keyword
https://read.qxmd.com/read/38311708/targeting-brca-and-palb2-in-pancreatic-cancer
#21
REVIEW
Sriram Anbil, Kim A Reiss
An important subgroup of pancreatic ductal adenocarcinomas (PDACs) harbor pathogenic variants in BRCA1, BRCA2, or PALB2. These tumors are exquisitely sensitive to platinum-based chemotherapy and patients may experience deep and durable responses to this treatment. PARP inhibitors offer potential respite from the cumulative toxicities of chemotherapy as they significantly extend progression-free survival compared to a chemotherapy holiday. Given the lack of proven survival benefit, the decision to use a maintenance PARP inhibitor rather than continue chemotherapy should be individualized...
January 4, 2024: Current Treatment Options in Oncology
https://read.qxmd.com/read/38278448/histologic-patterns-in-prostatic-adenocarcinoma-are-not-predictive-of-mutations-in-the-homologous-recombination-repair-pathway
#22
JOURNAL ARTICLE
Jon Mahlow, Marc Barry, Daniel J Albertson, Yeon Jung Jo, Michael Balatico, Tori Seasor, Georges Gebrael, Shruti A Kumar, Nicolas Sayegh, Nishita Tripathi, Neeraj Agarwal, Umang Swami, Deepika Sirohi
Somatic or germline homologous recombination repair (HRR) pathway gene mutations are commonly detected in prostate cancer, especially in advanced disease, and are associated with response to poly (ADP-ribose) polymerase (PARP) inhibitors. In this study, we evaluated whether histological patterns are predictive of HRR pathway gene mutations. The study population comprised 130 patients with advanced prostate carcinoma who underwent comprehensive genomic profiling (CGP) of tumor tissue at a CLIA-certified laboratory...
February 2024: Human Pathology
https://read.qxmd.com/read/38270937/investigation-of-genetic-alterations-associated-with-interval-breast-cancer
#23
JOURNAL ARTICLE
Juan Rodriguez, Felix Grassmann, Qingyang Xiao, Mikael Eriksson, Xinhe Mao, Svetlana Bajalica-Lagercrantz, Per Hall, Kamila Czene
IMPORTANCE: Breast cancers (BCs) diagnosed between 2 screening examinations are called interval cancers (ICs), and they have worse clinicopathological characteristics and poorer prognosis than screen-detected cancers (SDCs). However, the association of rare germline genetic variants with IC have not been studied. OBJECTIVE: To evaluate whether rare germline deleterious protein-truncating variants (PTVs) can be applied to discriminate between IC and SDC while considering mammographic density...
January 25, 2024: JAMA Oncology
https://read.qxmd.com/read/38254917/the-mutational-spectrum-of-pre-and-post-neoadjuvant-chemotherapy-triple-negative-breast-cancers
#24
JOURNAL ARTICLE
Adriana Aguilar-Mahecha, Najmeh Alirezaie, Josiane Lafleur, Eric Bareke, Ewa Przybytkowski, Cathy Lan, Luca Cavallone, Myriam Salem, Manuela Pelmus, Olga Aleynikova, Celia Greenwood, Amanda Lovato, Cristiano Ferrario, Jean-François Boileau, Catalin Mihalcioiu, Josée-Anne Roy, Elizabeth Marcus, Federico Discepola, Jacek Majewski, Mark Basik
The response of triple-negative breast cancer (TNBC) patients to pre-operative (neoadjuvant chemotherapy) is a critical factor of their outcome. To determine the effects of chemotherapy on the tumor genome and to identify mutations associated with chemoresistance and sensitivity, we performed whole exome sequencing on pre/post-chemotherapy tumors and matched lymphocytes from 26 patients. We observed great inter-tumoral heterogeneity with no gene mutated recurrently in more than four tumors besides TP53. Although the degree of response to chemotherapy in residual tumors was associated with more subclonal changes during chemotherapy, there was minimal evolution between pre/post-tumors...
