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Keywords Hereditary genetic susceptibil...

Hereditary genetic susceptibility to cancer

https://read.qxmd.com/read/38159086/a-novel-germline-mutation-of-brca1-and-integrated-analysis-with-somatic-mutation-in-a-chinese-multi-cancer-family
#21
JOURNAL ARTICLE
Xiling Yang, Li Shang, Liren Yang, Landi Sun, Xiaoqian Tuo, Sijia Ma, Le Zhao, Xu Li, Wenfang Yang
The presence of mutations in the BRCA1 gene (MIM: 113705) is widely recognized as a significant genetic predisposition for ovarian cancer. This study investigated the genomic mutations in a Chinese family with a history of ovarian, breast, and rectal adenocarcinoma. A novel germline mutation (Phe1695Val) in BRCA1 was identified through whole-exome sequencing. Subsequently, we performed whole-genome sequencing to identify somatic mutations and analyze mutational signatures in individuals carrying the novel germline mutation...
December 30, 2023: Oncologist
https://read.qxmd.com/read/38147532/surveillance-outcome-and-genetic-findings-in-individuals-at-high-risk-for-pancreatic-cancer
#22
JOURNAL ARTICLE
Guy Rosner, Erez Scapa, Tomer Ziv, Nathan Gluck, Merav Ben-Yehoyada
INTRODUCTION: Pancreatic ductal adenocarcinoma (PDAC) has a poor 5-year survival rate. PDAC surveillance is recommended in high-risk individuals (HRI) with strong PDAC family history or a pathogenic germline variant (PGV) in a PDAC-susceptibility gene. We aimed to explore a potential correlation between genetic status, extent of family history, pancreatic findings, and surveillance implications in heterogeneous PDAC HRIs. METHODS: 239 HRIs from 202 families were tested genetically and underwent prospective pancreatic surveillance for 6 years...
December 27, 2023: Clinical and Translational Gastroenterology
https://read.qxmd.com/read/38136276/detection-of-germline-mutations-in-a-cohort-of-250-relatives-of-mutation-carriers-in-multigene-panel-impact-of-pathogenic-variants-in-other-genes-beyond-brca1-2
#23
JOURNAL ARTICLE
Sara Di Rado, Roberta Giansante, Michela Cicirelli, Lucrezia Pilenzi, Anastasia Dell'Elice, Federico Anaclerio, Martina Rimoldi, Antonino Grassadonia, Simona Grossi, Nicole Canale, Patrizia Ballerini, Liborio Stuppia, Ivana Antonucci
BACKGROUND: Several hereditary-familial syndromes associated with various types of tumors have been identified to date, evidencing that hereditary cancers caused by germline mutations account for 5-10% of all tumors. Advances in genetic technology and the implementation of Next-Generation Sequencing (NGS) have accelerated the discovery of several susceptibility cancer genes, allowing for the detection of cancer-predisposing mutations in a larger number of cases. The aim of this study is to highlight how the application of an NGS-multigene panel to a group of oncological patients subsequently leads to improvement in the identification of carriers of healthy pathogenic variants/likely pathogenic variants (PVs/LPVs) and prevention of the disease in these cases...
December 6, 2023: Cancers
https://read.qxmd.com/read/38105176/direct-letters-to-relatives-at-risk-of-hereditary-cancer-study-protocol-for-a-multi-center-randomized-controlled-trial-of-healthcare-assisted-versus-family-mediated-risk-disclosure-at-swedish-cancer-genetics-clinics-direct-study
#24
JOURNAL ARTICLE
Carolina Hawranek, Hans Ehrencrona, Anna Öfverholm, Barbro Numan Hellquist, Anna Rosén
BACKGROUND: The results of germline genetic testing for hereditary cancer are of importance not only to the patients under investigation but also to their genetic at-risk relatives. Standard care is to encourage the proband (first family member under investigation) to pass on this risk information to the relatives. Previous research suggests that with family-mediated disclosure, only about a third of at-risk relatives contact health care to receive genetic counselling. In some studies, complementing family-mediated risk disclosure with healthcare-assisted risk disclosure almost doubles the uptake of genetic counselling in at-risk relatives...
