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Hereditary Cancer in Clinical Practice

Toni T Seppälä, Aysel Ahadova, Mev Dominguez-Valentin, Finlay Macrae, D Gareth Evans, Christina Therkildsen, Julian Sampson, Rodney Scott, John Burn, Gabriela Möslein, Inge Bernstein, Elke Holinski-Feder, Kirsi Pylvänäinen, Laura Renkonen-Sinisalo, Anna Lepistö, Charlotte Kvist Lautrup, Annika Lindblom, John-Paul Plazzer, Ingrid Winship, Douglas Tjandra, Lior H Katz, Stefan Aretz, Robert Hüneburg, Stefanie Holzapfel, Karl Heinimann, Adriana Della Valle, Florencia Neffa, Nathan Gluck, Wouter H de Vos Tot Nederveen Cappel, Hans Vasen, Monika Morak, Verena Steinke-Lange, Christoph Engel, Nils Rahner, Wolff Schmiegel, Deepak Vangala, Huw Thomas, Kate Green, Fiona Lalloo, Emma J Crosbie, James Hill, Gabriel Capella, Marta Pineda, Matilde Navarro, Ignacio Blanco, Sanne Ten Broeke, Maartje Nielsen, Ken Ljungmann, Sigve Nakken, Noralane Lindor, Ian Frayling, Eivind Hovig, Lone Sunde, Matthias Kloor, Jukka-Pekka Mecklin, Mette Kalager, Pål Møller
Background: Recent epidemiological evidence shows that colorectal cancer (CRC) continues to occur in carriers of pathogenic mismatch repair ( path_MMR ) variants despite frequent colonoscopy surveillance in expert centres. This observation conflicts with the paradigm that removal of all visible polyps should prevent the vast majority of CRC in path_MMR carriers, provided the screening interval is sufficiently short and colonoscopic practice is optimal. Methods: To inform the debate, we examined, in the Prospective Lynch Syndrome Database (PLSD), whether the time since last colonoscopy was associated with the pathological stage at which CRC was diagnosed during prospective surveillance...
2019: Hereditary Cancer in Clinical Practice
Fabrice Kwiatkowski, Mathilde Gay-Bellile, Pascal Dessenne, Claire Laquet, Véronique Boussion, Marie Béguinot, Marie-Françoise Petit, Anne-Sophie Grémeau, Céline Verlet, Charlotte Chaptal, Marilyn Broult, Sylvie Jouvency, Martine Duclos, Yves-Jean Bignon
Background: In families with high risk of hereditary breast/ovarian cancer (HBOC), women before age 30 do not yet undergo clinical screening, but they are exposed to contradictory information from diverse sources. They may be presented with surgical prevention options at a key moment of their identity construction, the start of a marital relationship and/or at the onset of procreation projects. We tested an original psychoeducational intervention to help these women better cope with these difficult issues...
2019: Hereditary Cancer in Clinical Practice
Jonas Henn, Isabel Spier, Ronja S Adam, Stefanie Holzapfel, Siegfried Uhlhaas, Katrin Kayser, Guido Plotz, Sophia Peters, Stefan Aretz
Background: In a considerable number of patients with a suspected hereditary tumor syndrome (HTS), no underlying germline mutation is detected in the most likely affected genes. The present study aimed to establish and validate a large gene panel for HTS, and determine its diagnostic yield and clinical utility. Methods: The study cohort comprised 173 patients with suspected, but unexplained, HTS (group U) and 64 HTS patients with a broad spectrum of known germline mutations (group K)...
2019: Hereditary Cancer in Clinical Practice
Chantal Farra, Christelle Dagher, Rebecca Badra, Miza Salim Hammoud, Raafat Alameddine, Johnny Awwad, Muhieddine Seoud, Jaber Abbas, Fouad Boulos, Nagi El Saghir, Deborah Mukherji
Background: Previous studies have suggested that the prevalence of BRCA1 and 2 mutations in the Lebanese population is low despite the observation that the median age of breast cancer diagnosis is significantly lower than European and North American populations. We aimed at reviewing the rates and patterns of BRCA1/2 mutations found in individuals referred to the medical genetics unit at the American University of Beirut. We also evaluated the performance of clinical prediction tools...
2019: Hereditary Cancer in Clinical Practice
Marta Ramírez-Calvo, Zaida García-Casado, Antonio Fernández-Serra, Inmaculada de Juan, Sarai Palanca, Silvestre Oltra, José Luis Soto, Adela Castillejo, Víctor M Barbera, Ma José Juan-Fita, Ángel Segura, Isabel Chirivella, Ana Beatriz Sánchez, Isabel Tena, Carolina Chaparro, Dolores Salas, José Antonio López-Guerrero
Background: Approximately 5 to 10% of all cancers are caused by inherited germline mutations, many of which are associated with different Hereditary Cancer Syndromes (HCS). In the context of the Program of Hereditary Cancer of the Valencia Community, individuals belonging to specific HCS and their families receive genetic counselling and genetic testing according to internationally established guidelines. The current diagnostic approach is based on sequencing a few high-risk genes related to each HCS; however, this method is time-consuming, expensive and does not achieve a confirmatory genetic diagnosis in many cases...
