keyword
https://read.qxmd.com/read/38544832/brca1-2-alterations-and-reversion-mutations-in-the-area-of-parp-inhibitors-in-high-grade-ovarian-cancer-state-of-the-art-and-forthcoming-challenges
#1
REVIEW
Laetitia Collet, Brunhilde Hanvic, Margherita Turinetto, Isabelle Treilleux, Nicolas Chopin, Olivia Le Saux, Isabelle Ray-Coquard
BRCA1/2 genes are part of homologous recombination (HR) DNA repair pathways in charge of error-free double-strand break (DSB) repair. Loss-of-function mutations of BRCA1/2 genes have been associated for a long time with breast and ovarian cancer hereditary syndrome. Recently, polyadenosine diphosphate-ribose polymerase inhibitors (PARPi) have revolutionized the therapeutic landscape of BRCA1/2 -mutated tumors, especially of BRCA1/2 high-grade serous ovarian cancer (HGSC), taking advantage of HR deficiency through the synthetic lethality concept...
2024: Frontiers in Oncology
https://read.qxmd.com/read/38540206/predictive-value-and-therapeutic-significance-of-somatic-brca-mutation-in-solid-tumors
#2
REVIEW
Gyongyver Szentmartoni, Dorottya Mühl, Renata Csanda, Attila Marcell Szasz, Zoltan Herold, Magdolna Dank
Ten percent of patients with breast cancer, and probably somewhat more in patients with ovarian cancer, have inherited germline DNA mutations in the breast and ovarian cancer genes BRCA1 and BRCA2 . In the remaining cases, the disease is caused by acquired somatic genetic and epigenetic alterations. Targeted therapeutic agents, such as poly ADP-ribose polymerases (PARP) inhibitors (PARPi), have emerged in treating cancers associated with germline BRCA mutations since 2014. The first PARPi was FDA-approved initially for ovarian cancer patients with germline BRCA mutations...
March 6, 2024: Biomedicines
https://read.qxmd.com/read/38539518/-tp53-and-or-brca1-mutations-based-on-ctdna-analysis-as-prognostic-biomarkers-for-primary-triple-negative-breast-cancer
#3
JOURNAL ARTICLE
Akiko Arimura, Kazuko Sakai, Kazuhisa Kaneshiro, Takafumi Morisaki, Saori Hayashi, Kimihisa Mizoguchi, Mai Yamada, Masaya Kai, Mayumi Ono, Kazuto Nishio, Masafumi Nakamura, Makoto Kubo
Precise biomarkers for predicting the therapeutic efficacy of molecularly targeted drugs are limited at the protein level; thus, it has been important to broadly scrutinize individual cancer driver gene mutations for effective cancer treatments. Multiplex cancer genome profiling can comprehensively identify gene mutations that are therapeutic targets using next-generation sequencing (NGS). In addition, circulating tumor DNA (ctDNA) is a DNA fragment released into the blood by tumor cell-derived cell death or apoptosis...
March 18, 2024: Cancers
https://read.qxmd.com/read/38539485/characterization-of-incidental-pathogenic-germline-findings-detected-via-ctdna-among-patients-with-non-small-cell-lung-cancer-in-a-predominantly-hispanic-latinx-population
#4
JOURNAL ARTICLE
Esha Vallabhaneni, Samuel A Kareff, Reagan M Barnett, Leylah M Drusbosky, Shivani Dalal, Luis E Raez, Edgardo S Santos, Federico Albrecht, Mike Cusnir, Estelamari Rodriguez
Pathogenic germline variants (PGVs) may be under-detected as causative etiologies in patients with non-small cell lung cancer (NSCLC). The prevalence of PGVs has been reported between 1 and 15% of patients, depending on the patient population. The rate within Hispanic/Latinx populations remains unknown. We retrospectively analyzed the genomic results (Guardant360, Redwood City, CA, USA) of 878 patients with advanced or metastatic NSCLC at five centers in South Florida, USA, from 2019 to 2022 to analyze the rate of incidental PGVs (iPGVs) identified via circulating cell-free tumor DNA (ctDNA)...