December 17, 2023: Trials
https://read.qxmd.com/read/38075165/recurrent-genetic-variants-and-prioritization-of-variants-of-uncertain-clinical-significance-associated-with-hereditary-breast-and-ovarian-cancer-in-families-from-the-region-of-murcia
#25
JOURNAL ARTICLE
Laura Rosado-Jiménez, Younes Mestre-Terkemani, Ángeles García-Aliaga, Miguel Marín-Vera, José Antonio Macías-Cerrolaza, María Desamparados Sarabia-Meseguer, María Rosario García-Hernández, Marta Zafra-Poves, Pilar Sánchez-Henarejos, Francisco Ayala de la Peña, José Luis Alonso-Romero, José Antonio Noguera-Velasco, Francisco Ruiz-Espejo
OBJECTIVES: Hereditary breast and ovarian cancer (HBOC) follows an autosomal dominant inheritance pattern of cancer susceptibility genes. The risk of developing this disease is primarily associated with germline mutations in the BRCA1 and BRCA2 genes. The advent of massive genetic sequencing technologies has expanded the mutational spectrum of this hereditary syndrome, thereby increasing the number of variants of uncertain clinical significance (VUS) detected by genetic testing. METHODS: A prevalence study of HBOC was performed within 2,928 families from the Region of Murcia, in southeastern Spain...
September 2023: Adv Lab Med
https://read.qxmd.com/read/38074417/screening-for-mutations-in-hereditary-cancer-susceptibility-genes-in-a-region-with-high-endogamy-in-brazil
#26
JOURNAL ARTICLE
Polyanna Oliveira, Paula Correa, Angelina Acosta, Juliana Freitas, Taísa Machado-Lopes, Thais Bomfim-Palma, Ândrea Ribeiro-Dos-Santos, Sidney Santos, Roberto Nascimento, Ivana Nascimento, Kiyoko Abe-Sandes
Introduction  Cancer is a multifactorial disease dependent on the influence of genetic and environmental factors. About 10% of cancers are associated with germline mutations, which predispose to a higher risk of developing cancer. Currently, the use of panels that identify susceptibility and/or association genes cancer has been increasingly used, both in clinical practice and in scientific research. Objective  To investigate genetic mutations in patients with a profile for hereditary cancer in individuals from a region of northeast Brazil, where there is a high frequency of endogenous and consanguineous marriages...
December 2023: Global medical genetics
https://read.qxmd.com/read/38074042/carney-complex-and-its-association-with-thyroid-cancer-molecular-pathway-and-treatment
#27
REVIEW
Chetna Sachdev, Rajesh G Gattani, Jayesh Agrawal
Thyroid cancer, being the prevailing form of endocrine malignancy, exhibits a notable surge in its incidence rates. Follicular thyroid carcinoma (FTC) and papillary thyroid carcinoma (PTC) represent the predominant well-differentiated subtypes and are recognized as the most prevalent forms of thyroid carcinomas. Over the course of several years, numerous molecular, genetic, and epigenetic modifications have been discerned in diverse forms of thyroid neoplasms. Common occurrences comprise point mutations in the BRAF and RAS genes, along with chromosomal rearrangements involving the RET/PTC and PAX8/PPARγ genes...
November 2023: Curēus
https://read.qxmd.com/read/38070581/brd9-status-is-a-major-contributor-for-cysteine-metabolic-remodeling-through-mst-and-eaat3-modulation-in-malignant-melanoma
#28
JOURNAL ARTICLE
Ana Hipólito, Renato Xavier, Cheila Brito, Ana Tomás, Isabel Lemos, Luís C Cabaço, Fernanda Silva, Abel Oliva, Duarte C Barral, João B Vicente, Luís G Gonçalves, Marta Pojo, Jacinta Serpa
Cutaneous melanoma (CM) is the most aggressive skin cancer, showing globally increasing incidence. Hereditary CM accounts for a significant percentage (5-15 %) of all CM cases. However, most familial cases remain without a known genetic cause. Even though, BRD9 has been associated to CM as a susceptibility gene. The molecular events following BRD9 mutagenesis are still not completely understood. In this study, we disclosed BRD9 as a key regulator in cysteine metabolism and associated altered BRD9 to increased cell proliferation, migration and invasiveness, as well as to altered melanin levels, inducing higher susceptibility to melanomagenesis...