2019: Hereditary Cancer in Clinical Practice
Leslie Bucheit, Katherine Johansen Taber, Kaylene Ready
Background: The number of individuals meeting criteria for genetic counseling and testing for hereditary cancer syndromes (HCS) is far less than the number that actually receive it. To facilitate identification of patients at risk for HCS, Counsyl developed a digital identification tool (digital ID tool) to match personal and family cancer history to National Comprehensive Cancer Network (NCCN) BRCA-related Hereditary Breast and Ovarian Cancer (HBOC), Lynch syndrome, and polyposis testing criteria in one-to-one, automated fashion...
2019: Hereditary Cancer in Clinical Practice
Hakyoung Kim, Doo Ho Choi, Won Park, Young-Hyuck Im, Jin Seok Ahn, Yeon Hee Park, Seok Jin Nam, Seok Won Kim, Jeong Eon Lee, Jong Hwan Yu, Se Kyung Lee, Boo Yeon Jung
Background: As a large-scale study of Koreans, we evaluated the association between BRCA mutation and the prevalence of non-breast and ovary cancers in first- and second-degree relatives of high-risk breast cancer patients. Methods: We organized familial pedigrees of 2555 patients with breast cancer who underwent genetic screening for BRCA1/2 in Samsung Medical Center between January 2002 and May 2018. Families with a member that had a history of cancer other than of the breast or ovary were regarded positive for other primary cancer...
2019: Hereditary Cancer in Clinical Practice
Frederike S Franke, Elvira Matthäi, Emily P Slater, Christoph Schicker, Johannes Kruse, Detlef K Bartsch
Background: Pancreatic cancer screening is recommended to individuals at risk (IAR) of familial pancreatic cancer (FPC) families, but little is known about the acceptance of such screening programs. Thus, the acceptance and psychological aspects of a controlled FPC screening program was evaluated. Methods: IAR of FPC families underwent comprehensive counseling by a geneticist and pancreatologist prior to the proposed screening. Participating IAR, IAR who discontinued screening and IAR who never participated in the screening program were invited to complete questionnaires to assess the motivation for participating in surveillance, cancer worries, structural distress and experiences with participation...
2018: Hereditary Cancer in Clinical Practice
Masoud Karimi, Jenny von Salomé, Christos Aravidis, Gustav Silander, Marie Stenmark Askmalm, Isabelle Henriksson, Samuel Gebre-Medhin, Jan-Erik Frödin, Erik Björck, Kristina Lagerstedt-Robinson, Annika Lindblom, Emma Tham
Background: Lynch Syndrome is an autosomal dominant cancer syndrome caused by pathogenic germ-line variants in one of the DNA-mismatch-repair (MMR) genes MLH1, MSH2, MSH6 or PMS2 . Carriers are predisposed to colorectal and endometrial cancer, but also other cancer types. The purpose of this retrospective study was to characterize the tumour spectrum of the Swedish Lynch syndrome families. Methods: Data were obtained from genetically verified 235 Lynch families from five of the six health care regions in Sweden...
2018: Hereditary Cancer in Clinical Practice
Marie T Krüger, Jan-Helge Klingler, Cordula Jilg, Christine Steiert, Stefan Zschiedrich, Vera Van Velthoven, Sven Gläsker
Background: Hemangioblastomas are associated with elevated hemoglobin (Hb) levels (polyglobulia), which is associated with a higher risk for cerebral stroke, cardiac infarction and pulmonary embolism. The pathomechanism of polyglobulia remains unclear and different theories have been postulated. Among those are elevated serum erythropoietin (EPO) levels caused by secretion of the tumor or associated tumor cyst. Methods: To elucidate the pathomechanism, we systematically investigated the relation between polyglobulia, serum EPO level, size of the solid tumor and associated cyst in hemangioblastomas...
2018: Hereditary Cancer in Clinical Practice
Merran Holmes, Toni Connor, Christopher Oldmeadow, Peter G Pockney, Rodney J Scott, Bente A Talseth-Palmer
Background: Familial adenomatous polyposis (FAP) is a well characterised genetic predisposition to early onset colorectal cancer (CRC) that is characterised by polyposis of the colon and rectum. Animal models have consistently suggested the role of modifier genes in determining disease phenotype, yet none have been substantiated in the human population. The mouse homologue of cluster of differentiation 36 ( CD36) has been proposed as a modifier of disease in the MIN mouse model of FAP...
2018: Hereditary Cancer in Clinical Practice
Rachel Isaksson Vogel, Kristin Niendorf, Heewon Lee, Sue Petzel, Hee Yun Lee, Melissa A Geller
Background: National guidelines recommend genetic counseling for all ovarian cancer patients because up to 20% of ovarian cancers are thought to be due to hereditary cancer syndromes and effective cancer screening and prevention options exist for at-risk family members. Despite these recommendations, uptake of genetic counselling and testing is low. The goal of this study was to identify barriers to and motivators for receipt of genetic counseling along with preferences regarding potential use of a mobile application to promote genetic counseling...
