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Breast and genetics

Simon B Zeichner, Christine Stanislaw, Jane L Meisel
In recent years, we have learned a great deal about pathogenic mutations that increase the risk of breast and ovarian cancer, particularly mutations in the BRCA1 and BRCA2 genes. Here we review current guidelines on breast and ovarian cancer screening, prophylactic surgery, and other risk-reduction strategies in patients with these mutations, and we detail the data that drive these recommendations. We also discuss guidelines on screening and management for other cancers associated with BRCA1 and BRCA2, such as male breast cancer, pancreatic cancer, and prostate cancer...
October 15, 2016: Oncology (Williston Park, NY)
Jing-Ran Ma, Dan-Hua Wang
Breastfeeding is well-known for its benefits of preventing communicable and non-communicable diseases. Human breastmilk consists not only of nutrients, but also of bioactive substances. What's more, the epigenetic effects of human breast milk may also play an important role. Alterations in the epigenetic regulation of genes may lead to profound changes in phenotype. Clarifying the role of human breast milk on genetic expression can potentially benefit the infant's health and his later life. This review article makes a brief summary of the epigenetic mechanism of breast milk, and its epigenetic effects on neonatal necrotizing enterocolitis, infectious diseases, metabolism syndrome, cognitive function and anaphylactic diseases...
October 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
Trevor Tejada-Bergés
As health care providers, we play a crucial role in the assessment of a patient's risk for hereditary breast cancer syndromes. The panorama of genetic assessment and testing has evolved dramatically since the identification of the BRCA genes. Next-generation sequencing technology has facilitated the development of multigene panels, but 1 consequence has been an increased identification of pathogenic variants at odds with a family history as well as variants of uncertain significance for which treatment guidelines are not defined...
October 5, 2016: Clinical Obstetrics and Gynecology
Dawn Schroeder, Wendy Duggleby, Brenda L Cameron
BACKGROUND: In families where genetic testing for the breast cancer 1 and 2 genes (BRCA1/2) has not identified a deleterious mutation, the risk for hereditary breast cancer (HBC) can still be high when there is a strong family history. Little is known about how an awareness of risk for HBC impacts the everyday lives of unaffected women (no personal history for breast and/or ovarian cancer) in these families. OBJECTIVE: The aim of this study is to explore how unaffected women, living in BRCA1/2-negative families, experience living with risk for HBC...
October 4, 2016: Cancer Nursing
A Harrod, J Fulton, V T M Nguyen, M Periyasamy, L Ramos-Garcia, C-F Lai, G Metodieva, A de Giorgio, R L Williams, D B Santos, P J Gomez, M-L Lin, M V Metodiev, J Stebbing, L Castellano, L Magnani, R C Coombes, L Buluwela, S Ali
Drugs that inhibit estrogen receptor-α (ER) activity have been highly successful in treating and reducing breast cancer progression in ER-positive disease. However, resistance to these therapies presents a major clinical problem. Recent genetic studies have shown that mutations in the ER gene are found in >20% of tumours that progress on endocrine therapies. Remarkably, the great majority of these mutations localize to just a few amino acids within or near the critical helix 12 region of the ER hormone binding domain, where they are likely to be single allele mutations...
October 17, 2016: Oncogene
Guillermo Gervasini, Carlos Jara, Clara Olier, Nuria Romero, Ruth Martínez, Juan Antonio Carrillo
AIMS: Anastrozole, an aromatase inhibitor widely used in breast cancer, has recently been pointed out as a P-glycoprotein (ABCB1) substrate. We have aimed to determine whether ABCB1 single-nucleotide polymorphisms (SNPs) can affect anastrozole plasma concentrations in these patients. In addition, we assessed the impact of SNPs in CYP19A1 and TCL1A on the development of arthralgia and cancer recurrence in our series. METHODS: One-hundred-and-ten postmenopausal women with hormone receptor-positive breast cancer were included...
October 17, 2016: British Journal of Clinical Pharmacology
Gabriela C Fernandes, Rodrigo Ad Michelli, Henrique Cr Galvão, André E Paula, Rui Pereira, Carlos E Andrade, Paula S Felicio, Cristiano P Souza, Deise Rp Mendes, Sahlua Volc, Gustavo N Berardinelli, Rebeca S Grasel, Cristina S Sabato, Danilo V Viana, Edmundo C Mauad, Cristovam Scapulatempo-Neto, Banu Arun, Rui M Reis, Edenir I Palmero
BACKGROUND: There are very few data about the mutational profile of families at-risk for hereditary breast and ovarian cancer (HBOC) from Latin America (LA) and especially from Brazil, the largest and most populated country in LA. RESULTS: Of the 349 probands analyzed, 21.5% were BRCA1/BRCA2 mutated, 65.3% at BRCA1 and 34.7% at BRCA2 gene. The mutation c.5266dupC (former 5382insC) was the most frequent alteration, representing 36.7% of the BRCA1 mutations and 24...