March 14, 2024: Cancers
https://read.qxmd.com/read/38538877/the-brca-mutation-spectrum-among-breast-and-ovarian-cancers-in-india-highlighting-the-need-to-screen-brca1-185delag-among-south-indians
#5
JOURNAL ARTICLE
Ajoy Oommen John, Ashish Singh, Pratibha Yadav, Anjana Joel, Divya Bala Thumaty, K Fibi Ninan, Josh Thomas Georgy, Anish Jacob Cherian, Shawn Thomas, Anitha Thomas, Vinotha Thomas, Abraham Peedicayil, Deny Varghese, R Parthiban, Lavanya Ravichandran, Jabasteen Johnson, Nihal Thomas, Bijesh Yadav, S Patricia, B Selvamani, Deepak Abraham, M J Paul, Raju Titus Chacko, Aaron Chapla
Mutations in BRCA1 and BRCA2 significantly elevate the risk of developing breast and ovarian cancer. Limited data exists regarding the prevalence of BRCA mutations, and optimal, cost-effective testing strategies in developing countries like India. This study aimed to evaluate the utility of a Next Generation Sequencing (NGS) panel for BRCA1/2 mutation testing among women diagnosed with, or at risk of developing hereditary breast and ovarian cancers. We also aimed to identify population specific BRCA1/2 mutation hotspots, to enable the development of more affordable testing strategies...
March 28, 2024: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/38538298/the-comparison-of-effectivity-in-breast-cancer-prevention-between-skin-sparing-and-subcutaneous-mastectomy-20-years-of-experience
#6
JOURNAL ARTICLE
A Berkeš, L Streit, L Dražan, J Veselý, A Bajus, T Kubek, O Šedivý, K Kanuščák, K Feiková, O Strmiska, M Bohušová
INTRODUCTION: Breast cancer is the leading cause of neoplasm mortality among women. Several prevention strategies have been implemented to early detect and prevent the cancer occurrence. The most effective protocol includes prevention mastectomy for the high-risk patients. In our study, we have compared the efficacy of subcutaneous mastectomy (SCM) and skin sparing mastectomy (SSM) in long-term follow up. METHODS: We have included 201 female patients who have been treated at our department over the course of 20 years between 2000 and 2019...
2024: Acta Chirurgiae Plasticae
https://read.qxmd.com/read/38537553/preliminary-insights-on-the-mutational-spectrum-of-brca1-and-brca2-genes-in-pakhtun-ethnicity-breast-cancer-patients-from-khyber-pakhtunkhwa-kp-pakistan
#7
JOURNAL ARTICLE
Hilal Ahmad, Asif Ali, Roshan Ali, Ali Talha Khalil, Ishaq Khan, Mah Muneer Khan, Mohammed Alorini
Gene mutations are a source of genetic instability which fuels the progression of cancer. Mutations in BRCA1 and BRCA2 are considered as major drivers in the progression of breast cancer and their detection indispensable for devising therapeutic and management approaches. The current study aims to identify novel pathogenic and recurrent mutations in BRCA1 and BRCA2 in Pakhtun population from the Khyber Pakhtunkhwa. To determine the BRCA1 and BRCA2 pathogenic mutation prevalence in Pakhtun population from KP, whole exome sequencing of 19 patients along with 6 normal FFPE embedded blocks were performed...
March 26, 2024: Neoplasia: An International Journal for Oncology Research
https://read.qxmd.com/read/38536530/the-paradox-of-mri-for-breast-cancer-screening-high-risk-and-dense-breasts-available-evidence-and-current-practice
#8
REVIEW
Francesco Sardanelli, Veronica Magni, Gabriele Rossini, Fleur Kilburn-Toppin, Nuala A Healy, Fiona J Gilbert
In the mid-1990s, the identification of BRCA1/2 genes for breast cancer susceptibility led to testing breast MRI accuracy in screening women at increased risk. From 2000 onwards, ten intraindividual comparative studies showed the marked superiority of MRI: the sensitivity ranged 25-58% for mammography, 33-52% for ultrasound, 48-67% for mammography plus ultrasound, and 71-100% for MRI; specificity 93-100%, 91-98%, 89-98%, and 81-98%, respectively. Based on the available evidence, in 2006-2007, the UK National Institute for Clinical Excellence and the American Cancer Society recommended MRI screening of high-risk women, followed by other international guidelines...
