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JOURNAL ARTICLE
T Schlaiss, L Bott, S-L Herbert, C Bartmann, M Kiesel, J Salmen, S T Sauer, S A Christner, B Petritsch, J-P Grunz, A Woeckel, S Löb, J Diessner
PURPOSE: Isolated locoregional recurrence of breast cancer (ILRR) and contralateral breast cancer (CBC) affect up to 20% of all breast cancer (BC) patients in the first 20 years after primary diagnosis. Treatment options comprise surgical interventions and further systemic therapies depending on the histological subtype. Patients with hereditary breast or ovarian cancer (HBOC) undergo MRI, mammography, and ultrasound in the aftercare of BC, while non-HBOC (nHBOC) patients do not regularly receive MRI...
April 17, 2024: Journal of Cancer Research and Clinical Oncology
#2
JOURNAL ARTICLE
Summer C Martin, Allison M Scott, Anne M Stone
Inheriting a pathogenic variant in the BRCA1 or BRCA2 gene considerably increases a woman's risk levels for developing breast and ovarian cancer. In addition to serious physical health implications, women with a BRCA pathogenic variant may face psychosocial challenges, including those related to navigating the often demanding process of communicating about topics regarding BRCA with family and other social network members. Based on in-depth interviews with 24 women who tested BRCA-positive, we found that-consistent with the conceptualization of communication work articulated by Donovan-Kicken et al...
April 16, 2024: Journal of Genetic Counseling
#3
JOURNAL ARTICLE
Jin Ju Kim, Dong Ja Kim, Eon Jeong Nam, Kyung Eun Song, Ji Yeon Ham, Yu Kyung Kim, Nan Young Lee
BACKGROUND: Hereditary breast/ovarian cancer is associated with BRCA gene mutations. As large volumes of clinical data on BRCA variants are continuously updated, their clinical interpretation may change, leading to their reclassification. This study analyzed the class and proportion of the changed clinical interpretations of BRCA variants to validate the need for periodic reviews of these variants. METHODS: This retrospective study reinterpreted previously reported BRCA1 and BRCA2 exon variants according to the 2015 American College of Medical Genetics and Genomics guidelines and the clinical significance of the recent public genomic database...
April 1, 2024: Clinical Laboratory
#4
JOURNAL ARTICLE
Shayan M Dioun, Luiza R Perez, Malavika Prabhu, Jesse T Brewer, Muhammad D Ahsan, June Y Hou, Ravi N Sharaf, Jason D Wright, Melissa K Frey
BACKGROUND: Improved technologies paired with an increase in access to genetic testing has led to the availability of expanded carrier screening evaluating hundreds of disorders. Currently, most autosomal dominant mutations, such as BRCA1, are not included in expanded carrier assays. Screening pregnant or preconception reproductive-aged women for BRCA1 may present a unique opportunity to perform population-based screening for patients at a time where precancer screening, chemoprevention and/or risk reducing surgery may be beneficial...
April 13, 2024: American Journal of Obstetrics and Gynecology
#5
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
#6
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
#7
JOURNAL ARTICLE
Tokiwa Motonari, Yuki Yoshino, Moe Haruta, Shino Endo, Shota Sasaki, Minoru Miyashita, Hiroshi Tada, Gou Watanabe, Toshiro Kaneko, Takanori Ishida, Natsuko Chiba
Homologous recombination (HR) repairs DNA damage including DNA double-stranded breaks and alterations in HR-related genes results in HR deficiency. Germline alteration of HR-related genes, such as BRCA1 and BRCA2, causes hereditary breast and ovarian cancer (HBOC). Cancer cells with HR deficiency are sensitive to poly (ADP-ribose) polymerase (PARP) inhibitors and DNA-damaging agents. Thus, accurately evaluating HR activity is useful for diagnosing HBOC and predicting the therapeutic effects of anti-cancer agents...
April 8, 2024: Scientific Reports
#8
JOURNAL ARTICLE
Celia Diez de Los Rios de la Serna, Maria Teresa Lluch-Canut, Maria Paz Fernández-Ortega
OBJECTIVES: There is limited evidence on health promotion interventions in people with hereditary cancer syndromes or on their main sources of support and information. This study aimed to understand these patients' experiences and needs, including their information needs, their views on prevention and mental health, and the support they want from nurses. METHODS: This qualitative study included 22 people (8 previvors and 14 survivors) with hereditary breast and ovarian syndrome or Lynch syndrome from 10 European countries...
