keyword
MENU ▼
Read by QxMD icon Read
search

Brca2

keyword
https://www.readbyqxmd.com/read/29240602/unclassified-variants-of-brca1-and-brca2-in-korean-patients-with-ovarian-cancer
#1
Min Chul Choi, Ja-Hyun Jang, Sang Geun Jung, Hyun Park, Won Duk Joo, Seung Hun Song, Chan Lee, Je Ho Lee
OBJECTIVE: The aim of the present study was to investigate unclassified variants (UVs) in BRCA1 and 2 of Korean patients with ovarian cancer. METHODS: We retrospectively analyzed 138 patients diagnosed with ovarian/fallopian tubal/peritoneal cancer between January 2013 and January 2016, whose BRCA genetic test results and clinical characteristics were available for review. Patient peripheral blood lymphocyte specimens were assessed for BRCA mutations and variations by direct sequencing...
December 13, 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/29240257/altered-expression-of-telomere-associated-genes-in-leukocytes-among-brca1-and-brca2-carriers
#2
Hiromi Tanaka, Elizabeth A Phipps, Ting Wei, Xi Wu, Chirayu Goswami, Yunlong Liu, George W Sledge, Lida Mina, Brittney-Shea Herbert
Telomere dysfunction resulting from telomere shortening and deregulation of shelterin components has been linked to the pathogenesis of age-related disorders, including cancer. Recent evidence suggests that BRCA1/2 (BRCA1 and BRCA2) tumor suppressor gene products play an important role in telomere maintenance. Although telomere shortening has been reported in BRCA1/2 carriers, the direct effects of BRCA1/2 haploinsufficiency on telomere maintenance and predisposition to cancer development are not completely understood...
December 14, 2017: Molecular Carcinogenesis
https://www.readbyqxmd.com/read/29238749/a-feasibility-study-of-neoadjuvant-talazoparib-for-operable-breast-cancer-patients-with-a-germline-brca-mutation-demonstrates-marked-activity
#3
J K Litton, M Scoggins, D L Ramirez, R K Murthy, G J Whitman, K R Hess, B E Adrada, S L Moulder, C H Barcenas, V Valero, J Schwartz Gomez, E A Mittendorf, A Thompson, T Helgason, G B Mills, H Piwnica-Worms, B K Arun
This study was undertaken to determine the feasibility of enrolling breast cancer patients on a single-agent-targeted therapy trial before neoadjuvant chemotherapy. Specifically, we evaluated talazoparib in patients harboring a deleterious BRCA mutation (BRCA+). Patients with a germline BRCA mutation and ≥1 cm, HER2-negative primary tumors were eligible. Study participants underwent a pretreatment biopsy, 2 months of talazoparib, off-study core biopsy, anthracycline, and taxane-based chemotherapy ± carboplatin, followed by surgery...
2017: NPJ Breast Cancer
https://www.readbyqxmd.com/read/29236593/role-of-genetic-testing-for-inherited-prostate-cancer-risk-philadelphia-prostate-cancer-consensus-conference-2017
#4
Veda N Giri, Karen E Knudsen, William K Kelly, Wassim Abida, Gerald L Andriole, Chris H Bangma, Justin E Bekelman, Mitchell C Benson, Amie Blanco, Arthur Burnett, William J Catalona, Kathleen A Cooney, Matthew Cooperberg, David E Crawford, Robert B Den, Adam P Dicker, Scott Eggener, Neil Fleshner, Matthew L Freedman, Freddie C Hamdy, Jean Hoffman-Censits, Mark D Hurwitz, Colette Hyatt, William B Isaacs, Christopher J Kane, Philip Kantoff, R Jeffrey Karnes, Lawrence I Karsh, Eric A Klein, Daniel W Lin, Kevin R Loughlin, Grace Lu-Yao, S Bruce Malkowicz, Mark J Mann, James R Mark, Peter A McCue, Martin M Miner, Todd Morgan, Judd W Moul, Ronald E Myers, Sarah M Nielsen, Elias Obeid, Christian P Pavlovich, Stephen C Peiper, David F Penson, Daniel Petrylak, Curtis A Pettaway, Robert Pilarski, Peter A Pinto, Wendy Poage, Ganesh V Raj, Timothy R Rebbeck, Mark E Robson, Matt T Rosenberg, Howard Sandler, Oliver Sartor, Edward Schaeffer, Gordon F Schwartz, Mark S Shahin, Neal D Shore, Brian Shuch, Howard R Soule, Scott A Tomlins, Edouard J Trabulsi, Robert Uzzo, Donald J Vander Griend, Patrick C Walsh, Carol J Weil, Richard Wender, Leonard G Gomella
Purpose Guidelines are limited for genetic testing for prostate cancer (PCA). The goal of this conference was to develop an expert consensus-driven working framework for comprehensive genetic evaluation of inherited PCA in the multigene testing era addressing genetic counseling, testing, and genetically informed management. Methods An expert consensus conference was convened including key stakeholders to address genetic counseling and testing, PCA screening, and management informed by evidence review. Results Consensus was strong that patients should engage in shared decision making for genetic testing...
