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JOURNAL ARTICLE
Meghna S Trivedi, Haley Manley, Haeseung Yi, Thomas Silverman, Wendy K Chung, Paul S Appelbaum, Rebecca Starck, Isaac Schecter, Rita Kukafka, Katherine D Crew
INTRODUCTION: Orthodox Jewish women face unique social, cultural, and religious factors that may influence uptake of BRCA1/2 genetic testing. We examined the impact of a web-based decision aid (DA) on BRCA1/2 genetic testing intention/completion among Orthodox Jewish women. We conducted a single-arm pilot study among 50 Orthodox Jewish women who were given access to a web-based DA entitled RealRisks and administered serial surveys at baseline and 1 and 6 months after exposure to the DA...
April 12, 2024: Familial Cancer
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JOURNAL ARTICLE
D Gareth Evans, George J Burghel, Sacha J Howell, Sarah Pugh, Claire Forde, Anthony Howell, Fiona Lalloo, Emma Roisin Woodward
BACKGROUND: Male breast cancer (MBC) affects around 1 in 1000 men and is known to have a higher underlying component of high and moderate risk gene pathogenic variants (PVs) than female breast cancer, particularly in BRCA2 . However, most studies only report overall detection rates without assessing detailed family history. METHODS: We reviewed germline testing in 204 families including at least one MBC for BRCA1 , BRCA2 , CHEK2 c.1100DelC and an extended panel in 93 of these families...
April 12, 2024: Journal of Medical Genetics
#23
REVIEW
Lauren Gima, Ilana Solomon, Heather Hampel
The field of cancer genetics has evolved significantly over the past 30 years. Genetic testing has become less expensive and more comprehensive which has changed practice patterns. It is no longer necessary to restrict testing to those with the highest likelihood of testing positive. In addition, we have learned that the criteria developed to determine who has the highest likelihood of testing positive are neither sensitive nor specific. As a result, the field is moving from testing only the highest risk patients identified based on testing criteria to testing all cancer patients...
May 2024: Clinics in Colon and Rectal Surgery
#24
JOURNAL ARTICLE
Hadeel Assad, Maria Levitin, Nancie Petrucelli, Mark Manning, Hayley S Thompson, Wei Chen, Hyejeong Jang, Michael S Simon
PURPOSE: Carriers of pathogenic variants in BRCA1/2 have an elevated lifetime cancer risk warranting high-risk screening and risk-reducing procedures for early detection and prevention. We report on prevention practices among women with pathogenic BRCA variants in order to document follow through with NCCN recommendations and to identify barriers to guideline-recommended care. METHODS: Our cohort included women who had genetic testing through a cancer genetic clinic and completed a 54-item questionnaire to measure socio-demographics, medical history, rates of cancer screening and risk-reducing surgery, disclosure of test results, and cancer worry...
April 12, 2024: Breast Cancer Research and Treatment
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JOURNAL ARTICLE
Kristen D Brantley, Shoshana M Rosenberg, Laura C Collins, Kathryn J Ruddy, Rulla M Tamimi, Lidia Schapira, Virginia F Borges, Ellen Warner, Steven E Come, Yue Zheng, Gregory J Kirkner, Craig Snow, Eric P Winer, Ann H Partridge
IMPORTANCE: Among women diagnosed with primary breast cancer (BC) at or younger than age 40 years, prior data suggest that their risk of a second primary BC (SPBC) is higher than that of women who are older when they develop a first primary BC. OBJECTIVE: To estimate cumulative incidence and characterize risk factors of SPBC among young patients with BC. DESIGN, SETTING, AND PARTICIPANTS: Participants were enrolled in the Young Women's Breast Cancer Study, a prospective study of 1297 women aged 40 years or younger who were diagnosed with stage 0 to III BC from August 2006 to June 2015...
April 11, 2024: JAMA Oncology
#26
Y Zhan, B Burkel, E J Leaman, S M Ponik, B Behkam
Bacteria-based cancer therapy (BBCT) strains grow selectively in primary tumors and metastases, colonize solid tumors independent of genetics, and kill cells resistant to standard molecular therapy. Clinical trials of BBCT in solid tumors have not reported any survival advantage yet, partly due to the limited bacterial colonization. Collagen, abundant in primary and metastatic solid tumors, has a well-known role in hindering intratumoral penetration of therapeutics. Nevertheless, the effect of collagen content on the intratumoral penetration and antitumor efficacy of BBCT is rarely unexplored...
