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Breast and genetics

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https://www.readbyqxmd.com/read/28329676/lineage-biased-stem-cells-maintain-estrogen-receptor-positive-and-negative-mouse-mammary-luminal-lineages
#1
Chunhui Wang, John R Christin, Maja H Oktay, Wenjun Guo
Delineating the mammary differentiation hierarchy is important for the study of mammary gland development and tumorigenesis. Mammary luminal cells are considered a major origin of human breast cancers. However, how estrogen-receptor-positive (ER(+)) and ER(-) luminal cells are developed and maintained remains poorly understood. The prevailing model suggests that a common stem/progenitor cell generates both cell types. Through genetic lineage tracing in mice, we find that SOX9-expressing cells specifically contribute to the development and maintenance of ER(-) luminal cells and, to a lesser degree, basal cells...
March 21, 2017: Cell Reports
https://www.readbyqxmd.com/read/28329541/cowden-syndrome-presenting-with-trichilemmomas
#2
Elise Ng, Vitaly Terushkin, Shane A Meehan, Roger Ho, Miriam Keltz Pomeranz
Cowden syndrome (CS) is a genetic cancerpredisposition syndrome that is associated withgermline mutations in the phosphate and tensinhomologue deleted on chromosome ten (PTEN)tumor suppressor gene. It is characterizedby the formation of benign and malignanttumors. Characteristic benign tumors includetrichilemmommas, acral keratoses, mucocutaneousneuromas, and oral papillomas. The most commonmalignant condition include breast, thyroid, andendometrial cancers. We present a case of a30-year-old woman with CS, who initially presentedwith trichilemmomas that were misdiagnosed ascomedonal acne...
December 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28326470/targeted-treatment-of-brain-metastases
#3
REVIEW
Nicole Shonka, Vyshak Alva Venur, Manmeet S Ahluwalia
PURPOSE OF REVIEW: Brain metastases are the most common intracranial tumors in adults. Historically, the median survival after the diagnosis of brain metastases has been dismal and medical therapies had a limited role in the management of these patients. RECENT FINDINGS: The advent of targeted therapy has ushered in an era of increased hope for patients with brain metastases. The most common malignancies that result in brain metastases-melanoma, lung cancer, and breast cancer, often have actionable mutations, which make them good candidates for targeted systemic therapy...
April 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28325191/genetics-of-gastric-cancer
#4
REVIEW
Matthew S Strand, Albert Craig Lockhart, Ryan C Fields
Gastric cancer represents a major cause of cancer mortality worldwide despite a declining incidence. New molecular classification schemes developed from genomic and molecular analyses of gastric cancer have provided a framework for understanding this heterogenous disease, and early findings suggest these classifications will be relevant for designing and implementing new targeted therapies. The success of targeted therapy and immunotherapy in breast cancer and melanoma, respectively, has not been duplicated in gastric cancer, but trastuzumab and ramucirumab have demonstrated efficacy in select populations...
April 2017: Surgical Clinics of North America
https://www.readbyqxmd.com/read/28324225/spectrum-of-genetic-variants-of-brca1-and-brca2-in-a-german-single-center-study
#5
Cornelia Meisel, Carolin Eva Sadowski, Daniela Kohlstedt, Katja Keller, Franziska Stäritz, Nannette Grübling, Kerstin Becker, Luisa Mackenroth, Andreas Rump, Evelin Schröck, Norbert Arnold, Pauline Wimberger, Karin Kast
BACKGROUND: Determination of mutation status of BRCA1 and BRCA2 has become part of the clinical routine. However, the spectrum of genetic variants differs between populations. The aim of this study was to deliver a comprehensive description of all detected variants. METHODS: In families fulfilling one of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) criteria for genetic testing, one affected was chosen for analysis. DNA of blood lymphocytes was amplified by PCR and prescreened by DHPLC...