December 23, 2023: Genes
https://read.qxmd.com/read/38248108/counselling-framework-for-germline-brca1-2-and-palb2-carriers-considering-risk-reducing-mastectomy
#25
REVIEW
Stephanie M Wong, Carla Apostolova, Elisheva Eisenberg, William D Foulkes
Female BRCA1/2 and PALB2 germline pathogenic variant carriers have an increased lifetime risk of breast cancer and may wish to consider risk-reducing mastectomy (RRM) for surgical prevention. Quantifying the residual lifetime risk and absolute benefit from RRM requires careful consideration of a patient's age, pathogenic variant, and their personal history of breast or ovarian cancer. Historically, patients have been counselled that RRM does not necessarily prolong survival relative to high-risk surveillance, although recent studies suggest a possible survival benefit of RRM in BRCA1 carriers...
January 9, 2024: Current Oncology
https://read.qxmd.com/read/38244928/longitudinal-profiling-identifies-co-occurring-brca1-2-reversions-tp53bp1-rif1-and-paxip1-mutations-in-parp-inhibitor-resistant-advanced-breast-cancer
#26
JOURNAL ARTICLE
E Harvey-Jones, M Raghunandan, L Robbez-Masson, L Magraner-Pardo, T Alaguthurai, A Yablonovitch, J Yen, H Xiao, R Brough, J Frankum, F Song, J Yeung, T Savy, A Gulati, J Alexander, H Kemp, C Starling, A Konde, R Marlow, M Cheang, P Proszek, M Hubank, M Cai, J Trendell, R Lu, R Liccardo, N Ravindran, A Llop-Guevara, O Rodriguez, J Balmana, N Lukashchuk, M Dorschner, L Drusbosky, I Roxanis, V Serra, S Haider, S J Pettitt, C J Lord, A N J Tutt
BACKGROUND: Resistance to therapies that target homologous recombination deficiency (HRD) in breast cancer limits their overall effectiveness. Multiple, preclinically validated, mechanisms of resistance have been proposed, but their existence and relative frequency in clinical disease are unclear, as is how to target resistance. PATIENTS AND METHODS: Longitudinal mutation and methylation profiling of circulating tumour (ct)DNA was carried out in 47 patients with metastatic BRCA1-, BRCA2- or PALB2-mutant breast cancer treated with HRD-targeted therapy who developed progressive disease-18 patients had primary resistance and 29 exhibited response followed by resistance...
January 19, 2024: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://read.qxmd.com/read/38223534/brca2-palb2-recql4-germline-pathogenic-variants-and-somatic-tp53-mutation-in-triple-metachronous-malignancies-a-case-report-and-literature-review
#27
Yang Liu, Hui Yang, Xueshu Fu, Luting Zhong, Ping Xu, Fang Fang, Ying Liu, Qing Li, Ya'nan Yan, Shanchuang Wei, Junqing Wang, Chunhua Zhang
BACKGROUND: Multiple primary cancer (MPC) refers to the presence of more than one cancer in an individual. Triple primary malignancies are uncommon. CASE: We report the case of a 50-year-old postmenopausal woman in our gynecology department, diagnosed with endometrial cancer, ovarian cancer, and unilateral breast cancer. She carried germline mutations in BRCA2, PALB2, and RECQL4, along with a somatic pathogenic variant in TP53. Endometrial cancer patients harboring germline pathogenic variants in BRCA2 exhibit a heightened risk of ovarian and breast cancer...
2024: International Medical Case Reports Journal
https://read.qxmd.com/read/38220043/high-resolution-genotyping-of-formalin-fixed-tissue-accurately-estimates-polygenic-risk-scores-in-human-diseases
#28
JOURNAL ARTICLE
Omar Youssef, Anu Loukola, Yossra H S Zidi-Mouaffak, Max Tamlander, Sanni Ruotsalainen, Elina Kilpeläinen, Nina Mars, Samuli Ripatti, Aarno Palotie, Kati Donner, Olli Carpén
Formalin-fixed paraffin-embedded (FFPE) tissues stored in biobanks and pathology archives are a vast but underutilized source for molecular studies on different diseases. Beyond being the gold standard for preservation of diagnostic human tissues, FFPE samples retain similar genetic information as matching blood samples, which could make FFPE samples an ideal resource for genomic analysis. However, research on this resource has been hindered by the perception that DNA extracted from FFPE samples is of poor quality...