December 7, 2023: Biochimica et Biophysica Acta. Molecular Basis of Disease
https://read.qxmd.com/read/38062336/breast-cancers-in-monoallelic-mutyh-germline-mutation-carriers-have-clinicopathological-features-overlapping-with-those-in-brca1-germline-mutation-carriers
#29
JOURNAL ARTICLE
Aysenur Keske, Paul Weisman, Monica Ospina-Romero, Prachi Raut, Kelcy Smith-Simmer, Anna L Zakas, Christopher Flynn, Jin Xu
PURPOSE: Breast cancer patients referred to genetic counseling often undergo genetic testing with broad panels that include both breast cancer susceptibility genes as well as genes more specific for extramammary sites. As a result, patients are often incidentally found to have germline mutations in genes that are not necessarily related to breast cancer risk. One such gene is MUTYH. To understand the role MUTYH may play in breast cancer, the clinicopathological features of patients with monoallelic MUTYH germline mutation and breast cancer were examined...
December 7, 2023: Breast Cancer Research and Treatment
https://read.qxmd.com/read/38035841/-brca2-mutation-profile-in-a-proband-with-hereditary-breast-and-ovarian-cancer-two-germline-pathogenic-variants-aligned-in-the-cis-position
#30
JOURNAL ARTICLE
Seigo Yukisawa, Toshiyuki Kakinuma, Junko Yotsumoto, Kentaro Kawakami, Junji Furukawa, Hiroharu Shinozaki
We report the first Japanese case of hereditary breast and ovarian cancer(HBOC)carrying 2 germline pathogenic variants (GPVs)in the BRCA2 gene. Genetic testing of the BRCA1 and BRCA2 genes was performed in a young woman with HBOC and 2 GPVs were identified in the BRCA2 gene. Since simultaneous GPVs in both parental alleles(ie, trans)in the BRCA2 gene is diagnostic of Fanconi anemia, which is characterized by bone marrow dysfunction and susceptibility to malignancy, we genetically tested her relatives. The same variants were revealed, and both variants were located in the cis position...
October 2023: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://read.qxmd.com/read/38017478/breast-cancer-surveillance-in-brca-positive-sri-lankan-women-health-equity-for-a-high-risk-group-at-a-limited-resource-setting
#31
JOURNAL ARTICLE
Udari Apsara Liyanage, Nirmala Dushyanthi Sirisena, Pushpika Chathuranga Deshapriya, Vajira Harshadeva Weerabaddana Dissanayake
BACKGROUND: BRCA1 and BRCA2 pathogenic variants account for 90% of hereditary breast malignancies, incurring a lifetime breast cancer risk of 85% and 40-45% respectively, in affected individuals. Well-resourced health care settings offer genetic counselling and genetic screening for susceptible individuals, followed by intense breast cancer surveillance programmes for those identified at high risk of breast cancer. Such high standards of care are not available in countries with limited resources...
November 28, 2023: BMC Women's Health
https://read.qxmd.com/read/38017116/identification-and-characterization-of-atm-founder-mutation-in-brca-negative-breast-cancer-patients-of-arab-ethnicity
#32
JOURNAL ARTICLE
Rong Bu, Abdul K Siraj, Maha Al-Rasheed, Kaleem Iqbal, Saud Azam, Zeeshan Qadri, Wael Haqawi, Asma Tulbah, Fouad Al-Dayel, Osama Almalik, Khawla S Al-Kuraya
Breast cancer (BC) is the most prevalent malignancy among women worldwide with germline pathogenic variants/likely pathogenic variants (PVs/LPVs) in BRCA1/2 accounting for a large portion of hereditary cases. Recently, heterozygous PVs/LPVs in the ATM serine/threonine kinase or Ataxia-telangiectasia mutated gene (ATM) has been identified as a moderate susceptibility factor for BC in diverse ethnicities. However, the prevalence of ATM PVs/LPVs in BC susceptibility in Arab populations remains largely unexplored...
November 27, 2023: Scientific Reports
https://read.qxmd.com/read/37980640/genomic-analysis-of-breast-cancer-patients-from-kerala-a-novel-brca1-mutation-detected
#33
JOURNAL ARTICLE
Adarsh Dharmarajan, Vipin Gopinath, Sangeetha Keloth Nayanar, Sobhith Velandi Kunnummal, Satheesan Balasubramanian, Deepak Roshan Valiyaparambil Gopi
BACKGROUND: Breast cancer is the most common cancer among females, with an incidence of 6,41,000 cases annually. The genetic makeup of the individuals, ethnicity, geographical location, lifestyle, and BMI are some well-described factors associated with breast cancer. It is well known that pathogenic variants in BRCA1 and BRCA2 are associated with a majority of hereditary breast cancer. Genome-wide association studies (GWAS) have identified more than 80 germline susceptibility loci responsible for hereditary breast cancer...