December 13, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29236234/assessment-of-the-functional-impact-of-germline-brca1-2-variants-located-in-non-coding-regions-in-families-with-breast-and-or-ovarian-cancer-predisposition
#5
E Santana Dos Santos, S M Caputo, L Castera, M Gendrot, A Briaux, M Breault, S Krieger, P K Rogan, E J Mucaki, L J Burke, I Bièche, C Houdayer, D Vaur, D Stoppa-Lyonnet, M A Brown, F Lallemand, E Rouleau
PURPOSE: The molecular mechanism of breast and/or ovarian cancer susceptibility remains unclear in the majority of patients. While germline mutations in the regulatory non-coding regions of BRCA1 and BRCA2 genes have been described, screening has generally been limited to coding regions. The aim of this study was to evaluate the contribution of BRCA1/2 non-coding variants. METHODS: Four BRCA1/2 non-coding regions were screened using high-resolution melting analysis/Sanger sequencing or next-generation sequencing on DNA extracted from index cases with breast and ovarian cancer predisposition (3926 for BRCA1 and 3910 for BRCA2)...
December 13, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29233531/genomic-landscape-of-ovarian-clear-cell-carcinoma-via-whole-exome-sequencing
#6
Se Ik Kim, Ji Won Lee, Maria Lee, Hee Seung Kim, Hyun Hoon Chung, Jae-Weon Kim, Noh Hyun Park, Yong-Sang Song, Jeong-Sun Seo
OBJECTIVE: To analyze whole exome sequencing (WES) data on ovarian clear cell carcinoma (OCCC) in Korean patients via the technique of next generation sequencing (NGS). Genomic profiles were compared between endometriosis-associated OCCC (EMS-OCCC) and Non-EMS-OCCC. METHODS: We used serum samples and cancer tissues, stored at the Seoul National University Hospital Human Biobank, that were initially collected from women diagnosed with OCCC between 2012 and 2016. In total, 15 patients were enrolled: 5 with pathologically confirmed EMS-OCCC and 10 with Non-EMS-OCCC...
December 9, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/29229995/lysyl-oxidase-like-3-is-required-for-melanoma-cell-survival-by-maintaining-genomic-stability
#7
Patricia G Santamaría, Alfredo Floristán, Bárbara Fontanals-Cirera, Alberto Vázquez-Naharro, Vanesa Santos, Saleta Morales, Lourdes Yuste, Héctor Peinado, Antonio García-Gómez, Francisco Portillo, Eva Hernando, Amparo Cano
Lysyl oxidase-like 3 (LOXL3) is a member of the lysyl oxidase family comprising multifunctional enzymes with depicted roles in extracellular matrix maturation, tumorigenesis, and metastasis. In silico expression analyses followed by experimental validation in a comprehensive cohort of human cell lines revealed a significant upregulation of LOXL3 in human melanoma. We show that LOXL3 silencing impairs cell proliferation and triggers apoptosis in various melanoma cell lines. Further supporting a pro-oncogenic role in melanoma, LOXL3 favors tumor growth in vivo and cooperates with oncogenic BRAF in melanocyte transformation...
