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Breast and genetics

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https://www.readbyqxmd.com/read/28548128/genomic-profiling-of-breast-secretory-carcinomas-reveals-distinct-genetics-from-other-breast-cancers-and-similarity-to-mammary-analog-secretory-carcinomas
#1
Gregor Krings, Nancy M Joseph, Gregory R Bean, David Solomon, Courtney Onodera, Eric Talevich, Iwei Yeh, James P Grenert, Elizabeth Hosfield, Emily D Crawford, Richard C Jordan, Annemieke van Zante, Charles Zaloudek, Sandra J Shin, Yunn-Yi Chen
Secretory carcinomas of the breast are rare tumors with distinct histologic features, recurrent t(12;15)(p13;q25) translocation resulting in ETV6-NTRK3 gene fusion and indolent clinical behavior. Mammary analog secretory carcinomas arising in other sites are histopathologically similar to the breast tumors and also harbor ETV6-NTRK3 fusions. Breast secretory carcinomas are often triple (estrogen and progesterone receptor, HER2) negative with a basal-like immunophenotype. However, genomic studies are lacking, and whether these tumors share genetic features with other basal and/or triple negative breast cancers is unknown...
May 26, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28546787/pepsinogen-c-expression-regulation-and-its-relationship-with-cancer
#2
REVIEW
Shixuan Shen, Jingyi Jiang, Yuan Yuan
Pepsinogen C (PGC) belongs to the aspartic protease family and is secreted by gastric chief cells. PGC could be activated to pepsin C and digests polypeptides and amino acids, but as a zymogen PGC's functions is unclear. In normal physiological conditions, PGC is initially detected in the late embryonic stage and is mainly expressed in gastric mucosa. The in situ expression of PGC in gastric mucosa is decreased considerably in the process of superficial gastritis → atrophic gastritis → gastric cancer (GC), proving that PGC is a comparatively ideal negative marker of GC...
2017: Cancer Cell International
https://www.readbyqxmd.com/read/28546519/association-of-three-single-nucleotide-polymorphisms-of-esr1-with-breast-cancer-susceptibility-a-meta-analysis
#3
Xu Hu, Linfei Jiang, Chenhui Tang, Yuehong Ju, Li Jiu, Yongyue Wei, Guo Li, Zhao Yang
Expression of estrogen receptors is correlated with breast cancer risk, but inconsistent results have been reported. To clarify potential estrogen receptor (ESR)-related breast cancer risk, we analyzed genetic variants of ESR1 in association with breast cancer susceptibility. We performed a meta-analysis to investigate the association between rs2234693, rs1801132, and rs2046210 (single nucleotide polymorphisms of ESR1), and breast cancer risk. Our analysis included 44 case-control studies. For rs2234693, the CC genotype had a higher risk of breast cancer compared to the TT or CT genotype...
April 6, 2017: Journal of Biomedical Research
https://www.readbyqxmd.com/read/28545610/a-case-based-reasoning-system-based-on-weighted-heterogeneous-value-distance-metric-for-breast-cancer-diagnosis
#4
Dongxiao Gu, Changyong Liang, Huimin Zhao
OBJECTIVE: We present the implementation and application of a case-based reasoning (CBR) system for breast cancer related diagnoses. By retrieving similar cases in a breast cancer decision support system, oncologists can obtain powerful information or knowledge, complementing their own experiential knowledge, in their medical decision making. METHODS: We observed two problems in applying standard CBR to this context: the abundance of different types of attributes and the difficulty in eliciting appropriate attribute weights from human experts...
March 2017: Artificial Intelligence in Medicine
https://www.readbyqxmd.com/read/28545182/breast-cancer-in-australian-indigenous-women-incidence-mortality-and-risk-factors
#5
Kriscia A Tapia, Gail Garvey, Mark Mc Entee, Mary Rickard, Patrick Brennan
The Indigenous people of Australia face significant health gaps compared with the general population, with lower life expectancies, higher rates of death, and chronic illness occurring more often than in non-indigenous Australians. Cancer is the second largest contributor to the burden of disease with breast cancer being the most common invasive cancer diagnosed for females. Despite a lower breast cancer incidence compared with non-indigenous women, fatalities occur at an elevated rate and breast cancers have an earlier age of onset...