2023: Breast Disease
https://read.qxmd.com/read/37958392/only-32-3-of-breast-cancer-families-with-pathogenic-variants-in-cancer-genes-utilized-cascade-genetic-testing
#34
JOURNAL ARTICLE
Konstantinos Agiannitopoulos, Kevisa Potska, Anastasia Katseli, Christina Ntogka, Georgios N Tsaousis, Georgia Pepe, Dimitra Bouzarelou, Nikolaos Tsoulos, Athanasios Papathanasiou, Dimitrios Ziogas, Vassileios Venizelos, Christos Markopoulos, Rodoniki Iosifidou, Sofia Karageorgopoulou, Stylianos Giassas, Ioannis Natsiopoulos, Konstantinos Papazisis, Maria Vasilaki-Antonatou, Amanta Psyrri, Anna Koumarianou, Dimitrios Matthaios, Eleni Zairi, Alexandru Blidaru, Eugeniu Banu, Dan Corneliu Jinga, Şahin Laçin, Mustafa Özdoğan, Eirini Papadopoulou, George Nasioulas
BACKGROUND: Hereditary cancer predisposition syndromes are responsible for approximately 5-10% of all diagnosed cancer cases. In order to identify individuals at risk in a cost-efficient manner, family members of individuals carrying pathogenic alterations are tested only for the specific variant that was identified in their carrier relative. The purpose of this study was to investigate the clinical use and implementation of cascade family testing (CFT) in families of breast cancer patients with pathogenic/likely pathogenic variants (PVs/LPVs) in cancer-related predisposition genes...
October 30, 2023: Cancers
https://read.qxmd.com/read/37913800/experiences-of-family-communication-and-cascade-genetic-testing-for-hereditary-cancer-in-medically-underserved-populations-a-qualitative-study
#35
JOURNAL ARTICLE
Erica M Bednar, J Alejandro Rauh-Hain, Jose J Garcia, Norma de Aguinaga, Mary Anne Powell, Sylvia L Peral, Roni Nitecki, Kirsten Jorgensen, Natasha L Rudy, Karen H Lu, Charles A Leath, Isabel C Scarinci
We sought to explore the intrafamilial communication and cascade genetic testing (CGT) experiences of patients with hereditary cancer from diverse, medically underserved populations and their relatives. Participants included patients receiving oncology care at an urban, safety-net hospital in Texas or comprehensive cancer center in Alabama and their first-degree relatives. In-depth semi-structured qualitative interviews were completed wherein patients shared their experiences with genetic counseling (GC), genetic testing (GT), and communicating their results to relatives...
November 2, 2023: Cancer Prevention Research
https://read.qxmd.com/read/37894428/tumor-testing-and-genetic-analysis-to-identify-lynch-syndrome-patients-in-an-italian-colorectal-cancer-cohort
#36
JOURNAL ARTICLE
Antonino Pantaleo, Giovanna Forte, Filomena Cariola, Anna Maria Valentini, Candida Fasano, Paola Sanese, Valentina Grossi, Antonia Lucia Buonadonna, Katia De Marco, Martina Lepore Signorile, Anna Filomena Guglielmi, Andrea Manghisi, Gianluigi Gigante, Raffaele Armentano, Vittoria Disciglio, Cristiano Simone
Lynch syndrome (LS) is an inherited cancer susceptibility syndrome caused by germline mutations in a DNA mismatch repair (MMR) gene or in the EPCAM gene. LS is associated with an increased lifetime risk of colorectal cancer (CRC) and other malignancies. The screening algorithm for LS patient selection is based on the identification of CRC specimens that have MMR loss/high microsatellite instability (MSI-H) and are wild-type for BRAF V600 . Here, we sought to clinically and molecularly characterize patients with these features...
October 19, 2023: Cancers
https://read.qxmd.com/read/37861889/hereditary-cancer-testing-in-a-diverse-sample-across-three-breast-imaging-centers
#37
JOURNAL ARTICLE
Laura Westbrook, Darlene Miltenburg, Vivienne Souter, Melissa K Maisenbacher, Katherine L Howard, Youbao Sha, Maygol Yavari, Nicholas Kypraios, Angel Rodriguez, Jeffrey N Weitzel
PURPOSE: Up to 10% of all breast cancers (BC) are attributed to inherited pathogenic variants (PV) in BC susceptibility genes; however, most carriers of PVs remain unidentified. Here, we sought to determine the yield of hereditary cancer gene PVs among diverse women attending breast imaging centers, who could benefit from enhanced surveillance and/or risk reduction interventions. METHODS: This cross-sectional retrospective cohort study included consecutive women, unselected for personal or family cancer history, who were offered genetic testing for hereditary cancer genes at the time of breast imaging at three centers (November 2020-March 2022)...