January 12, 2024: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://read.qxmd.com/read/38201484/understanding-the-genetic-landscape-of-pancreatic-ductal-adenocarcinoma-to-support-personalized-medicine-a-systematic-review
#29
REVIEW
Antonino Pantaleo, Giovanna Forte, Candida Fasano, Martina Lepore Signorile, Paola Sanese, Katia De Marco, Elisabetta Di Nicola, Marialaura Latrofa, Valentina Grossi, Vittoria Disciglio, Cristiano Simone
Pancreatic ductal adenocarcinoma (PDAC) is one of the most fatal malignancies worldwide. While population-wide screening recommendations for PDAC in asymptomatic individuals are not achievable due to its relatively low incidence, pancreatic cancer surveillance programs are recommended for patients with germline causative variants in PDAC susceptibility genes or a strong family history. In this study, we sought to determine the prevalence and significance of germline alterations in major genes ( ATM , BRCA1 , BRCA2 , CDKN2A , EPCAM , MLH1 , MSH2 , MSH6 , PALB2 , PMS2 , STK11 , TP53 ) involved in PDAC susceptibility...
December 21, 2023: Cancers
https://read.qxmd.com/read/38201431/digging-into-the-ngs-information-from-a-large-scale-south-european-population-with-metastatic-unresectable-pancreatic-ductal-adenocarcinoma-a-real-world-genomic-depiction
#30
JOURNAL ARTICLE
Dimitrios C Ziogas, Eirini Papadopoulou, Helen Gogas, Stratigoula Sakellariou, Evangellos Felekouras, Charalampos Theocharopoulos, Dimitra T Stefanou, Maria Theochari, Ioannis Boukovinas, Dimitris Matthaios, Anna Koumarianou, Eleni Zairi, Michalis Liontos, Konstantinos Koutsoukos, Vasiliki Metaxa-Mariatou, George Kapetsis, Angeliki Meintani, Georgios N Tsaousis, George Nasioulas
Despite ongoing oncological advances, pancreatic ductal adenocarcinoma (PDAC) continues to have an extremely poor prognosis with limited targeted and immunotherapeutic options. Its genomic background has not been fully characterized yet in large-scale populations all over the world. Methods: Replicating a recent study from China, we collected tissue samples from consecutive Greek patients with pathologically-confirmed metastatic/unresectable PDAC and retrospectively investigated their genomic landscape using next generation sequencing (NGS)...
December 19, 2023: Cancers
https://read.qxmd.com/read/38190969/-news-in-breast-oncology-genetics-for-female-and-male-population
#31
JOURNAL ARTICLE
Nicolas Taris, Elisabeth Luporsi, Marine Osada, Marie Thiblet, Carole Mathelin
OBJECTIVES: Breast oncology genetics emerged almost 30 years ago with the discovery of the BRCA1 and BRCA2 genes. The evolution of analytical practices has progressively allowed access to tests whose results now have a considerable impact on the management of both female and male breast cancers.The Sénologie Commission of the Collège National des Gynécologues et Obstétriciens Français (CNGOF) asked five specialists in breast surgery, oncology and oncological genetics to draw up a summary of the oncogenetic testing criteria used and the clinical implications for the female and male population of the test results, with or without an identified causal variant...
January 6, 2024: Gynecologie, Obstetrique, Fertilite & Senologie
https://read.qxmd.com/read/38165228/genetic-predisposition-to-differentiated-thyroid-cancer-among-polish-population
#32
JOURNAL ARTICLE
Martyna Borowczyk, Mateusz Sypniewski, Joanna Szyda, Małgorzata Braszka, Katarzyna Ziemnicka, Marek Ruchała, Michalina Oszywa, Zbigniew J Król, Paula Dobosz
INTRODUCTION: The genome sequencing technologies reveal the molecular mechanisms of differentiated thyroid cancer (DTC). Unlike somatic mutation analysis from thyroidectomy samples, germline mutations showing genetic susceptibility to DTC are less understood. OBJECTIVES: The study aimed to assess the prevalence of germline mutations predisposing to DTC in a cohort of Polish individuals based on their whole genome sequencing (WGS) data. PATIENTS AND METHODS: We analyzed sequencing data from 1076 unrelated individuals totaling over 1018 billion read pairs and yielding an average 35...