December 11, 2017: Cell Death and Differentiation
https://www.readbyqxmd.com/read/29225062/systematic-review-of-the-empirical-investigation-of-resources-to-support-decision-making-regarding-brca1-and-brca2-genetic-testing-in-women-with-breast-cancer
#8
REVIEW
Chloe Grimmett, Karen Pickett, Jonathan Shepherd, Karen Welch, Alejandra Recio-Saucedo, Elke Streit, Helen Seers, Anne Armstrong, Ramsey I Cutress, D Gareth Evans, Ellen Copson, Bettina Meiser, Diana Eccles, Claire Foster
OBJECTIVE: Identify existing resources developed and/or evaluated empirically in the published literature designed to support women with breast cancer making decisions regarding genetic testing for BRCA1/2 mutations. METHODS: Systematic review of seven electronic databases. Studies were included if they described or evaluated resources that were designed to support women with breast cancer in making a decision to have genetic counselling or testing for familial breast cancer...
November 26, 2017: Patient Education and Counseling
https://www.readbyqxmd.com/read/29223478/phase-ii-trial-of-veliparib-in-patients-with-previously-treated-brca-mutated-pancreas-ductal-adenocarcinoma
#9
Maeve A Lowery, David P Kelsen, Marinela Capanu, Sloane C Smith, Jonathan W Lee, Zsofia K Stadler, Malcolm J Moore, Hedy L Kindler, Talia Golan, Amiel Segal, Hannah Maynard, Ellen Hollywood, MaryEllen Moynahan, Erin E Salo-Mullen, Richard Kinh Gian Do, Alice P Chen, Kenneth H Yu, Laura H Tang, Eileen M O'Reilly
PURPOSE: BRCA-associated cancers have increased sensitivity to poly(ADP-ribose) polymerase inhibitors (PARPis). This single arm, non-randomised, multicentre phase II trial evaluated the response rate of veliparib in patients with previously treated BRCA1/2- or PALB2-mutant pancreatic adenocarcinoma (PDAC). METHODS: Patients with stage III/IV PDAC and known germline BRCA1/2 or PALB2 mutation, 1-2 lines of treatment, Eastern Cooperative Oncology Group 0-2, were enrolled...
December 7, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/29220651/replication-fork-reversal-players-and-guardians
#10
REVIEW
Annabel Quinet, Delphine Lemaçon, Alessandro Vindigni
Replication fork reversal is a rapidly emerging and remarkably frequent mechanism of fork stabilization in response to genotoxic insults. Here, we summarize recent findings that uncover key molecular determinants for reversed fork formation and describe how the homologous recombination factors BRCA1, BRCA2, and RAD51 protect these structures from extended nucleolytic degradation.
December 7, 2017: Molecular Cell
https://www.readbyqxmd.com/read/29215764/an-evaluation-of-the-challenges-to-developing-tumour-brca1-and-brca2-testing-methodologies-for-clinical-practice
#11
Gillian Ellison, Miika Ahdesmäki, Sally Luke, Paul M Waring, Andrew Wallace, Ronnie Wright, Benno Röthlisberger, Katja Ludin, Sabine Merkelbach-Bruse, Carina Heydt, Marjolijn J L Ligtenberg, Arjen R Mensenkamp, David Gonzalez Castro, Thomas Jones, Ana Vivancos, Olga Kondrashova, Patrick Pauwels, Christine Weyn, Eric Hahnen, Jan Hauke, Richie Soong, Zhongwu Lai, Brian Dougherty, T Hedley Carr, Justin Johnson, John Mills, J Carl Barrett
Ovarian cancer patients with germline or somatic pathogenic variants benefit from treatment with PARP inhibitors. Tumour BRCA1/2 testing is more challenging than germline testing as the majority of samples are formalin fixed paraffin embedded (FFPE), the tumour genome is complex and the allelic fraction of somatic variants can be low. We collaborated with 10 laboratories testing BRCA1/2 in tumours to compare different approaches to identify clinically important variants within FFPE tumour DNA samples. This was not a proficiency study but an inter-laboratory comparison to identify common issues...
December 7, 2017: Human Mutation
https://www.readbyqxmd.com/read/29215753/combined-annotation-dependent-depletion-cadd-score-for-brca1-2-variants-in-patients-with-breast-and-or-ovarian-cancer
#12
Hiroshi Nakagomi, Hitoshi Mochizuki, Masayuki Inoue, Yosuke Hirotsu, Kenji Amemiya, Ikuko Sakamoto, Satoko Nakagomi, Takeo Kubota, Masao Omata
The utility of Combined Annotation Dependent Depletion (CADD) Score was recently reported to rank the pathogenicity as C-scores ranging 1 to 99 for both convinced deleterious mutations and missense mutations. Using C-scores for BRCA1/2 variants, we tried to constitute the classification system for Variant of Uncertain Significance (VUS), which had been major problem of genetic testing for Hereditary Breast and/or Ovarian Cancer (HBOC). We analyzed BRCA1/2 genes for 283 patients with breast and/or ovarian cancer...