2018: Hereditary Cancer in Clinical Practice
J Maksimenko, A Irmejs, G Trofimovičs, D Bērziņa, E Skuja, G Purkalne, E Miklaševičs, J Gardovskis
Background: Pathogenic BRCA1 founder mutations (c.4035delA, c.5266dupC) contribute to 3.77% of all consecutive primary breast cancers and 9.9% of all consecutive primary ovarian cancers. Identifying germline pathogenic gene variants in patients with primary breast and ovarian cancer could significantly impact the medical management of patients. The aim of the study was to evaluate the rate of pathogenic mutations in the 26 breast and ovarian cancer susceptibility genes in patients who meet the criteria for BRCA1/2 testing and to compare the accuracy of different selection criteria for second-line testing in a founder population...
2018: Hereditary Cancer in Clinical Practice
Jennifer L Schneider, Katrina A B Goddard, Kristin R Muessig, James V Davis, Alan F Rope, Jessica E Hunter, Susan K Peterson, Louise S Acheson, Sapna Syngal, Georgia L Wiesner, Jacob A Reiss
Background: Patients with a genetic variant associated with Lynch syndrome (LS) are recommended to undergo frequent and repeated cancer surveillance activities to minimize cancer-related morbidity and mortality. Little is known about how patients and primary care providers (PCPs) track and manage these recommendations. We conducted a small exploratory study of patient and PCP experiences with recommended LS surveillance activities and communication with family members in an integrated health care system...
2018: Hereditary Cancer in Clinical Practice
Amanda J Compadre, Melinda E Simonson, Katy Gray, Gail Runnells, Susan Kadlubar, Kristin K Zorn
Background: African-American women, especially in the southern United States, are underrepresented in cancer genetics research. A study was designed to address this issue by investigating the germline mutation rate in African-American women in Arkansas with a personal and/or family history of breast cancer. Women were tested for these mutations using a large panel of breast cancer susceptibility genes. In this analysis, we discuss the challenges encountered in recruiting African-American women from an existing biorepository to participate in this study...
2018: Hereditary Cancer in Clinical Practice
Pål Møller, Eivind Hovig
[This retracts the article DOI: 10.1186/s13053-017-0080-y.].
2018: Hereditary Cancer in Clinical Practice
Nikolai Havn Sæther, Elina Skuja, Arvids Irmejs, Jelena Maksimenko, Edvins Miklasevics, Gunta Purkalne, Janis Gardovskis
Background: There is increasing evidence of high platinum sensitivity in BRCA -associated breast cancer. However, evidence from randomized trials is lacking. The aim of this study was to analyze the results of platinum-based chemotherapy for BRCA1-positive breast cancer in a neoadjuvant setting. Methods: A retrospective study was performed by obtaining information from patient files. The results were compared with the available data from a literature review. Results: Twelve female patients with BRCA1 gene mutations who had stage I to III breast cancers were eligible for evaluation...
2018: Hereditary Cancer in Clinical Practice
Carol Cremin, Sarah Howard, Lyly Le, Aly Karsan, David F Schaeffer, Daniel Renouf, Kasmintan A Schrader
Background: Approximately 5% to 10% of pancreatic ductal adenocarcinoma (PDAC) has a hereditary basis. In most of these defined hereditary cancer syndromes, PDAC is not the predominant cancer type. Traditional criteria for publicly funded genetic testing typically require the presence of a set combination of the predominant syndrome-associated cancer types in the family history.We report the identification of a CDKN2A pathogenic variant in a PDAC-prone family without the cutaneous features of multiple moles or melanoma that are characteristic of the Familial Atypical Multiple Mole Melanoma (FAMMM) Syndrome identified in a universal testing algorithm for inherited mutations in pancreatic cancer patients...
2018: Hereditary Cancer in Clinical Practice
Tomasz Kluz, Andrzej Jasiewicz, Elżbieta Marczyk, Robert Jach, Anna Jakubowska, Jan Lubiński, Steven A Narod, Jacek Gronwald
Background: Causative variants in BRCA1 and BRCA2 are well-established risk factors for breast and ovarian cancer. In Poland, the causative founder variants in the BRCA1 are responsible for a significant proportion of ovarian cancer cases, however, regional differences in the frequencies of various mutations may exist. The spectrum and frequency of BRCA1/2 mutations between ovarian cancer patients have not yet been studied in the region of South-East Poland. Methods: We examined 158 consecutive unselected cases of ovarian cancer patients from the region of Podkarpacie...
2018: Hereditary Cancer in Clinical Practice
Mev Dominguez-Valentin, D Gareth R Evans, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller, Eivind Hovig
Background: In kindreds carrying path_BRCA1/2 variants, some women in these families will develop cancer despite testing negative for the family's pathogenic variant. These families may have additional genetic variants, which not only may increase the susceptibility of the families' path_BRCA1/2, but also be capable of causing cancer in the absence of the path_BRCA1/2 variants. We aimed to identify novel genetic variants in prospectively detected breast cancer (BC) or gynecological cancer cases tested negative for their families' pathogenic BRCA1/2 variant ( path_BRCA1 or path_BRCA2 )...
2018: Hereditary Cancer in Clinical Practice
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