January 2, 2024: Polish Archives of Internal Medicine
https://read.qxmd.com/read/38153744/the-potential-of-genetics-in-identifying-women-at-lower-risk-of-breast-cancer
#33
JOURNAL ARTICLE
Alexandre Bolze, Elizabeth T Cirulli, Catherine Hajek, Jamie M Schnell Blitstein, Joseph J Grzymski
IMPORTANCE: Genetic information is not being used to identify women at lower risk of breast cancer or other diseases in clinical practice. With the new US Preventive Services Task Force guidelines lowering the age for mammogram screening for all, there is a potential benefit in identifying women at lower risk of disease who may defer the start of mammographic screening. This genetic risk-based approach would help mitigate overscreening, associated costs, and anxiety. OBJECTIVE: To assess breast cancer incidence and age of onset among women at low genetic risk compared with women at average risk and evaluate the potential to delay mammography on the basis of genetic risk stratification...
December 28, 2023: JAMA Oncology
https://read.qxmd.com/read/38124008/recontact-to-return-new-or-updated-palb2-genetic-results-in-the-clinical-laboratory-setting
#34
JOURNAL ARTICLE
Seema Panchal, Radhika Mahajan, Navneet Aujla, Paul McKay, Selina Casalino, Vanessa Di Gioacchino, George S Charames, Maude Lefebvre, Kelly A Metcalfe, Mohammad Reza Akbari, Jeanna Marie McCuaig, Jordan Lerner-Ellis
OBJECTIVE: The purpose of this study was to recontact individuals with clinically actionable test results identified through a retrospective research study and to provide a framework for laboratories to recontact patients. METHODS: Genetic testing was conducted on 2977 individuals originally referred for BRCA1 and BRCA2 hereditary breast and ovarian cancer testing that had a negative genetic test result. A gene panel was used to identify pathogenic variants in known or newly discovered genes that could explain the underlying cause of disease; however, analysis was restricted to PALB2 for the purposes of this study...
December 19, 2023: Journal of Medical Genetics
https://read.qxmd.com/read/38123987/germline-testing-of-brca1-brca2-palb2-and-chek2-c-1100delc-in-1514-triple-negative-familial-and-isolated-breast-cancers-from-a-single-centre-with-extended-testing-of-atm-rad51c-and-rad51d-in-over-400
#35
JOURNAL ARTICLE
Emma R Woodward, Fiona Lalloo, Claire Forde, Sarah Pugh, George J Burghel, Helene Schlecht, Elaine F Harkness, Anthony Howell, Sacha J Howell, Ashu Gandhi, D Gareth Evans
BACKGROUND: The identification of germline pathogenic gene variants (PGVs) in triple negative breast cancer (TNBC) is important to inform further primary cancer risk reduction and TNBC treatment strategies. We therefore investigated the contribution of breast cancer associated PGVs to familial and isolated invasive TNBC. METHODS: Outcomes of germline BRCA1 , BRCA2 and CHEK2 _c.1100delC testing were recorded in 1514 women (743-isolated, 771-familial), and for PALB2 in 846 women (541-isolated, 305-familial), with TNBC and smaller numbers for additional genes...
