostate cancer by polygenic risk score Fam. Cancer (IF 2.2) Pub Date : 2024-04-15 Christina Spears, Menglin Xu, Abigail Shoben, Shawn Dason, Amanda Ewart Toland, Lindsey Byrne
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 prostate cancer. Identifying individuals at higher risk for prostate cancer using PRS could allow for personalized screening recommendations, improve current
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Pilot study of a decision aid on BRCA1/2 genetic testing among Orthodox Jewish women Fam. Cancer (IF 2.2) Pub Date : 2024-04-12 Meghna S. Trivedi, Haley Manley, Haeseung Yi, Thomas Silverman, Wendy K. Chung, Paul S. Appelbaum, Rebecca Starck, Isaac Schecter, Rita Kukafka, Katherine D. Crew
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Evaluation of EGFR and COX pathway inhibition in human colon organoids of serrated polyposis and other hereditary cancer syndromes Fam. Cancer (IF 2.2) Pub Date : 2024-04-12 Priyanka Kanth, Mark W. Hazel, John C. Schell, Jared Rutter, Ruoxin Yao, Alyssa P. Mills, Don A. Delker
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Understanding familial risk of pancreatic ductal adenocarcinoma Fam. Cancer (IF 2.2) Pub Date : 2024-04-12 Raymond M. Paranal, Laura D. Wood, Alison P. Klein, Nicholas J. Roberts
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 an increased risk of cancer, or acquired, such as somatic mutations that occur during the lifetime of an individual. Understanding the genetic basis of inherited
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Genetic and other risk factors for pancreatic ductal adenocarcinoma (PDAC) Fam. Cancer (IF 2.2) Pub Date : 2024-04-04 Michelle F. Jacobs, Elena M. Stoffel
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 cancers, surveillance imaging is currently only recommended for individuals with a lifetime risk of PDAC ≥ 5%. Identification of risk factors for PDAC provides opportunities
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The role of endoscopic ultrasound in the detection of pancreatic lesions in high-risk individuals Fam. Cancer (IF 2.2) Pub Date : 2024-04-04 Kasper A. Overbeek, Djuna L. Cahen, Marco J. Bruno
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 cholangiopancreatography or endoscopic ultrasound for the detection of early cancer or high-grade precursor lesions. This narrative review discusses the role of endoscopic ultrasound
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Challenges and opportunities for Lynch syndrome cascade testing in the United States Fam. Cancer (IF 2.2) Pub Date : 2024-03-28 Lauren E Passero, Megan C Roberts
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 uptake is limited due to documented multi-level barriers. Individual barriers such as feelings of fear, guilt, and anxiety and limited knowledge about Lynch
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Clinician perspectives on policy approaches to genetic risk disclosure in families Fam. Cancer (IF 2.2) Pub Date : 2024-03-28 Amicia Phillips, Danya F. Vears, Ine Van Hoyweghen, Pascal Borry
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 responses to address this issue vary across countries, with Belgium notably lacking specific regulations governing nondisclosure of genetic risk. In this study
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Cascade genetic testing for hereditary cancer syndromes: a review of barriers and breakthroughs Fam. Cancer (IF 2.2) Pub Date : 2024-03-26
Abstract 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 risk-reduction strategies to a population exponentially enriched for the risk of carrying a cancer-associated pathogenic variant. However, many relatives
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Progress report: Peutz–Jeghers syndrome Fam. Cancer (IF 2.2) Pub Date : 2024-03-16 Anne Marie Jelsig, John Gásdal Karstensen, Thomas V. Overeem Hansen
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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 Fam. Cancer (IF 2.2) Pub Date : 2024-03-16 Livia Archibugi, Fabio Casciani, Silvia Carrara, Erica Secchettin, Massimo Falconi, Gabriele Capurso, Salvatore Paiella