March 30, 2024: bioRxiv
#27
Roza Przanowska, Najwa Labban, Piotr Przanowski, Russell Hawes, Kristen Atkins, Shayna Showalter, Kevin Janes
Background Primary luminal breast cancer cells lose their identity rapidly in standard tissue culture, which is problematic for testing hormone interventions and molecular pathways specific to the luminal subtype. Breast cancer organoids are thought to retain tumor characteristics better, but long-term viability of luminal-subtype cases is a persistent challenge. Our goal was to adapt short-term organoids of luminal breast cancer for parallel testing of genetic and pharmacologic perturbations. Methods We freshly isolated patient-derived cells from luminal tumor scrapes, miniaturized the organoid format into 5 microliter replicates for increased throughput, and set an endpoint of 14 days to minimize drift...
March 27, 2024: bioRxiv
#28
JOURNAL ARTICLE
Nurul Wafiqah Saipol Bahrin, Siti Nur Idayu Matusin, Aklimah Mustapa, Lu Zen Huat, Sriyani Perera, Mas Rina Wati Haji Abdul Hamid
BACKGROUND: Breast cancer incidence has been on the rise significantly in the Asian population, occurring at an earlier age and a later stage. The potential predictive value of molecular subtypes, biomarkers, and genetic variations has not been deeply explored in the Asian population. This study evaluated the effect of molecular subtype classification and the presence or absence of biomarkers and genetic variations on pathological complete response (pCR) after neoadjuvant treatment in Asian breast cancer patients...
April 4, 2024: Systematic Reviews
#29
Xia-Bo Shen, Jia-Yi Wu, Jia-Ying Li, Xi-Ying Shao, Xiao-Jia Wang
KEY CLINICAL MESSAGE: In a patient with metastatic breast cancer, an acquired BRCA mutation in the BRCA gene was detected, resulting in benefits from olaparib treatment. This underscores the importance of ongoing genetic phenotype testing after paclitaxel chemotherapy. ABSTRACT: Triple-negative breast cancer (TNBC) is associated with a poor prognosis and elevated mortality risk. BRCA mutations are commonly regarded as prevalent mutations in TNBC patients, strongly associated with congenital familial heredity...
April 2024: Clinical Case Reports
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JOURNAL ARTICLE
Renata L Sandoval, Michele Bottosso, Li Tianyu, Natalia Polidorio, Brittany L Bychkovsky, Benjamin Verret, Alessandra Gennari, Sophie Cahill, Maria Isabel Achatz, Olivier Caron, Marion Imbert-Bouteille, Catherine Noguès, Kara N Mawell, Cristina Fortuno, Amanda B Spurdle, Nabihah Tayob, Fabrice Andre, Judy E Garber
BACKGROUND: A large well-annotated recent international cohort of Li-Fraumeni (LFS) patients with early-stage breast cancer (BC) was examined for shared features. METHODS: This multicentre cohort study included females with a germline TP53 pathogenic or likely pathogenic variant and nonmetastatic BC diagnosed between 2002-2022. Clinical and genetic data were obtained from institutional registries and clinical charts. Descriptive statistics were utilized to summarize proportions and differences were assessed by Chi square or Wilcoxon rank sum tests...
April 3, 2024: Journal of the National Cancer Institute
#31
JOURNAL ARTICLE
Fernanda J Martin, Isabel M Saffie, Mabel A Hurtado, Diana Avila-Jaque, Rodrigo A Lagos, Carolina A Selman, Jonathan Z Huserman, Valentina A Castillo, Badir J Chahuán
PURPOSE: The aim was to assess the diagnostic yield of next generation sequencing (NGS) multi-gene panels for breast and ovarian cancer in a high-complexity cancer centre in Chile. Additionally, our goal was to broaden the genotypic spectrum of BRCA variants already identified in Chilean families. METHODS: Retrospective analysis was conducted on the genetic test results of 722 individuals from Fundación Arturo López Pérez's genetic counselling unit between 2016 and 2021...
2024: Ecancermedicalscience
#32
JOURNAL ARTICLE
Wei Lu, Zhenyu Yang, Mengjie Wang, Shiqi Li, Hui Bi, Xiaonan Yang
BACKGROUND: Breast cancer (BC) remains the most common cancer among women, and novel post-surgical reconstruction techniques, including autologous fat transplantation, have emerged. While Adipose-derived stem cells (ADSCs) are known to impact the viability of fat grafts, their influence on breast cancer progression remains unclear. This study aims to elucidate the genetic interplay between ADSCs and breast cancer, focusing on potential therapeutic targets. METHODS: Using the GEO and TCGA databases, we pinpointed differentially expressed (DE) mRNAs, miRNAs, lncRNAs, and pseudogenes of ADSCs and BC...