October 12, 2016: Oncotarget
Priyakshi Kalita-de Croft, Fares Al-Ejeh, Amy E McCart Reed, Jodi M Saunus, Sunil R Lakhani
Our understanding of the natural history of breast cancer has evolved alongside technologies to study its genomic, transcriptomic, proteomic, and metabolomics landscapes. These technologies have helped decipher multiple molecular pathways dysregulated in breast cancer. First-generation 'omics analyses considered each of these dimensions individually, but it is becoming increasingly clear that more holistic, integrative approaches are required to fully understand complex biological systems. The 'omics represent an exciting era of discovery in breast cancer research, although important issues need to be addressed to realize the clinical utility of these data through precision cancer care...
November 2016: Advances in Anatomic Pathology
Laura R Bohrer, Thomas S Chaffee, Pavlina Chuntova, Nicholas J Brady, Patrice M Witschen, Sarah E Kemp, Andrew C Nelson, Bruce Walcheck, Kathryn L Schwertfeger
The presence of inflammatory cells within the tumor microenvironment has been tightly linked to mammary tumor formation and progression. Specifically, interactions between tumor cells and infiltrating macrophages can contribute to the generation of a pro-tumorigenic microenvironment. Understanding the complex mechanisms that drive tumor cell-macrophage cross-talk will ultimately lead to the development of approaches to prevent or treat early stage breast cancers. As described here, we demonstrate that the cell surface protease a disintegrin and metalloproteinase 17 (ADAM17) is expressed by macrophages in mammary tumors and contributes to regulating the expression of pro-inflammatory mediators, including inflammatory cytokines and the inflammatory mediator cyclooxygenase-2 (Cox-2)...
July 2016: Genes & Cancer
Weili Min, Xinghan Liu, Ye Lu, Zhuoqing Gong, Meng Wang, Shuai Lin, Huafeng Kang, Tianbo Jin, Xijing Wang, Xiaobin Ma, Kang Liu, Cong Dai, Yi Zheng, Shanli Li, Qingyong Ma, Zhijun Dai
Genetic variations in transcription factor 7-like 2 (TCF7L2) are associated with cancer risk. This study was conducted to establish the relationship between TCF7L2 polymorphisms (rs1225404, rs7003146, and rs7903146) and clinical features and risk of breast cancer in northwest Chinese Han women. In this study, three polymorphisms of TCF7L2 (rs1225404, rs7003146, and rs7903146) were genotyped in 458 patients with breast cancer and 500 healthy controls using the Sequenom MassARRAY-iPLEX system. We evaluated the associations between the polymorphisms and breast cancer using odds ratios (ORs) and corresponding 95% confidence intervals (95% CIs)...
October 12, 2016: Oncotarget
June C Carroll, Tutsirai Makuwaza, Donna P Manca, Nicolette Sopcak, Joanne A Permaul, Mary Ann O'Brien, Ruth Heisey, Elizabeth A Eisenhauer, Julie Easley, Monika K Krzyzanowska, Baukje Miedema, Sandhya Pruthi, Carol Sawka, Nancy Schneider, Jonathan Sussman, Robin Urquhart, Catarina Versaevel, Eva Grunfeld
OBJECTIVE: To assess primary care providers' (PCPs') experiences with, perceptions of, and desired role in personalized medicine, with a focus on cancer. DESIGN: Qualitative study involving focus groups. SETTING: Urban and rural interprofessional primary care team practices in Alberta and Ontario. PARTICIPANTS: Fifty-one PCPs. METHODS: Semistructured focus groups were conducted and audiorecorded...
October 2016: Canadian Family Physician Médecin de Famille Canadien
Ruth Heisey, June C Carroll
OBJECTIVE: To summarize the best evidence on strategies to identify and manage women with a family history of breast cancer. SOURCES OF INFORMATION: A PubMed search was conducted using the search terms breast cancer, guidelines, risk, family history, management, and magnetic resonance imaging screening from 2000 to 2016. Most evidence is level II. MAIN MESSAGE: Taking a good family history is essential when assessing breast cancer risk in order to identify women suitable for referral to a genetic counselor for possible genetic testing...
October 2016: Canadian Family Physician Médecin de Famille Canadien
Rossella Graffeo, Luca Livraghi, Olivia Pagani, Aron Goldhirsch, Ann H Partridge, Judy E Garber
PURPOSE: Genetic evaluation is increasingly becoming an integral part of the management of women with newly diagnosed breast and ovarian cancer (OC), and of individuals at high risk for these diseases. Genetic counseling and testing have been incorporated into oncological care to help and complete management and treatment strategies. Risk assessment and early detection strategies in individuals with BRCA1/2 mutations and with Lynch syndrome have been quite extensively studied, whereas much less is known about the management of mutation carriers with less common high-penetrance cancer susceptibility genes (PTEN, TP53, STK11, CDH1), and particularly those who carry mutations in moderate-penetrance genes (e...