March 27, 2024: Insights Into Imaging
https://read.qxmd.com/read/38534919/review-on-the-role-of-brca-mutations-in-genomic-screening-and-risk-stratification-of-prostate-cancer
#9
REVIEW
Nikolaos Kalampokis, Christos Zabaftis, Theodoros Spinos, Markos Karavitakis, Ioannis Leotsakos, Ioannis Katafigiotis, Henk van der Poel, Nikolaos Grivas, Dionysios Mitropoulos
(1) Background: Somatic and germline alterations can be commonly found in prostate cancer (PCa) patients. The aim of our present study was to perform a comprehensive review of the current literature in order to examine the impact of BRCA mutations in the context of PCa as well as their significance as genetic biomarkers. (2) Methods: A narrative review of all the available literature was performed. Only "landmark" publications were included. (3) Results: Overall, the number of PCa patients who harbor a BRCA2 mutation range between 1...
February 22, 2024: Current Oncology
https://read.qxmd.com/read/38534178/a-novel-inhibitor-of-poly-adp-r-ibose-polymerase-1-inhibits-proliferation-of-a-brca-deficient-breast-cancer-cell-line-via-the-dna-d-amage-a-ctivated-cgas-sting-pathway
#10
JOURNAL ARTICLE
Yonglong Jin, Lijie Wang, Chengxue Jin, Na Zhang, Shosei Shimizu, Wenjing Xiao, Chuanlong Guo, Xiguang Liu, Hongzong Si
Loss-of-function mutations in the Breast Cancer Susceptibility Gene (BRCA1 and BRCA2) are often detected in patients with breast cancer. Poly(ADP-ribose) polymerase-1 (PARP1) plays a key role in the repair of DNA strand breaks, and PARP inhibitors have been shown to induce highly selective killing of BRCA1/2-deficient tumor cells, a mechanism termed synthetic lethality. In our previous study, a novel PARP1 inhibitor─( E )-2-(2,3-dibromo-4,5-dimethoxybenzylidene)- N -(4-fluorophenyl) hydrazine-1-carbothioamide (4F-DDC)─was synthesized, which significantly inhibited PARP1 activity with an IC50 value of 82 ± 9 nM...
March 27, 2024: Chemical Research in Toxicology
https://read.qxmd.com/read/38530139/fenretinide-in-young-women-at-genetic-or-familial-risk-of-breast-cancer-a-placebo-controlled-biomarker-trial
#11
JOURNAL ARTICLE
Valentina Aristarco, Davide Serrano, Patrick Maisonneuve, Aliana Guerrieri-Gonzaga, Matteo Lazzeroni, Irene Feroce, Debora Macis, Elena Cavadini, Elena Albertazzi, Costantino Jemos, Emanuela Omodeo Salè, Laura Cortesi, Samuele Massarut, Marcella Gulisano, Maria Grazia Daidone, Harriet Johansson, Bernardo Bonanni
Fenretinide, a retinoid with a low toxicity profile that accumulates in the breast, has been shown to prevent second breast cancer in young women. Fenretinide exhibits apoptotic and anti-invasive properties and it improves insulin sensitivity in overweight premenopausal women with insulin resistance. The present study aimed to further characterize its role in cancer prevention by measuring circulating biomarkers related to insulin sensitivity and breast cancer risk. Sixty-two women, aged 20 to 46 years, healthy or who had already undergone breast cancer surgery, with a known BRCA1/2 mutation or a likelihood of mutation ≥ 20% according to the BRCAPRO model, were randomly assigned to receive fenretinide (200 mg/day) or placebo for 5 years (trial registration: EudraCT Number: 2009-010260-41)...
March 26, 2024: Cancer Prevention Research
https://read.qxmd.com/read/38524651/a-case-of-hereditary-breast-and-ovarian-cancer-syndrome-of-initially-presented-as-cancer-of-unknown-primary-with-lymph-node-metastases-unveiled-by-genetic-analysis
#12
JOURNAL ARTICLE
Juri Yamada, Koji Fukuda, Tae Sugawara, Kenichi Makino, Kazuhiro Shimazu, Taichi Yoshida, Daiki Taguchi, Hanae Shinozaki, Yukihiro Terada, Hiroshi Nanjo, Hiroyuki Shibata
Cancer of unknown primary (CUP) is a heterogeneous disease concept involving various malignant tumors. Understanding its pathophysiology is often difficult, together with its treatment. Here, we present a case of CUP with abdominal lymph node enlargement and elevated carbohydrate antigen 125 levels. It initially resembled a favorable prognosis type similar to ovarian cancer, but metastases were observed in cervical lymph nodes, indicating a somewhat atypical CUP compared to the typical ovarian cancer-like CUP...