October 20, 2023: Breast Cancer Research and Treatment
https://read.qxmd.com/read/37854294/the-largest-chinese-cohort-study-indicates-homologous-recombination-pathway-gene-mutations-as-another-major-genetic-risk-factor-for-colorectal-cancer-with-heterogeneous-clinical-phenotypes
#38
JOURNAL ARTICLE
Yun Xu, Kai Liu, Cong Li, Minghan Li, Fangqi Liu, Xiaoyan Zhou, Menghong Sun, Megha Ranganathan, Liying Zhang, Sheng Wang, Xin Hu, Ye Xu
While genetic factors were associated with over 30% of colorectal cancer (CRC) patients, mutations in CRC-susceptibility genes were identified in only 5% to 10% of these patients. Besides, previous studies on hereditary CRC were largely designed to analyze germline mutations in patients with single genetic high-risk factor, which limited understanding of the association between genotype and phenotypes. From January 2015 to December 2018, we retrospectively enrolled 2,181 patients from 8,270 consecutive CRC cases, covering 5 categories of genetic high-risk factors...
2023: Research: a science partner journal
https://read.qxmd.com/read/37725924/systematic-minigene-based-splicing-analysis-and-tentative-clinical-classification-of-52-chek2-splice-site-variants
#39
JOURNAL ARTICLE
Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo, Elena Bueno-Martínez, Ada Esteban-Sánchez, Víctor Lorca, Inés Llinares-Burguet, Alicia García-Álvarez, Pedro Pérez-Segura, Mar Infante, Douglas F Easton, Peter Devilee, Maaike P G Vreeswijk, Miguel de la Hoya, Eladio A Velasco-Sampedro
BACKGROUND: Disrupted pre-mRNA splicing is a frequent deleterious mechanism in hereditary cancer. We aimed to functionally analyze candidate spliceogenic variants of the breast cancer susceptibility gene CHEK2 by splicing reporter minigenes. METHODS: A total of 128 CHEK2 splice-site variants identified in the Breast Cancer After Diagnostic Gene Sequencing (BRIDGES) project (https://cordis.europa.eu/project/id/634935) were analyzed with MaxEntScan and subsetted to 52 variants predicted to impact splicing...
September 19, 2023: Clinical Chemistry
https://read.qxmd.com/read/37723522/the-clinical-utility-and-costs-of-whole-genome-sequencing-to-detect-cancer-susceptibility-variants-a-multi-site-prospective-cohort-study
#40
MULTICENTER STUDY
Aimee L Davidson, Uwe Dressel, Sarah Norris, Daffodil M Canson, Dylan M Glubb, Cristina Fortuno, Georgina E Hollway, Michael T Parsons, Miranda E Vidgen, Oliver Holmes, Lambros T Koufariotis, Vanessa Lakis, Conrad Leonard, Scott Wood, Qinying Xu, Amy E McCart Reed, Hilda A Pickett, Mohammad K Al-Shinnag, Rachel L Austin, Jo Burke, Elisa J Cops, Cassandra B Nichols, Annabel Goodwin, Marion T Harris, Megan J Higgins, Emilia L Ip, Catherine Kiraly-Borri, Chiyan Lau, Julia L Mansour, Michael W Millward, Melissa J Monnik, Nicholas S Pachter, Abiramy Ragunathan, Rachel D Susman, Sharron L Townshend, Alison H Trainer, Simon L Troth, Katherine M Tucker, Mathew J Wallis, Maie Walsh, Rachel A Williams, Ingrid M Winship, Felicity Newell, Emma Tudini, John V Pearson, Nicola K Poplawski, Helen G Mar Fan, Paul A James, Amanda B Spurdle, Nicola Waddell, Robyn L Ward
BACKGROUND: Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families may carry pathogenic variants in cancer predisposition genes and be at higher risk for developing cancer. METHODS: This multi-centre prospective study recruited 195 cancer-affected participants suspected to have a hereditary cancer syndrome for whom previous clinical targeted genetic testing was either not informative or not available...
September 19, 2023: Genome Medicine
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