October 12, 2016: Breast Cancer Research and Treatment
John R Benson, Ismail Jatoi, Masakazu Toi
The heterogeneous nature of ductal carcinoma in situ has been emphasised by data for breast-cancer screening that show substantial increases in the detection of early-stage non-invasive breast cancer but no noteworthy change in the incidence of invasive and distant metastatic disease. Indolent non-progressive forms of ductal carcinoma in situ are managed according to similar surgical strategies as high-risk disease, with extent of resection dictated by radiological and pathological estimates of tumour dimensions...
October 2016: Lancet Oncology
Wafa Khaali, Khalid Moumad, El Khalil Ben Driss, Abdellatif Benider, Wided Ben Ayoub, Mokhtar Hamdi-Cherif, Kada Boualga, Elham Hassen, Marilys Corbex, Meriem Khyatti
BACKGROUND: Genetic susceptibility plays a key role in the development of nasopharyngeal carcinoma (NPC) and in fact the disease presents with an unusually high incidence in certain regions of the world like North Africa. We investigated the association between polymorphism of the Transforming growth factor-β1 (TGF-β1) and risk of NPC in North Africa. TGF-β1 is a multifunctional cytokine that acts as both a tumor suppressor and a stimulator of cancer development; it has been shown to influence risk of numerous other carcinomas including lung, breast and prostate cancer...
October 12, 2016: BMC Medical Genetics
Erina Takai, Shinichi Yachida, Kyoko Shimizu, Junji Furuse, Emi Kubo, Akihiro Ohmoto, Masami Suzuki, Ralph H Hruban, Takuji Okusaka, Chigusa Morizane, Toru Furukawa
Clinicopathologic and genetic features of familial pancreatic cancer (FPC) in Asian countries remain largely unknown. The main purpose of this study was to determine the prevalence of FPC and to define causative FPC-predisposition genes in a Japanese cohort with pancreatic ductal adenocarcinoma (PDAC).We reviewed 1,197 patients with a pathologically proven PDAC and found that 88 (7.3%) were FPC patients who had at least one first-degree relative with PDAC. There were no significant differences between the FPC cases and sporadic cases in terms of gender, age, tumor location, stage, family history of any cancer except PDAC, and personal history of smoking, other cancers, diabetes mellitus and chronic pancreatitis...
October 6, 2016: Oncotarget
Tan Tan, Kai Zhang, Wenjun Chen
No abstract text is available yet for this article.
October 11, 2016: Breast Cancer: the Journal of the Japanese Breast Cancer Society
Emily K Law, Anieta M Sieuwerts, Kelly LaPara, Brandon Leonard, Gabriel J Starrett, Amy M Molan, Nuri A Temiz, Rachel Isaksson Vogel, Marion E Meijer-van Gelder, Fred C G J Sweep, Paul N Span, John A Foekens, John W M Martens, Douglas Yee, Reuben S Harris
Breast tumors often display extreme genetic heterogeneity characterized by hundreds of gross chromosomal aberrations and tens of thousands of somatic mutations. Tumor evolution is thought to be ongoing and driven by multiple mutagenic processes. A major outstanding question is whether primary tumors have preexisting mutations for therapy resistance or whether additional DNA damage and mutagenesis are necessary. Drug resistance is a key measure of tumor evolvability. If a resistance mutation preexists at the time of primary tumor presentation, then the intended therapy is likely to fail...
October 2016: Science Advances
E Vandendriessche, G Van De Putte, R Van Den Broecke, Etm De Jonge
AIM: Intra and inter tumour heterogeneity is a known feature in cancer because tumour cells undergo changes at genetic and epigenetic level as they spread from their primary tumour site. Adjuvant treatment protocols in breast cancer are currently based on the biological characteristics of the primary tumour, which in most cases has been removed surgically. Considering tumour heterogeneity in metastases we examined the present status of knowledge regarding measurable differences in tumour profiling between the primary breast tumour and its synchronous axillary lymph node metastases (ALNM) and if so whether adjuvant therapy directed towards the tumour characteristics of the ALNM instead of those of the primary tumour is more effective...
December 28, 2015: Facts, Views & Vision in ObGyn
Susan W Wesmiller, Susan M Sereika, Catherine M Bender, Dana Bovbjerg, Gretchen Ahrendt, Marguerite Bonaventura, Yvette P Conley
BACKGROUND: Postoperative nausea and vomiting (PONV) are two of the most frequent and distressing complications following surgical procedures, with as many as 80% of patients considered to be at risk. Despite recognition of well-established risk factors and the subsequent use of clinical guidelines, 20-30% of women do not respond to antiemetic protocols, indicating that there may be a genetic risk. OBJECTIVE: The purpose of this pilot study was to describe the incidence and explore the risk factors associated with PONV after surgery in women diagnosed with early stage breast cancer...
September 28, 2016: Autonomic Neuroscience: Basic & Clinical
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