April 3, 2024: Seminars in Oncology Nursing
#9
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
#10
REVIEW
Miki Yoshida, Tsukasa Saida, Toshitaka Ishiguro, Masafumi Sakai, Saki Shibuki, Shun Kagaya, Yoshiki Fujihara, Kensaku Mori, Toyomi Satoh, Takahito Nakajima
This review aims to provide an overview of neoplastic lesions associated with genetic diseases affecting the female reproductive organs. It seeks to enhance our understanding of the radiological aspects in diagnosing genetic diseases including hereditary breast and ovarian cancer syndromes, Lynch syndrome, Peutz-Jeghers syndrome, nevoid basal cell carcinoma syndrome, and Swyer syndrome, and explores the patterns and mechanisms of inheritance that require elucidation. Additionally, we discuss the imaging characteristics of lesions occurring in other regions due to the same genetic diseases...
March 28, 2024: Abdominal Radiology
#11
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
#12
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
#13
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
#14
JOURNAL ARTICLE
Atsushi Fusegi, Hidetaka Nomura, Arisa Ueki, Akiko Abe, Mayumi Kamata, Satoki Misaka, Yoichi Aoki, Terumi Tanigawa, Mayu Yunokawa, Hiroyuki Kanao
AIM: Ovarian surveillance in women with hereditary breast and ovarian cancer who do not undergo risk-reducing salpingo-oophorectomy has been controversial. Therefore, this study aimed to demonstrate the clinical features of ovarian surveillance at our institution using a technique that combines serum cancer antigen 125 measurements, transvaginal ultrasonography, and uterine endometrial cytology. METHODS: We retrospectively examined 65 women, who had not undergone risk-reducing salpingo-oophorectomy diagnosed with hereditary breast and ovarian cancer between 2000 and 2021 at our hospital...
March 25, 2024: Journal of Obstetrics and Gynaecology Research
#15
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
#16
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
#17
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
#18
REVIEW
Andreza Amália de Freitas Ribeiro, Nilson Moreira Cipriano Junior, Luciana Lara Dos Santos
BACKGROUND: A detailed understanding of the genetic basis of cancer is of great interest to public health monitoring programs. Although many studies have been conducted in Brazil, a global view on the molecular profile related to hereditary breast and ovarian cancer (HBOC) in this large and heterogeneous population is lacking. METHODS: A systematic review following the PRISMA guidelines was conducted in three electronic databases (PubMed, BIREME and SciELO). Brazilian studies covering molecular analysis of genes related to HBOC, published until December 2023, were considered...
March 20, 2024: European Journal of Medical Research
#19
JOURNAL ARTICLE
Natalia Campacci, Rebeca Silveira Grasel, Henrique de Campos Reis Galvão, Lucas França Garcia, Paula Carvalho Ribeiro, Kercy Fram de Jesus de Sena Pereira, José Roberto Goldim, Patricia Ashton-Prolla, Edenir Inêz Palmero
INTRODUCTION: Cancer Genetic Counseling (CGC) and genetic testing (GT) assume a paramount role for hereditary cancer predisposition syndrome families. We assessed the effects of CGC and GT on women affected by cancer who are at risk for hereditary breast and ovarian cancer predisposition syndrome (HBOC). METHODS: This study encompasses four time points: before the CGC session, after the CGC session when blood is drawn for GT, after disclosure of GT results, and six months following disclosure of GT results...
2024: Frontiers in Psychology
#20
JOURNAL ARTICLE
Kinuko Ohneda
Return of individual genomic results(ROGR)to participants in population-based biobank has been rarely conducted in research settings, and the procedure of ROGR performed in foreign countries may not be simply applied to Japanese participants, because of the difference in social background. The Tohoku Medical Megabank Project, which was launched in 2012 aiming to build a foundation of personalized genomic medicine, obtained the consent from research participants by explaining the future possibility of ROGR. After careful consideration of appropriate procedure for ROGR, individual genomic results were returned to 111 pathogenic variant(PV)carriers of hereditary breast and ovarian cancer syndrome(HBOC)or Lynch syndrome(LS)based on 50,000 whole genome sequencing(WGS)data in FY 2022...
March 2024: Gan to Kagaku Ryoho. Cancer & Chemotherapy
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