March 21, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28323373/the-impact-of-mental-illness-on-uptake-of-genetic-counseling-for-hereditary-breast-cancer-and-ovarian-cancer-in-a-multiethnic-cohort-of-breast-cancer-patients
#6
Marra G Ackerman, Peter A Shapiro, Austin Coe, Meghna S Trivedi, Katherine D Crew
We evaluated whether mental illness is a barrier to genetic counseling for hereditary breast and ovarian cancer (HBOC) in multiethnic breast cancer patients. We conducted a retrospective analysis of 308 women with newly diagnosed breast cancer and eligible for HBOC genetic testing seen in the breast clinic of an academic, urban medical center from 2007 to 2015. Uptake of genetic services and history of mental health disorder (MHD), defined as a psychiatric diagnosis or treatment with an antidepressant, mood stabilizer, anxiolytic, or antipsychotic medication, were ascertained by medical chart review...
March 21, 2017: Breast Journal
https://www.readbyqxmd.com/read/28323344/study-to-examine-genetic-factors-behind-increased-risk-of-breast-cancer-in-african-americans
#7
Carrie Printzcancer
No abstract text is available yet for this article.
April 1, 2017: Cancer
https://www.readbyqxmd.com/read/28320353/genome-independent-hypoxic-repression-of-estrogen-receptor-alpha-in-breast-cancer-cells
#8
Mercè Padró, Raymond J Louie, Brian V Lananna, Adam J Krieg, Luika A Timmerman, Denise A Chan
BACKGROUND: About 75-80% of breast tumors express the estrogen receptor alpha (ER-α) and are treated with endocrine-target therapeutics, making this the premier therapeutic modality in the breast cancer clinic. However, acquired resistance is common and about 20% of resistant tumors loose ER-α expression via unknown mechanisms. Inhibition of ER-α loss could improve endocrine therapeutic efficacy, benefiting a significant number of patients. Here we test whether tumor hypoxia might commonly produce ER-α loss...
March 20, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28319090/a-single-copy-sleeping-beauty-transposon-mutagenesis-screen-identifies-new-pten-cooperating-tumor-suppressor-genes
#9
Jorge de la Rosa, Julia Weber, Mathias Josef Friedrich, Yilong Li, Lena Rad, Hannes Ponstingl, Qi Liang, Sandra Bernaldo de Quirós, Imran Noorani, Emmanouil Metzakopian, Alexander Strong, Meng Amy Li, Aurora Astudillo, María Teresa Fernández-García, María Soledad Fernández-García, Gary J Hoffman, Rocío Fuente, George S Vassiliou, Roland Rad, Carlos López-Otín, Allan Bradley, Juan Cadiñanos
The overwhelming number of genetic alterations identified through cancer genome sequencing requires complementary approaches to interpret their significance and interactions. Here we developed a novel whole-body insertional mutagenesis screen in mice, which was designed for the discovery of Pten-cooperating tumor suppressors. Toward this aim, we coupled mobilization of a single-copy inactivating Sleeping Beauty transposon to Pten disruption within the same genome. The analysis of 278 transposition-induced prostate, breast and skin tumors detected tissue-specific and shared data sets of known and candidate genes involved in cancer...
March 20, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28317869/genetic-association-between-the-cyclin-dependent-kinase-inhibitor-gene-p27-kip1-polymorphism-rs34330-and-cancer-susceptibility-a-meta-analysis
#10
Xiao-Ke Cheng, Xue-Jun Wang, Xiao-Dong Li, Xue-Qun Ren
The p27 rs34330 (-79C/T) polymorphism has been widely studied for human cancer susceptibility. The current findings, however, still remained controversial. Therefore, we performed the meta-analysis to provide a more accurate result. Eligible studies were identified from PubMed database up to June 2015. The association of p27 rs34330 polymorphism and cancer susceptibility was estimated with odds ratios and corresponding 95% confidence intervals. The meta-analysis was performed with Stata 12. A total of ten studies with 11,214 cases and more than 8,776 controls were included in the meta-analysis (including breast, lung, thyroid, endometrial, and hepatocellular cancer)...
March 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28316306/evolving-trends-and-influencing-factors-in-mastectomy-decisions
#11
Sneha Bhat, Amila Orucevic, Caroline Woody, Robert E Heidel, John L Bell
It is known that survival is unaffected by the choice of surgical management for breast cancer (BC) patients. Despite this fact, recent literature reveals that the number of bilateral mastectomies (BMs) in the United States is increasing. In an effort to elucidate potential factors influencing this trend, we investigated socioeconomic and clinicopathologic characteristics of our patient cohort that could have affected a patient's decision between unilateral mastectomy (UM) versus BM. Five-hundred-eight patients with unilateral BC who underwent mastectomy between 2000 and 2009 were analyzed: 397-UM; 111-BM...