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Cascade screening in HBOC and Lynch syndrome: guidelines and procedures in a UK centre Fam. Cancer (IF 2.2) Pub Date : 2024-03-13 D. Gareth Evans, Kate Green, George J. Burghel, Claire Forde, Fiona Lalloo, Helene Schlecht, Emma R. Woodward
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 members. National guidelines in England and Wales are usually determined from the National Institute of healthcare Evidence and these have impacted on the thresholds
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Can our experience with surveillance for inherited pancreatic cancer help to identify early pancreatic cancer in the general population? Fam. Cancer (IF 2.2) Pub Date : 2024-03-05 J.-Matthias Löhr, Daniel Öhlund, Emma Söreskog, Emil Andersson, Miroslav Vujasinovic, Niklas Zethraeus, Malin Sund
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Familial pancreatic cancer: a long fruitful journey Fam. Cancer (IF 2.2) Pub Date : 2024-03-04 Teresa A Brentnall
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 whether his family members had seen doctors or had any tests. His answer was yes to both. Even so, doctors could not diagnose the pancreatic cancer at early
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Precursor lesions in familial and hereditary pancreatic cancer Fam. Cancer (IF 2.2) Pub Date : 2024-02-06 Michael J. Pflüger, Lodewijk A.A. Brosens, Ralph H. Hruban
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Low prevalence of gastric intestinal metaplasia and Helicobacter pylori on surveillance upper endoscopy in Lynch syndrome Fam. Cancer (IF 2.2) Pub Date : 2024-01-31 Marya Pulaski, Michaela Dungan, Marina Weber, Gillain Constantino, Bryson W. Katona
Lynch syndrome (LS) increases the risk of numerous different cancers including gastric cancer. While some current guidelines recommend empiric gastric biopsies be performed during upper gastrointestinal cancer surveillance in Lynch syndrome (LS), the yield of these biopsies and the prevalence of gastric intestinal metaplasia (GIM) and Helicobacter pylori (HP) in LS remains unknown. Herein we analyze
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High amount of fertility reducing tumors and procedures, but no evidence for premature ovarian failure in female Lynch syndrome patients Fam. Cancer (IF 2.2) Pub Date : 2024-01-27 Sabine Biermann, Michael Knapp, Peter Wieacker, Stefan Aretz, Verena Steinke-Lange
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Breast density in NF1 women: a retrospective study Fam. Cancer (IF 2.2) Pub Date : 2024-01-25
Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant condition caused by neurofibromin haploinsufficiency due to pathogenic variants in the NF1 gene. Tumor predisposition has long been associated with NF1, and an increased breast cancer (BC) incidence and reduced survival have been reported in recent years for women with NF1. As breast density is another known independent risk factor for
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Li Fraumeni Syndrome predisposes to gastro-esophageal junction tumours Fam. Cancer (IF 2.2) Pub Date : 2024-01-11 Douglas Tjandra, Alex Boussioutas
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Cascade genetic counseling and testing in hereditary syndromes: inherited cardiovascular disease as a model: a narrative review Fam. Cancer (IF 2.2) Pub Date : 2024-01-06 Laura A. Grutters, Imke Christiaans
Inherited cardiovascular diseases cover the inherited cardiovascular disease familial hypercholesterolemia and inherited cardiac diseases, like inherited cardiomyopathies and inherited arrhythmia syndromes. Cascade genetic counseling and testing in inherited cardiovascular diseases have had three decades of academic attention. Inherited cardiovascular diseases affect around 1–2% of the population worldwide