December 7, 2017: Cancer Science
https://www.readbyqxmd.com/read/29209986/data-on-single-nucleotide-polymorphism-of-dna-repair-genes-and-breast-cancer-risk-from-poland
#13
Beata Smolarz, Magdalena Bryś, Ewa Forma, Marek Zadrożny, Jan Bieńkiewicz, Hanna Romanowicz
Single nucleotide polymorphisms (SNPs) may modify the risk of cancer. They may be then regarded as potential markers of carcinogenesis. The aim of this study was to analyze the frequency of genotypes and alleles of SNPs in DNA repair genes and to investigate the influence this genetic variation exerts on breast cancer in Polish females. The test group comprised 600 females with breast cancer and 600 healthy controls. Genomic DNA was isolated and the SNPs in DNA repair genes were determined by High-Resolution Melter (HRM) technique...
December 5, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/29207078/characterizing-key-nucleotide-polymorphisms-of-hepatitis-c-virus-disease-associations-via-mass-spectrometric-genotyping
#14
Yuta Horiuchi, Jason Lin, Yui Shinojima, Kyoko Fujiwara, Mitsuhiko Moriyama, Hiroki Nagase
As more than 80% of hepatocellular carcinoma patients in Japan also suffer from hepatitis C virus infections some time in their medical history, identifying genetic aberrations associated to hepatitis C virulence in these individuals remains a high priority in the diagnosis and treatment of hepatocellular carcinoma. From the BioBank Japan Project, we acquired 480 subjects of hepatocellular carcinoma, chronic hepatitis and liver cirrhosis, and genotyped 131 clinically relevant host single nucleotide polymorphisms to survey the potential association between certain risk alleles and genes to a patient's predisposition to hepatitis C and liver cancer...
November 22, 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/29206995/concordance-of-circulating-tumor-dna-and-matched-metastatic-tissue-biopsy-in-prostate-cancer
#15
Alexander W Wyatt, Matti Annala, Rahul Aggarwal, Kevin Beja, Felix Feng, Jack Youngren, Adam Foye, Paul Lloyd, Matti Nykter, Tomasz M Beer, Joshi J Alumkal, George V Thomas, Robert E Reiter, Matthew B Rettig, Christopher P Evans, Allen C Gao, Kim N Chi, Eric J Small, Martin E Gleave
Background: Real-time knowledge of the somatic genome can influence management of patients with metastatic castration-resistant prostate cancer (mCRPC). While routine metastatic tissue biopsy is challenging in mCRPC, plasma circulating tumor DNA (ctDNA) has emerged as a minimally invasive tool to sample the tumor genome. However, no systematic comparisons of matched "liquid" and "solid" biopsies have been performed that would enable ctDNA profiling to replace the need for direct tissue sampling...
December 1, 2017: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29206279/the-risk-of-breast-cancer-in-brca1-and-brca2-mutation-carriers-without-a-first-degree-relative-with-breast-cancer
#16
K A Metcalfe, J Lubinski, J Gronwald, T Huzarski, J McCuaig, H T Lynch, B Karlan, W D Foulkes, C F Singer, S L Neuhausen, L Senter, A Eisen, P Sun, S A Narod
The objective of this study was to estimate the lifetime risk of breast cancer in women with a BRCA1 or BRCA2 mutation with and without at least one first-degree relative with breast cancer. A total of 2835 women with a BRCA1 or BRCA2 mutation were followed. Age- and gene-specific breast cancer rates were calculated. The relative risks of breast cancer for subjects with a family history of breast cancer, compared to no family history were calculated. The mean age at baseline was 41.1 years, and they were followed for a mean of 6...