April 2024: International cancer conference journal
https://read.qxmd.com/read/38520597/germline-pathogenic-variants-associated-with-triple-negative-breast-cancer-in-us-hispanic-and-guatemalan-women-using-hospital-and-community-based-recruitment-strategies
#13
JOURNAL ARTICLE
Jesica M Godinez Paredes, Isabel Rodriguez, Megan Ren, Anali Orozco, Jeremy Ortiz, Anaseidy Albanez, Catherine Jones, Zeina Nahleh, Lilian Barreda, Lisa Garland, Edmundo Torres-Gonzalez, Dongjing Wu, Wen Luo, Jia Liu, Victor Argueta, Roberto Orozco, Eduardo Gharzouzi, Michael Dean
PURPOSE: Recruit and sequence breast cancer subjects in Guatemalan and US Hispanic populations. Identify optimum strategies to recruit Latin American and Hispanic women into genetic studies of breast cancer. METHODS: We used targeted gene sequencing to identify pathogenic variants in 19 familial breast cancer susceptibility genes in DNA from unselected Hispanic breast cancer cases in the US and Guatemala. Recruitment across the US was achieved through community-based strategies...
March 23, 2024: Breast Cancer Research and Treatment
https://read.qxmd.com/read/38519644/identification-of-potentially-actionable-genetic-variants-in-epithelial-ovarian-cancer-a-retrospective-cohort-study
#14
JOURNAL ARTICLE
Charlotte Fieuws, Joni Van der Meulen, Kristiaan Proesmans, Emiel A De Jaeghere, Siebe Loontiens, Jo Van Dorpe, Philippe Tummers, Hannelore Denys, Koen Van de Vijver, Kathleen B M Claes
Ovarian cancer is the most lethal gynecologic malignancy, mainly due to late-stage diagnosis, frequent recurrences, and eventually therapy resistance. To identify potentially actionable genetic variants, sequencing data of 351 Belgian ovarian cancer patients were retrospectively captured from electronic health records. The cohort included 286 (81%) patients with high-grade serous ovarian cancer, 17 (5%) with low-grade serous ovarian cancer, and 48 (14%) with other histotypes. Firstly, an overview of the prevalence and spectrum of the BRCA1/2 variants highlighted germline variants in 4% (11/250) and somatic variants in 11% (37/348) of patients...
March 22, 2024: NPJ Precision Oncology
https://read.qxmd.com/read/38518977/non-sclerosing-t-cell-and-sclerosing-b-cell-lymphocytic-lobulitis-in-diagnostic-breast-biopsies-clinical-imaging-and-pathologic-features
#15
JOURNAL ARTICLE
Marie-Helene Ngo, Geraldine S Pinkus, Eren D Yeh, Jane E Brock, Stephanie Schulte, Susan C Lester
Lymphocytic lobulitis (LL) is characterized by prominent lymphocytic infiltrates centered on lobules. Sclerosing lymphocytic lobulitis (SCLL) associated with diabetes mellitus (DM) or autoimmune disease (AI) was the first type to be described. Subsequently, non-sclerosing LL (NSCLL) was reported as an incidental finding in prophylactic mastectomies due to high risk germline mutations or a family history of breast cancer. The two types of LL were distinguished by stromal features and a predominant population of B-cells in the former and T-cells in the latter...
March 20, 2024: Human Pathology
https://read.qxmd.com/read/38515142/expression-and-splicing-based-multi-tissue-transcriptome-wide-association-studies-identified-multiple-genes-for-breast-cancer-by-estrogen-receptor-status
#16
JOURNAL ARTICLE
Julian C McClellan, James L Li, Guimin Gao, Dezheng Huo
BACKGROUND: Although several transcriptome-wide association studies (TWASs) have been performed to identify genes associated with overall breast cancer (BC) risk, only a few TWAS have explored the differences in estrogen receptor-positive (ER+) and estrogen receptor-negative (ER-) breast cancer. Additionally, these studies were based on gene expression prediction models trained primarily in breast tissue, and they did not account for alternative splicing of genes. METHODS: In this study, we utilized two approaches to perform multi-tissue TWASs of breast cancer by ER subtype: (1) an expression-based TWAS that combined TWAS signals for each gene across multiple tissues and (2) a splicing-based TWAS that combined TWAS signals of all excised introns for each gene across tissues...