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Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family Fam. Cancer (IF 2.2) Pub Date : 2023-12-08 James M. Chan, Mark Clendenning, Sharelle Joseland, Peter Georgeson, Khalid Mahmood, Jihoon E. Joo, Romy Walker, Julia Como, Susan Preston, Shuyi Marci Chai, Yen Lin Chu, Aaron L. Meyers, Bernard J. Pope, David Duggan, J. Lynn Fink, Finlay A. Macrae, Christophe Rosty, Ingrid M. Winship, Mark A. Jenkins, Daniel D. Buchanan
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Cascade testing in Italian Hereditary Breast Ovarian Cancer families: a missed opportunity for cancer prevention? Fam. Cancer (IF 2.2) Pub Date : 2023-11-16 Lucia Trevisan, Lea Godino, Linda Battistuzzi, Giovanni Innella, Elena Luppi, Giulia Buzzatti, Viviana Gismondi, Eva Blondeaux, Luigina Ada Bonelli, Daniela Turchetti, Liliana Varesco
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Functional and phenotypic consequences of an unusual inversion in MSH2 Fam. Cancer (IF 2.2) Pub Date : 2023-11-14 Dylan Pelletier, Abhijit Rath, Nelly Sabbaghian, Manuela Pelmus, Catherine Hudon, Karine Jacob, Leora Witowski, Avi Saskin, Christopher D. Heinen, William D. Foulkes
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Balancing the burden and benefits of colonoscopy in Lynch Syndrome. Fam. Cancer (IF 2.2) Pub Date : 2023-09-15 Finlay Macrae
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PREMM5 distinguishes sporadic from Lynch syndrome-associated MMR-deficient/MSI-high colorectal cancer Fam. Cancer (IF 2.2) Pub Date : 2023-08-12 Renata L. Sandoval, Miki Horiguchi, Chinedu Ukaegbu, C. Sloane Furniss, Hajime Uno, Sapna Syngal, Matthew B. Yurgelun
Current algorithms for diagnosing Lynch syndrome (LS) include multistep molecular tumor tests to distinguish LS-associated from sporadic colorectal cancer (CRC), which add cost and complexity to the evaluation. We hypothesized that PREMM5, a clinical LS prediction tool, could be an alternative approach to screen for LS, thereby lessening the need for specialized molecular diagnostics. We reviewed a
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Combining clinical and molecular characterization of CDH1: a multidisciplinary approach to reclassification of a splicing variant Fam. Cancer (IF 2.2) Pub Date : 2023-08-04 Corrine Fillman, Arravinth Anantharajah, Briana Marmelstein, Monica Dillon, Carolyn Horton, Candace Peterson, Joseph Lopez, Rashmi Tondon, Terra Brannan, Bryson W Katona
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Prevalence and genetic spectrum associated with hereditary colorectal cancer syndromes, the need to improve cancer risk awareness, and family cascade testing in Vietnam Fam. Cancer (IF 2.2) Pub Date : 2023-07-30 Huu-Thinh Nguyen, Y-Thanh Lu, Duc-Huy Tran, Ba-Linh Tieu, Kien-Trung Le, Truong-Vinh Ngoc Pham, Thanh-Thuy Thi Do, Dinh-Kiet Truong, Hoa Giang, Hung-Sang Tang
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Germline whole genome sequencing in adults with multiple primary tumors Fam. Cancer (IF 2.2) Pub Date : 2023-07-22 Yiming Wang, Qiliang Ding, Stephenie Prokopec, Kirsten M. Farncombe, Jeffrey Bruce, Selina Casalino, Jeanna McCuaig, Marta Szybowska, Kalene van Engelen, Jordan Lerner-Ellis, Trevor J. Pugh, Raymond H. Kim
Multiple primary tumors (MPTs) are a harbinger of hereditary cancer syndromes. Affected individuals often fit genetic testing criteria for a number of hereditary cancer genes and undergo multigene panel testing. Other genomic testing options, such as whole exome (WES) and whole genome sequencing (WGS) are available, but the utility of these genomic approaches as a second-tier test for those with uninformative
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Willingness of individuals with Li-Fraumeni syndrome to participate in a cancer prevention trial: a survey study Fam. Cancer (IF 2.2) Pub Date : 2023-06-23 Farina J. Struewe, Sarah Schott, Martina de Zwaan, Christian P. Kratz
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Mainstreamed genetic testing of breast cancer patients: experience from a single surgeon’s practice in a large US Academic Center Fam. Cancer (IF 2.2) Pub Date : 2023-06-24 Teresa S. Chai, Kanhua Yin, Mackenzie Wooters, Kristen M. Shannon, Kevin S. Hughes