April 1, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28542889/high-risk-patients-with-breast-cancer-may-not-receive-genetic-testing
#6
Carrie Printz
No abstract text is available yet for this article.
June 1, 2017: Cancer
https://www.readbyqxmd.com/read/28542558/improvement-of-non-key-traits-in-radiata-pine-breeding-programme-when-long-term-economic-importance-is-uncertain
#7
Yongjun Li, Heidi Dungey, Alvin Yanchuk, Luis A Apiolaza
Diameter at breast height (DBH), wood density (DEN) and predicted modulus of elasticity (PME) are considered as 'key traits' (KT) in the improvement in radiata pine breeding programmes in New Zealand. Any other traits which are also of interest to radiata pine breeders and forest growers are called 'non-key traits' (NKTs). External resin bleeding (ERB), internal checking (IC), number of heartwood rings (NHR) are three such non-key traits which affect wood quality of radiata pine timber. Economic importance of the KTs and NKTs is hard to define in radiata pine breeding programmes due to long rotation period...
2017: PloS One
https://www.readbyqxmd.com/read/28542378/familial-breast-cancer-genetic-counseling-over-time-including-patients%C3%A2-expectations-and-initiators-considering-the-angelina-jolie-effect
#8
Christina Evers, Christine Fischer, Nicola Dikow, Sarah Schott
PURPOSE: The German Consortium for hereditary breast/ovarian cancer (GC-HBOC) aims for nationwide access to professional, individualized yet structured care for families at high risk. The identification of such families remains key for optimal care. Our study evaluates counselees' characteristics, referral practices, expectations and motivations in respect to their first genetic consultation. The impact of the Angelina Jolie Effect (AJE) was prospectively assessed. METHODS: All counselees could participate through a questionnaire...
2017: PloS One
https://www.readbyqxmd.com/read/28538002/the-cancer-worry-scale-revised-for-breast-cancer-genetic-counseling
#9
Anita Caruso, Cristina Vigna, Paola Gremigni
BACKGROUND: The Cancer Worry Scale was revised to be used in breast cancer genetic counseling (CWS-GC). This scale is used to identify dimensions that are relevant in the genetic counseling context, such as worry about developing breast cancer, impact of worries on daily life, and risk perception in women attending a counseling session for BRCA1/2 mutations. OBJECTIVE: The aim of this study was to estimate the psychometric properties of the CWS-GC in a sample of Italian women...
May 19, 2017: Cancer Nursing
https://www.readbyqxmd.com/read/28537877/clinical-validation-of-genetic-variants-associated-with-in-vitro-chemotherapy-related-lymphoblastoid-cell-toxicity
#10
Peter A Fasching, Lothar Häberle, Brigitte Rack, Liang Li, Alexander Hein, Arif B Ekici, Andre Reis, Michael P Lux, Julie M Cunningham, Matthias Ruebner, Gergory Jenkins, Brooke Fridley, Andreas Schneeweiss, Hans Tesch, Werner Lichtenegger, Tanja Fehm, Georg Heinrich, Mahdi Rezai, Matthias W Beckmann, Wolfgang Janni, Richard M Weinshilboum, Liewei Wang
Hematotoxicity is one of the major side effects of chemotherapy. The aim of this study was to examine the association between single nucleotide polymorphisms (SNPs) and hematotoxicity in breast cancer patients in a subset of patients of the SUCCESS prospective phase III chemotherapy study. All patients (n = 1678) received three cycles of 5-fluorouracil, epirubicin, and cyclophosphamide (FEC) followed by three cycles of docetaxel or docetaxel/gemcitabine, depending on randomization. Germline DNA was genotyped for 246 SNPs selected from a previous genome-wide association study (GWAS) in a panel of lymphoblastoid cell lines, with gemcitabine toxicity as the phenotype...