December 5, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29204651/whole-exome-sequencing-in-adults-with-chronic-kidney-disease-a-pilot-study
#17
Sneh Lata, Maddalena Marasa, Yifu Li, David A Fasel, Emily Groopman, Vaidehi Jobanputra, Hila Rasouly, Adele Mitrotti, Rik Westland, Miguel Verbitsky, Jordan Nestor, Lindsey M Slater, Vivette D'Agati, Marcin Zaniew, Anna Materna-Kiryluk, Francesca Lugani, Gianluca Caridi, Luca Rampoldi, Aditya Mattoo, Chad A Newton, Maya K Rao, Jai Radhakrishnan, Wooin Ahn, Pietro A Canetta, Andrew S Bomback, Gerald B Appel, Corinne Antignac, Glen S Markowitz, Christine K Garcia, Krzysztof Kiryluk, Simone Sanna-Cherchi, Ali G Gharavi
Background: The utility of whole-exome sequencing (WES) for the diagnosis and management of adult-onset constitutional disorders has not been adequately studied. Genetic diagnostics may be advantageous in adults with chronic kidney disease (CKD), in whom the cause of kidney failure often remains unknown. Objective: To study the diagnostic utility of WES in a selected referral population of adults with CKD. Design: Observational cohort. Setting: A major academic medical center...
December 5, 2017: Annals of Internal Medicine
https://www.readbyqxmd.com/read/29203787/crispr-cas9-derived-models-of-ovarian-high-grade-serous-carcinoma-targeting-brca1-pten-and-nf1-and-correlation-with-platinum-sensitivity
#18
Josephine B Walton, Malcolm Farquharson, Susan Mason, Jennifer Port, Bjorn Kruspig, Suzanne Dowson, David Stevenson, Daniel Murphy, Martin Matzuk, Jaeyeon Kim, Seth Coffelt, Karen Blyth, Iain A McNeish
Transplantable murine models of ovarian high grade serous carcinoma (HGSC) remain an important research tool. We previously showed that ID8, a widely-used syngeneic model of ovarian cancer, lacked any of the frequent mutations in HGSC, and used CRISPR/Cas9 gene editing to generate derivatives with deletions in Trp53 and Brca2. Here we have used one ID8 Trp53 -/- clone to generate further mutants, with additional mutations in Brca1, Pten and Nf1, all of which are frequently mutated or deleted in HGSC. We have also generated clones with triple deletions in Trp53, Brca2 and Pten...
December 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29202657/a-case-of-gastric-cancer-metastasis-to-the-breast-in-a-female-with-brca2-germline-mutation-and-literature-review
#19
Audrius Dulskas, Mahdi Al Bandar, Yoon Young Choi, Su-Jin Shin, Seung-Hoon Beom, Taeil Son, Hyung-Il Kim, Jae-Ho Cheong, Woo Jin Hyung, Sung Hoon Noh
INTRODUCTION: Gastric cancer is a deadly disease. Common sites of distant metastasis of gastric cancer are the peritoneum, liver, lymph nodes, and lung. The breast is a rare site of metastasis in gastric cancer which occurs in males dominantly. PATIENTS AND METHODS: Here, we report the first case of metastatic gastric cancer to the breast in a patient with the breast cancer 2 (BRCA2) germline mutation. A 34-year-old female was admitted to the hospital with dyspepsia and a palpable mass in the left breast...
December 5, 2017: Acta Chirurgica Belgica
https://www.readbyqxmd.com/read/29202330/genetic-alterations-in-sporadic-triple-negative-breast-cancer
#20
Laura-Ancuta Pop, Roxana-Maria Cojocneanu-Petric, Valentina Pileczki, Gabriela Morar-Bolba, Alexandru Irimie, Vladimir Lazar, Claudio Lombardo, Angelo Paradiso, Ioana Berindan-Neagoe
BACKGROUND: Recent studies have aimed to identify gene mutation profiles to explain the cause of TNBC therapy limitations. METHODS: The purpose of our study was to use Next Generation Sequencing (NGS) of 46 genes with a well-defined role in cancer in a cohort of TNBC patients in order to identify novel markers that could lead to the development of strategic, adjuvant, gene-targeted therapies. RESULTS: A total of 118 gene mutations in 35 genes, 75 mutations in BRCA1 and 92 mutations in BRCA2 were identified...
December 1, 2017: Breast: Official Journal of the European Society of Mastology
keyword
keyword
23196
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"