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Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study Fam. Cancer (IF 2.2) Pub Date : 2023-06-24 Anne Marie Jelsig, Thomas van Overeem Hansen, Lene Bjerring Gede, Niels Qvist, Lise-Lotte Christensen, Charlotte Kvist Lautrup, Ken Ljungmann, Louise Torp Christensen, Karina Rønlund, Pernille Mathiesen Tørring, Birgitte Bertelsen, Lone Sunde, John Gásdal Karstensen
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Cancer surveillance for transgender and gender diverse patients with Lynch syndrome: a practice resource of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Fam. Cancer (IF 2.2) Pub Date : 2023-06-21 Rachel Hodan, Linda Rodgers-Fouche, Anu Chittenden, Mev Dominguez-Valentin, James Ferriss, Lauren Gima, Ole-Petter R. Hamnvik, Gregory E. Idos, Kevin Kline, Diane R. Koeller, Jessica M. Long, Danielle McKenna, Charles Muller, Maxton Thoman, Anton Wintner, Bronwyn S. Bedrick
Transgender and gender diverse (TGD) populations with hereditary cancer syndromes face unique obstacles to identifying and obtaining appropriate cancer surveillance and risk-reducing procedures. There is a lack of care provider knowledge about TGD health management. Lynch syndrome (LS) is one of the most common hereditary cancer syndromes, affecting an estimated 1 in 279 individuals. There are no clinical
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A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report Fam. Cancer (IF 2.2) Pub Date : 2023-06-15 Romy Walker, Mark Clendenning, Jihoon E. Joo, Jessie Xue, Khalid Mahmood, Peter Georgeson, Julia Como, Sharelle Joseland, Susan G. Preston, James M. Chan, Mark A. Jenkins, Christophe Rosty, Finlay A. Macrae, Stephanie Di Palma, Ainsley Campbell, Ingrid M. Winship, Daniel D. Buchanan
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Clinical and imaging modality factors impacting radiological interpretation of breast screening in young women with neurofibromatosis type 1 Fam. Cancer (IF 2.2) Pub Date : 2023-06-19 Mathilda Wilding, Jane Fleming, Katrina Moore, Ashley Crook, Ranjani Reddy, Sarah Choi, Timothy E. Schlub, Michael Field, Lavvina Thiyagarajan, Jeff Thompson, Yemima Berman
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In deep bioinformatic characterization of a novel fumarate hydratase variant FH c.199T > G; (p.Tyr67Asp) in hereditary leiomyomatosis and renal cell carcinoma Fam. Cancer (IF 2.2) Pub Date : 2023-06-15 Anisse Chami, Thalía Rodrigues de Souza Zózimo, Thamiris Matias Alves, Carolina Guimarães Ramos Matosinho, Cleydson Santos, Marcela Mattos Simões, Walter Luiz Ribeiro Cabral, Bernardo Ferreira de Paula Ricardo, Agnaldo Lopes da Silva Filho, Maria Raquel Santos Carvalho, Letícia da Conceição Braga
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Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis Fam. Cancer (IF 2.2) Pub Date : 2023-05-30 Maria Apellaniz-Ruiz, Nelly Sabbaghian, Anne-Laure Chong, Leanne de Kock, Semra Cetinkaya, Elvan Bayramoğlu, Winand N. M. Dinjens, W. Glenn McCluggage, Anja Wagner, Aslihan Arasli Yilmaz, William D. Foulkes
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Colonoscopy surveillance in Lynch syndrome is burdensome and frequently delayed Fam. Cancer (IF 2.2) Pub Date : 2023-05-12 Elsa L. S. A. van Liere, Imke L. Jacobs, Evelien Dekker, Maarten A. J. M. Jacobs, Nanne K. H. de Boer, Dewkoemar Ramsoekh
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Endoscopic and chemopreventive management of familial adenomatous polyposis syndrome Fam. Cancer (IF 2.2) Pub Date : 2023-04-29 J. K. Stone, N. A. Mehta, H. Singh, W. El-Matary, C. N. Bernstein
Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome predisposing affected individuals to gastrointestinal (GI) cancers through a high burden of polyposis. Colorectal cancer rates reach 100% by the age of 45, making early colectomy a mainstay of treatment. While most patients undergo colectomy at an early age, ongoing screening and surveillance of the upper gastrointestinal tract