May 9, 2017: Oncotarget
https://www.readbyqxmd.com/read/28537481/investigation-of-methylenetetrahydrofolate-reductase-c677t-polymorphism-and-human-papilloma-virus-genotypes-in-iranian-breast-cancer
#11
Hanieh Rezaei, Hossein Rassi, Fahimeh Nemati Mansur
Breast cancer (BC) is the leading cause of death among Iranian women. Development of BC is a multistep process, arising from genetic changes such as methylenetetrahydrofolate reductase (MTHFR) polymorphism and infection with human papillomavirus (HPV). In this study, we investigated HPV genotypes associated with BCs and its relation with MTHFR C677T polymorphism for early detection of familial BCs. A total of 84 archival BC samples from Iran were collected. Verification of each cancer reported in a relative was sought through the pathology reports of the hospital records...
May 24, 2017: Monoclonal Antibodies in Immunodiagnosis and Immunotherapy
https://www.readbyqxmd.com/read/28536948/definitive-childlessness-in-women-with-multiple-sclerosis-a-multicenter-study
#12
Diana Ferraro, Anna Maria Simone, Giorgia Adani, Francesca Vitetta, Claudia Mauri, Silvia Strumia, Caterina Senesi, Erica Curti, Eleonora Baldi, Mario Santangelo, Sara Montepietra, Paolo Immovilli, Angelica Guareschi, Walter Neri, Franco Granella, Luisa Caniatti, Maria Rosaria Tola, Luisa Motti, Ilaria Pesci, Enrico Montanari, Patrizia Sola
The frequency of definitive childlessness in women with multiple sclerosis (MS) may be higher than in the general population. MS may also affect decisions on the delivery procedure and on breast-feeding issues. Aim of the study was to assess the frequency of childlessness and its possible causes, the proportion of cesarean deliveries (CD), and the frequency of breast-feeding in patients and controls who have reached the end of their reproductive period. Female MS patients (>43 years) and controls (>45 years) filled out a questionnaire...
May 24, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28536325/association-of-three-single-nucleotide-polymorphisms-of-esr1-with-breast-cancer-susceptibility-a-meta-analysis
#13
Xu Hu, Linfei Jiang, Chenhui Tang, Yuehong Ju, Li Jiu, Yongyue Wei, Guo Li, Zhao Yang
Expression of estrogen receptors is correlated with breast cancer risk, but inconsistent results have been reported. To clarify potential estrogen receptor (ESR)-related breast cancer risk, we analyzed genetic variants of ESR1 in association with breast cancer susceptibility. We performed a meta-analysis to investigate the association between rs2234693, rs1801132, and rs2046210 (single nucleotide polymorphisms of ESR1), and breast cancer risk. Our analysis included 44 case-control studies. For rs2234693, the CC genotype had a higher risk of breast cancer compared to the TT or CT genotype...
April 6, 2017: Journal of Biomedical Research
https://www.readbyqxmd.com/read/28534356/abcb1-c3435t-polymorphism-and-breast-cancer-risk-a-case-control-study-and-a-meta-analysis
#14
Alireza Sharif, Davood Kheirkhah, Mohammad Reza Sharif, Mohammad Karimian, Zahra Karimian
PURPOSE: To investigate the association of ABCB1-C3435T transition with breast cancer risk which was followed by a meta-analysis. METHODS: In a case-control study we collected blood samples from 290 women (including 150 breast cancer patients and 140 healthy controls). ABCB1-C3435T genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. A meta- analysis was performed for a total of 13 eligible studies involving 5,835 cases and 8,178 controls...
March 2017: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/28533477/a-summary-of-relationships-between-alternative-splicing-and-breast-cancer
#15
REVIEW
Zhang Xiping, Wei Qingshan, Zhao Shuai, Yang Hongjian, Ding Xiaowen
Alternative splicing (AS) is the process of combinatorial rearrangement of parts of exons, and/or parts of introns into mature RNA to result in a multitude of transcripts. AS is a biological process through which organisms produce as many protein variants as possible by a limited genetic resource. It plays an important role in growth and development of the organisms. Over the past few years, alternative splicing has been discovered to be critical for genesis and development of malignant tumors, including breast cancer...