March 21, 2024: Breast Cancer Research: BCR
https://read.qxmd.com/read/38513456/predictors-of-knowledge-and-knowledge-gain-after-decision-aid-use-among-women-with-brca1-2-pathogenic-variants
#17
JOURNAL ARTICLE
Zoë Lautz, Sibylle Kautz-Freimuth, Arim Shukri, Marcus Redaèlli, Kerstin Rhiem, Rita Schmutzler, Stephanie Stock
OBJECTIVE: To identify factors contributing to baseline knowledge in women with BRCA1/2 pathogenic variants (PVs) and knowledge gain after decision aid (DA) use. METHODS: Women with PVs in BRCA1 or BRCA2 genes were randomly assigned to an intervention group (IG) receiving DAs or a control group (CG). Of the total sample, 417 completed the baseline survey and were included in this analysis. Two multiple regression analyses were conducted: baseline data on socio-demographic, medical, decision-related and psychological variables were used to identify predictors for (1) baseline knowledge within the total group and (2) knowledge gain within the IG after DA use three months post study inclusion...
March 11, 2024: Patient Education and Counseling
https://read.qxmd.com/read/38512353/genetically-driven-predisposition-leads-to-an-unusually-genomic-unstable-renal-cell-carcinoma
#18
JOURNAL ARTICLE
Manuel Scimeca, Valentina Rovella, Sabrina Caporali, Yufang Shi, Julia Bischof, Jonathan Woodsmith, Giuseppe Tisone, Giuseppe Sica, Ivano Amelio, Gerry Melino, Alessandro Mauriello, Pierluigi Bove
Renal cell carcinoma originates from the lining of the proximal convoluted renal tubule and represents the most common type of kidney cancer. Risk factors and comorbidities might be associated to renal cell carcinoma, while a small fraction of 2-3% emerges from patients with predisposing cancer syndromes, typically associated to hereditary mutations in VHL, folliculin, fumarate hydratase or MET genes. Here, we report a case of renal cell carcinoma in patient with concurrent germline mutations in BRCA1 and RAD51 genes...
March 21, 2024: Discover. Oncology
https://read.qxmd.com/read/38512229/parp-inhibitors-for-breast-cancer-treatment-a-review
#19
JOURNAL ARTICLE
Stefania Morganti, Antonio Marra, Carmine De Angelis, Angela Toss, Luca Licata, Federica Giugliano, Beatrice Taurelli Salimbeni, Pier Paolo Maria Berton Giachetti, Angela Esposito, Antonio Giordano, Giampaolo Bianchini, Judy E Garber, Giuseppe Curigliano, Filipa Lynce, Carmen Criscitiello
IMPORTANCE: Poly(adenosine diphosphate-ribose) polymerase (PARP) inhibitors have revolutionized the treatment of patients with germline BRCA1/2-associated breast cancer, representing the first targeted therapy capable of improving outcomes in patients with hereditary tumors. However, resistance to PARP inhibitors occurs in almost all patients. OBSERVATIONS: This narrative review summarizes the biological rationale behind the use of PARP inhibitors in breast cancer, as well as the available evidence, recent progress, and potential future applications of these agents...
March 21, 2024: JAMA Oncology
https://read.qxmd.com/read/38509102/characteristics-of-germline-dna-damage-response-gene-mutations-in-ovarian-cancer-in-southwest-china
#20
JOURNAL ARTICLE
Kaiyu Fu, Qingli Li, Jie Wang, Mengpei Zhang, Xinyu Yan, Kemin Li, Liang Song, Lan Zhong, Yu Ma, Jinghong Chen, Jing Zeng, Danqing Wang, Di Shao, Shida Zhu, Rutie Yin
DNA damage response (DDR) pathways are responsible for repairing endogenous or exogenous DNA damage to maintain the stability of the cellular genome, including homologous recombination repair (HRR) pathway, mismatch repair (MMR) pathway, etc. In ovarian cancer, current studies are focused on HRR genes, especially BRCA1/2, and the results show regional and population differences. To characterize germline mutations in DDR genes in ovarian cancer in Southwest China, 432 unselected ovarian cancer patients underwent multi-gene panel testing from October 2016 to October 2020...
March 20, 2024: Scientific Reports
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