April 15, 2024: Heliyon
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JOURNAL ARTICLE
Koumani W Ntowe, Michael S Lee, Jennifer K Plichta
As genetic testing becomes increasingly more accessible and more applicable with a broader range of clinical implications, it may also become more challenging for breast cancer providers to remain up-to-date. This review outlines some of the current clinical guidelines and recent literature surrounding germline genetic testing, as well as genomic testing, in the screening, prevention, diagnosis, and treatment of breast cancer, while identifying potential areas of further research.
April 1, 2024: Journal of Surgical Oncology
#34
JOURNAL ARTICLE
Niaz Mahmood, Ani Arakelian, Moshe Szyf, Shafaat A Rabbani
Methyl-CpG-binding domain protein 2 (Mbd2), a reader of DNA methylation, has been implicated in different types of malignancies, including breast cancer. However, the exact role of Mbd2 in various stages of breast cancer growth and progression in vivo has not been determined. To test whether Mbd2 plays a causal role in mammary tumor growth and metastasis, we performed genetic knockout (KO) of Mbd2 in MMTV-PyMT transgenic mice and compared mammary tumor progression kinetics between the wild-type (PyMT-Mbd2+/+ ) and KO (PyMT-Mbd2-/- ) groups...
April 1, 2024: Experimental & Molecular Medicine
#35
JOURNAL ARTICLE
Petra Zemankova, Marta Cerna, Klara Horackova, Corinna Ernst, Jana Soukupova, Marianna Borecka, Britta Blümcke, Leona Cerna, Monika Cerna, Vaclava Curtisova, Tatana Dolezalova, Petra Duskova, Lenka Dvorakova, Lenka Foretova, Ondrej Havranek, Jan Hauke, Eric Hahnen, Miloslava Hodulova, Milena Hovhannisyan, Lucie Hruskova, Marketa Janatova, Maria Janikova, Sandra Jelinkova, Pavel Just, Marcela Kosarova, Monika Koudova, Vera Krutilkova, Eva Machackova, Katerina Matejkova, Renata Michalovska, Adela Misove, Petr Nehasil, Barbora Nemcova, Jan Novotny, Ales Panczak, Pavel Pesek, Ondrej Scheinost, Drahomira Springer, Barbora Stastna, Viktor Stranecky, Ivan Subrt, Spiros Tavandzis, Eva Tureckova, Kamila Vesela, Zdenka Vlckova, Michal Vocka, Barbara Wappenschmidt, Tomas Zima, Zdenek Kleibl, Petra Kleiblova
Germline CHEK2 pathogenic variants confer an increased risk of female breast cancer (FBC). Here we describe a recurrent germline intronic variant c.1009-118_1009-87delinsC, which showed a splice acceptor shift in RNA analysis, introducing a premature stop codon (p.Tyr337PhefsTer37). The variant was found in 21/10,204 (0.21%) Czech FBC patients compared to 1/3250 (0.03%) controls (p = 0.04) and in 4/3639 (0.11%) FBC patients from an independent German dataset. In addition, we found this variant in 5/2966 (0...
March 25, 2024: Breast: Official Journal of the European Society of Mastology
#36
JOURNAL ARTICLE
Mila Nu Nu Htay, Tin Tin Su, Michael Donnelly
INTRODUCTION: Breast cancer is the commonest cancer among Malaysian women. Current clinical practice guidelines (CPG) by the Ministry of Health, Malaysia comprise recommendations based on a risk stratification approach. AIM: This paper reviewed and reflected on the challenges and uncertainties that needed to be considered regarding the implementation and delivery of risk-stratified breast cancer screening in Malaysia. METHODS: Our iterative writing, discussions and reflections revolved around the results of key relevant literature search from the Ministry of Health Malaysia website, PubMed, and Google Scholar, and on feedback from local clinical experts in the field of breast cancer screening practice...
March 1, 2024: Asian Pacific Journal of Cancer Prevention: APJCP
#37
REVIEW
Aasem Abu Shtaya, Inbal Kedar, Lily Bazak, Lina Basel-Salmon, Sarit Farage Barhom, Michal Naftali, Marina Eskin-Schwartz, Ohad S Birk, Shirley Polager-Modan, Nitzan Keidar, Gili Reznick Levi, Zohar Levi, Tamar Yablonski-Peretz, Ahmad Mahamid, Ori Segol, Reut Matar, Yifat Bareli, Noy Azoulay, Yael Goldberg
POT1 (Protection of Telomeres 1) is a key component of the six-membered shelterin complex that plays a critical role in telomere protection and length regulation. Germline variants in the POT1 gene have been implicated in predisposition to cancer, primarily to melanoma and chronic lymphocytic leukemia (CLL). We report the identification of POT1 p.(I78T), previously ranked with conflicting interpretations of pathogenicity, as a founder pathogenic variant among Ashkenazi Jews (AJs) and describe its unique clinical landscape...
March 13, 2024: Genes
#38
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
#39
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
#40
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
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