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Hematologic toxicities of chemotherapy in breast and ovarian cancer patients carrying BRCA1/BRCA2 germline pathogenic variants. A single center experience and review of the literature Fam. Cancer (IF 2.2) Pub Date : 2023-04-29 Ketty Hu-Heimgartner, Noémie Lang, Aurélie Ayme, Chang Ming, Jean‑Damien Combes, Victor N. Chappuis, Carla Vazquez, Alex Friedlaender, Aurélie Vuilleumier, Alexandre Bodmer, Valeria Viassolo, José L Sandoval, Pierre O. Chappuis, S. Intidhar Labidi-Galy
BRCA1 and BRCA2 play a central role in DNA repair and their germline pathogenic variants (gBRCA) confer a high risk for developing breast and ovarian cancer. Standard chemotherapy regimens for these cancers include DNA-damaging agents. We hypothesized that gBRCA carriers might be at higher risk of developing chemotherapy-related hematologic toxicity and therapy-related myeloid neoplasms (t-MN). We
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Perspectives on the implications of carrying putative pathogenic variants in the medulloblastoma predisposition genes ELP1 and GPR161 Fam. Cancer (IF 2.2) Pub Date : 2023-03-24 Miriam J Smith, Emma R Woodward, D Gareth Evans
Recent genetic sequencing studies in large series’ of predominantly childhood medulloblastoma have implicated loss-of-function, predominantly truncating, variants in the ELP1 and GPR161 genes in causation of the MBSHH subtype specifically. The latter association, along with a report of an index case with some features of Gorlin syndrome has led to speculation that GPR161 may also cause Gorlin syndrome
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Hereditary acute myeloid leukemia associated with C-terminal CEBPA germline variants Fam. Cancer (IF 2.2) Pub Date : 2023-03-06 Amye M. Harrigan, Amy M. Trottier
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Characteristics of familial pancreatic cancer families with additional colorectal carcinoma Fam. Cancer (IF 2.2) Pub Date : 2023-01-31 Bettina Lehman, Elvira Matthäi, Norman Gercke, Ulrike W. Denzer, Jens Figiel, Timo Hess, Emily P. Slater, Detlef K. Bartsch
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Heritable methylation marks associated with prostate cancer risk Fam. Cancer (IF 2.2) Pub Date : 2023-01-28 James G. Dowty, Chenglong Yu, Mahnaz Hosseinpour, Jihoon Eric Joo, Ee Ming Wong, Tu Nguyen-Dumont, Joseph Rosenbluh, Graham G. Giles, Roger L. Milne, Robert J. MacInnis, Pierre-Antoine Dugué, Melissa C. Southey
DNA methylation marks that are inherited from parents to offspring are known to play a role in cancer risk and could explain part of the familial risk for cancer. We therefore conducted a genome-wide search for heritable methylation marks associated with prostate cancer risk. Peripheral blood DNA methylation was measured for 133 of the 469 members of 25 multiple-case prostate cancer families, using
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Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition Fam. Cancer (IF 2.2) Pub Date : 2023-01-19 Timo A. Kumpula, Susanna Koivuluoma, Leila Soikkonen, Sandra Vorimo, Jukka Moilanen, Robert Winqvist, Tuomo Mantere, Outi Kuismin, Katri Pylkäs
CHEK2 is a well-established breast cancer susceptibility gene. The most frequent pathogenic CHEK2 variant is 1100delC, a loss-of-function mutation conferring 2-fold risk for breast cancer. This gene also harbors other rare variants encountered in the clinical gene panels for hereditary cancer. One of these is CHEK2 c.1312 G > T, p.(Asp438Tyr) in the kinase domain of the protein, but due to its rarity
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Pilot study of the prevalence of autoimmune disorders in Li-Fraumeni syndrome Fam. Cancer (IF 2.2) Pub Date : 2023-01-11 Ixtaccihuatl H. Obregón, Kelvin C. de Andrade, Renee C. Bremer, Payal P. Khincha, Sharon A. Savage
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Two unique BAP1 pathogenic variants identified in the same family by panel cascade testing Fam. Cancer (IF 2.2) Pub Date : 2022-12-14 Lindsey Byrne, Cana Ingalls, Aliya Ansari, Cassie Porteus, Talia R. Donenberg, Daniel A. Sussman, Colleen M. Cebulla, Mohamed H. Abdel-Rahman