March 1, 2017: American Surgeon
https://www.readbyqxmd.com/read/28315974/inherited-dna-repair-gene-mutations-detected-by-tumor-next-generation-sequencing-in-urinary-tract-cancers
#12
Sumati Gupta, Samantha Greenberg, Jade Grimmett, David Gaston, Neeraj Agarwal, William Lowrance, Joshua Schiffman, Wendy Kohlmann
Interpretation of next-generation sequencing (NGS) of tumor tissue in patients with advanced Urinary Tract Cancer (UTC) is performed to guide treatment selection but may reveal pathogenic variants with germline implications. We identified three patients with UTC with unexpected germline DNA repair gene mutations. Specific testing for these was prompted by the detection of these mutations by tumor NGS. All three patients were nonsmokers with a strong family history of cancer. Two patients had upper tract UTC with age at diagnosis in the 40 s...
March 18, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28315507/polymorphisms-and-mutations-in-gstp1-rad51-xrcc1-and-xrcc3-genes-in-breast-cancer-patients
#13
Mazhar Salim Al Zoubi, Katia Zavaglia, Chiara Mazanti, Mohammad Al Hamad, Khalid Al Batayneh, Alaa A A Aljabali, Generoso Bevilacqua
BACKGROUND: Genotoxic factors, including ionizing radiation and oxidative stress, are associated with genomic instability and development of breast cancer (BC). The homologous recombination DNA repair (HRR) pathway, base excision repair (BER) mechanism, and antioxidative enzymes are required as defense mechanisms against these DNA damaging agents. GSTP1, XRCC1, XRCC3 and RAD51 proteins are essential components of antioxidation, BER and HRR of DNA, respectively. Deficiencies in BER, HRR and antioxidation pathways are involved in the progression of cancer...
March 6, 2017: International Journal of Biological Markers
https://www.readbyqxmd.com/read/28315399/truncating-titin-ttn-variants-in-chemotherapy-induced-cardiomyopathy
#14
M Linschoten, A J Teske, A F Baas, A Vink, D Dooijes, H F Baars, F W Asselbergs
Chemotherapy-induced cardiomyopathy (CCMP) is a complication of chemotherapy treatment occurring in 9% of patients treated with anthracyclines. Currently, risk stratification is based on clinical risk factors that do not adequately explain the variable individual susceptibility. This points towards the presence of other determinants. In this case series, we describe two women with breast cancer that developed severe heart failure within months after chemotherapy. Genetic screening revealed truncating frameshift mutations in TTN, encoding the myofilament titin, in both women...
March 14, 2017: Journal of Cardiac Failure
https://www.readbyqxmd.com/read/28315227/insulin-like-growth-factor-1-gene-polymorphism-in-women-with-breast-cancer
#15
Danylo Rafhael Costa-Silva, Maria da Conceição Barros-Oliveira, Rafael Soares Borges, Larysse Maira Campos-Verdes, João Paulo da Silva-Sampaio, Carla Solange Escorcio-Dourado, Luana Mota Martins, Airlane Pereira Alencar, Edmund Chada Baracat, Vladimir Costa Silva, Benedito Borges da Silva
Breast cancer is a disease of unknown etiology; however, the major risk factors are genetic alterations. Studies have demonstrated an association between insulin-like growth factor 1 (IGF-1) gene polymorphism and cell proliferation and reduced apoptosis, in addition to its role in breast cancer growth and aggressiveness. Two polymorphic variants of the IGF-1 gene are highlighted in association with breast cancer, rs6220 and rs7136446, although controversy exists as to this relationship. The current study included 137 women (68 breast cancer cases and 69 controls without breast cancer) who had 3 ml of peripheral blood drawn for the study of genomic DNA extracted from leukocytes using the genotyping technique by real-time polymerase chain reaction...