May 9, 2017: Oncotarget
https://www.readbyqxmd.com/read/28532420/going-beyond-genetics-to-discover-cancer-targets
#16
Gabriel J Sandoval, William C Hahn
Two recent studies demonstrate the power of integrating tumor genotype information with epigenetic and proteomic studies to discover potential therapeutic targets in breast cancer.
May 22, 2017: Genome Biology
https://www.readbyqxmd.com/read/28530705/ccn5-wisp-2-restores-er-%C3%A2-in-normal-and-neoplastic-breast-cells-and-sensitizes-triple-negative-breast-cancer-cells-to-tamoxifen
#17
S Sarkar, A Ghosh, S Banerjee, G Maity, A Das, M A Larson, V Gupta, I Haque, O Tawfik, S K Banerjee
CCN5/WISP-2 is an anti-invasive molecule and prevents breast cancer (BC) progression. However, it is not well understood how CCN5 prevents invasive phenotypes of BC cells. CCN5 protein expression is detected in estrogen receptor-α (ER-α) -positive normal breast epithelial cells as well as BC cells, which are weakly invasive and rarely metastasize depending on the functional status of ER-α. A unique molecular relation between CCN5 and ER-α has been established as the components of the same signaling pathway that coordinate some essential signals associated with the proliferation as well as delaying the disease progression from a non-invasive to invasive phenotypes...
May 22, 2017: Oncogenesis
https://www.readbyqxmd.com/read/28529692/abnormal-expression-of-atp1a1-and-atp1a2-in-breast-cancer
#18
Alexey Bogdanov, Fedor Moiseenko, Michael Dubina
Breast cancer is the first in incidence and the second in death among all solid tumors occurring in women. The identification of molecular genetic abnormalities in breast cancer is important to improve the results of treatment. In the present study, we analyzed microarray data of breast cancer expression profiling (NCBI GEO database, accession GSE65194), focusing on Na (+)/K (+)-ATPase coding genes. We found overexpression of the ATP1A1 and down-regulation of the ATP1A2. We expect that our research could help to improve the understanding of predictive and prognostic features of breast cancer...
2017: F1000Research
https://www.readbyqxmd.com/read/28529228/-the-absence-doubled-photo-poetic-narratives-of-prophylactic-mastectomy
#19
Stella Bolaki
This essay considers Clare Best's poetic sequence Self-portrait without Breasts (2011) and her collaboration with photographer Laura Stevens, which explore preventive surgery and questions of genetics/hereditary breast cancer. In an era when risk and cosmetic reconstruction guide treatment and the development of new breast cancer subjects, Best reclaims the "flat simple scarred chest with no extras." I situate her poems in the context of statistics and the neoliberal postfeminist subject as well as in a poetic tradition about the post-mastectomy body as landscape...
2017: Literature and Medicine
https://www.readbyqxmd.com/read/28526922/advances-in-systemic-therapy-for-metastatic-breast-cancer-future-perspectives
#20
REVIEW
S P Corona, N Sobhani, A Ianza, G Roviello, G Mustacchi, M Bortul, F Zanconati, D Generali
Breast cancer (BC) is the most common cancer in women worldwide. One in eight women will develop the disease in her lifetime. Notwithstanding the incredible progress made in this field, BC still represents the second most common cause of cancer-related death in women. Targeted drugs have revolutionised breast cancer treatment and improved the prognosis as well as the life expectancy of millions of women. However, the phenomenon of primary and secondary pharmacological resistance is becoming increasingly evident, limiting the efficacy of these agents and calling for a better in-depth knowledge and understanding of the biology as well as the biochemical crosstalk underlying the disease...
July 2017: Medical Oncology
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