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A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome Fam. Cancer (IF 2.2) Pub Date : 2022-11-29 Ahmed Bouras, Pierre Naibo, Clémentine Legrand, François Le Marc’hadour, Eric Ruano, Chloé Grand-Masson, Cedrick Lefol, Qing Wang
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A retrospective cohort study of genetic referral and diagnosis of lynch syndrome in patients with cutaneous sebaceous lesions Fam. Cancer (IF 2.2) Pub Date : 2022-11-28 Meera Kattapuram, Christina Shabet, Sarah Austin, Michelle F. Jacobs, Erika Koeppe, Emily H. Smith, Lori Lowe, Tobias Else, Kelly B. Cha
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Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review Fam. Cancer (IF 2.2) Pub Date : 2022-11-23 Shahram Aziz, Hazel O’Sullivan, Kara Heelan, Afrina Alam, Terri P. McVeigh
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Laboratory variation in the grading of dysplasia of duodenal adenomas in familial adenomatous polyposis patients Fam. Cancer (IF 2.2) Pub Date : 2022-11-19 E. Soons, P. D. Siersema, L. M. A. van Lierop, T. M. Bisseling, M. C. A. van Kouwen, I. D. Nagtegaal, R. S. van der Post, F. Atsma
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Next-generation universal hereditary cancer screening: implementation of an automated hereditary cancer screening program for patients with advanced cancer undergoing tumor sequencing in a large HMO Fam. Cancer (IF 2.2) Pub Date : 2022-10-20 Trevor L. Hoffman, Hilary Kershberg, John Goff, Kimberly J. Holmquist, Reina Haque, Monica Alvarado
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InSiGHT 2022 Abstract Publishing and Best Abstract Awards Fam. Cancer (IF 2.2) Pub Date : 2022-10-19
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A need to tailor surveillance based on family history: describing a highly penetrant familial paraganglioma kindred with an SDHD pathogenic variant Fam. Cancer (IF 2.2) Pub Date : 2022-10-12 Madeline Foley, Anu Sharma, Kinley Garfield, Luke Maese, Luke Buchmann, Julie Boyle, Wendy Kohlmann, Joanne Jeter, Samantha Greenberg
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Barriers to completion of cascade genetic testing: how can we improve the uptake of testing for hereditary breast and ovarian cancer syndrome? Fam. Cancer (IF 2.2) Pub Date : 2022-10-08 Ryan Matthew Kahn, Muhammad Danyal Ahsan, Eloise Chapman-Davis, Kevin Holcomb, Roni Nitecki, Jose Alejandro Rauh-Hain, Rana Khan Fowlkes, Francesca Tubito, Maira Pires, Paul J Christos, Kaitlyn Tkachuk, Hannah Krinsky, Ravi N. Sharaf, Kenneth Offit, Steven Lipkin, Melissa K. Frey
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Determinants of adherence to recommendations on physical activity, red and processed meat intake, and body weight among lynch syndrome patients Fam. Cancer (IF 2.2) Pub Date : 2022-09-24 M Hoedjes, A Vrieling, L de Brauwer, A Visser, E Gómez García, N Hoogerbrugge, E Kampman
This study aimed to identify determinants of adherence to lifestyle and body weight recommendations for cancer prevention among Lynch Syndrome (LS) patients. Cross-sectional baseline data of LS patients participating in the Lifestyle & Lynch (LiLy) study was used to assess determinants of adherence to the World Cancer Research Fund cancer prevention recommendations on body weight, physical activity
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Identifying the BRCA1 c.-107A > T variant in Dutch patients with a tumor BRCA1 promoter hypermethylation Fam. Cancer (IF 2.2) Pub Date : 2022-09-16 Vincent M. T. de Jong, Roelof Pruntel, Tessa G. Steenbruggen, Fonnet E. Bleeker, Petra Nederlof, Frans B. L. Hogervorst, Sabine C. linn
An inherited single nucleotide variant (SNV) in the 5′UTR of the BRCA1 gene c.-107A > T was identified to be related to BRCA1 promoter hypermethylation and a hereditary breast and ovarian cancer phenotype in two UK families. We investigated whether this BRCA1 variant was also present in a Dutch cohort of breast and ovarian cancer patients with tumor BRCA1 promoter hypermethylation. We selected all