April 2017: Medical Oncology
https://www.readbyqxmd.com/read/28314541/risk-of-subsequent-primary-kidney-cancer-after-another-malignancy-a-population-based-study
#16
Omar Abdel-Rahman
BACKGROUND: Population-based data on the development of kidney cancer as a second malignant neoplasm following the diagnosis of other common malignancies are rare. This clinical scenario has been evaluated within the Surveillance, Epidemiology, and End Results (SEER) database. MATERIALS AND METHODS: The SEER-9 database (1973-2013) was queried using the SEER*Stat program to determine the standardized incidence ratios (SIRs) of kidney cancer development following each one of 10 common invasive malignancies (colorectal, breast, prostate, lung, thyroid, corpus uteri, urinary bladder, kidney/renal pelvis, cutaneous melanoma, and non-Hodgkin lymphoma)...
February 27, 2017: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/28304197/endovascular-treatment-of-a-dural-arteriovenous-fistula-in-a-patient-with-loeys-dietz-syndrome-a-case-report
#17
Rie Aoki, Kittipong Srivatanakul, Takahiro Osada, Kazuko Hotta, Takatoshi Sorimachi, Mitsunori Matsumae, Hiroko Morisaki
Background Loeys-Dietz syndrome (LDS) is a recently recognized autosomal dominant connective tissue disease. The manifestations of LDS include vascular tortuosity, scoliosis, craniosynostosis, aneurysm and aortic dissections. Clinical presentation A 35-year-old woman treated with Stanford type B aortic dissection and breast cancer was referred to us for Borden type II dural arteriovenous fistula (dAVF) draining to the vein of Galen, involving the midline of tentorium cerebelli. The dAVF was treated successfully by combined transarterial and transvenous embolization...
April 2017: Interventional Neuroradiology
https://www.readbyqxmd.com/read/28304148/the-enigmatic-role-of-runx1-in-female-related-cancers-current-knowledge-future-perspectives
#18
REVIEW
Alessandra I Riggio, Karen Blyth
Historically associated with the aetiology of human leukaemia, the RUNX1 gene has in recent years reared its head in an assortment of epithelial cancers. This review discusses the state-of-the-art knowledge of the enigmatic role played by RUNX1 in female-related cancers of the breast, the uterus and the ovary. The weight of evidence accumulated so far is indicative of a very context-dependent role, as either an oncogene or a tumour suppressor. This is corroborated by high-throughput sequencing endeavours which report different genetic alterations affecting the gene, including amplification, deep deletion and mutations...
March 17, 2017: FEBS Journal
https://www.readbyqxmd.com/read/28303775/reared-apart-chinese-twins-chance-discovery-twin-based-research-twin-study-of-media-use-twin-relations-over-the-life-span-breast-feeding-opposite-sex-twins-print-and-online-media-twins-in-fashion-second-twin-pair-born-to-tennis-star-twin-primes-twin-pandas
#19
Nancy L Segal
A January 2017 reunion of 10-year-old reared-apart Chinese twin girls was captured live on ABC's morning talk show Good Morning America, and rebroadcast on their evening news program Nightline. The twins' similarities and differences, and their participation in ongoing research will be described. This story is followed by reviews of twin research concerning genetic and environmental influences on media use, twin relations across the lifespan and the breast-feeding of opposite-sex twins. Popular interest items include twins in fashion, the second twin pair born to an internationally renowned tennis star, twin primes and twin pandas...
April 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/28302160/increased-genomic-burden-of-germline-copy-number-variants-is-associated-with-early-onset-breast-cancer-australian-breast-cancer-family-registry
#20
Logan C Walker, John F Pearson, George A R Wiggins, Graham G Giles, John L Hopper, Melissa C Southey
BACKGROUND: Women with breast cancer who have multiple affected relatives are more likely to have inherited genetic risk factors for the disease. All the currently known genetic risk factors for breast cancer account for less than half of the average familial risk. Furthermore, the genetic factor(s) underlying an increased cancer risk for many women from multiple-case families remain unknown. Rare genomic duplications and deletions, known as copy number variants (CNVs), cover more than 10% of a human genome, are often not assessed in studies of genetic predisposition, and could account for some of the so-called "missing heritability"...
March 16, 2017: Breast Cancer Research: BCR
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