December 16, 2023: Journal of Medical Genetics
https://read.qxmd.com/read/38114467/comprehensive-genomic-profiling-of-breast-cancers-characterizes-germline-somatic-mutation-interactions-mediating-therapeutic-vulnerabilities
#36
JOURNAL ARTICLE
Chao Chen, Cai-Jin Lin, Yu-Chen Pei, Ding Ma, Li Liao, Si-Yuan Li, Lei Fan, Gen-Hong Di, Song-Yang Wu, Xi-Yu Liu, Yun-Jin Wang, Qi Hong, Guo-Liang Zhang, Lin-Lin Xu, Bei-Bei Li, Wei Huang, Jin-Xiu Shi, Yi-Zhou Jiang, Xin Hu, Zhi-Ming Shao
Germline-somatic mutation interactions are universal and associated with tumorigenesis, but their role in breast cancer, especially in non-Caucasians, remains poorly characterized. We performed large-scale prospective targeted sequencing of matched tumor-blood samples from 4079 Chinese females, coupled with detailed clinical annotation, to map interactions between germline and somatic alterations. We discovered 368 pathogenic germline variants and identified 5 breast cancer DNA repair-associated genes (BCDGs; BRCA1/BRCA2/CHEK2/PALB2/TP53)...
December 19, 2023: Cell Discovery
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
#37
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/38098088/prevalence-of-brca1-brca2-and-palb2-genomic-alterations-among-924-taiwanese-breast-cancer-assays-with-tumor-only-targeted-sequencing-extended-data-analysis-from-the-vgh-taylor-study
#38
JOURNAL ARTICLE
Han-Fang Cheng, Yi-Fang Tsai, Chun-Yu Liu, Chih-Yi Hsu, Pei-Ju Lien, Yen-Shu Lin, Ta-Chung Chao, Jiun-I Lai, Chin-Jung Feng, Yen-Jen Chen, Bo-Fang Chen, Jen-Hwey Chiu, Ling-Ming Tseng, Chi-Cheng Huang
BACKGROUND: The homologous recombination (HR) repair pathway for DNA damage, particularly the BRCA1 and BRCA2 genes, has become a target for cancer therapy, with poly ADP-ribose polymerase (PARP) inhibitors showing significant outcomes in treating germline BRCA1/2 (gBRCA1/2) mutated breast cancer. Recent studies suggest that some patients with somatic BRCA1/2 (sBRCA1/2) mutation or mutations in HR-related genes other than BRCA1/2 may benefit from PARP inhibitors as well, particularly those with PALB2 mutations...
December 14, 2023: Breast Cancer Research: BCR
https://read.qxmd.com/read/38091153/clinicopathologic-and-genetic-analysis-of-invasive-breast-carcinomas-in-women-with-germline-chek2-variants
#39
JOURNAL ARTICLE
Christopher J Schwartz, Nikka Khorsandi, Amie Blanco, Rita A Mukhtar, Yunn-Yi Chen, Gregor Krings
PURPOSE: Germline pathogenic variants in checkpoint kinase 2 (CHEK2) are associated with a moderately increased risk of breast cancer (BC). The spectrum of clinicopathologic features and genetics of these tumors has not been fully established. METHODS: We characterized the histopathologic and clinicopathologic features of 44 CHEK2-associated BCs from 35 women, and assessed responses to neoadjuvant chemotherapy. A subset of cases (n = 23) was additionally analyzed using targeted next-generation DNA sequencing (NGS)...
December 13, 2023: Breast Cancer Research and Treatment
https://read.qxmd.com/read/38086003/cost-effectiveness-analysis-of-screening-for-pancreatic-cancer-among-high-risk-populations
#40
JOURNAL ARTICLE
Mary Linton B Peters, Andrew Eckel, Claudia L Seguin, Barak Davidi, David H Howard, Amy B Knudsen, Pari V Pandharipande
PURPOSE: We evaluated the potential cost-effectiveness of combined magnetic resonance imaging (MRI) and endoscopic ultrasound (EUS) screening for pancreatic ductal adenocarcinoma (PDAC) among populations at high risk for the disease. METHODS: We used a microsimulation model of the natural history of PDAC to estimate the lifetime health benefits, costs, and cost-effectiveness of PDAC screening among populations with specific genetic risk factors for PDAC, including BRCA1 and BRCA2 , PALB2 , ATM , Lynch syndrome, TP53 , CDKN2A , and STK11 ...
December 12, 2023: JCO oncology practice
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