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Breast cancer genetic tests

Kristen E Muller, Jonathan D Marotti, Laura J Tafe
OBJECTIVES: To review breast cancer with human epidermal growth factor receptor 2 (HER2) genetic heterogeneity (GH), with a focus on clinician interpretation of the results and subsequent management. METHODS: We retrospectively searched all consecutive invasive breast cancers that underwent HER2 fluorescent in situ hybridization testing and identified cases with HER2 GH. RESULTS: Eleven (0.4%) cases of primary breast tumors with reported HER2 GH were identified over 76 months...
March 20, 2019: American Journal of Clinical Pathology
Emily A Quinn, Jamie L Maciaszek, Emilia M Pinto, Aaron H Phillips, David Berdy, Mohammad Khandwala, Santhosh A Upadhyaya, Gerard P Zambetti, Richard W Kriwacki, David W Ellison, Kim E Nichols, Chimene Kesserwan
Li-Fraumeni syndrome (LFS) is a highly penetrant cancer predisposition syndrome caused by heterozygous germline mutations in the TP53 gene. Although several missense and null TP53 mutations are well established as disease-causing, little is known about the pathogenicity and cancer risks associated with small in-frame deletions. This leads to challenges in variant classification and subsequent difficulty making a molecular diagnosis. We report the genetic testing process for a pediatric patient diagnosed with an undifferentiated high-grade brain tumor following his mother's diagnosis of early-onset bilateral breast cancer...
March 18, 2019: Cold Spring Harbor Molecular Case Studies
Deborah O Himes, Sarah H Davis, Jane H Lassetter, Neil E Peterson, Margaret F Clayton, Wendy C Birmingham, Anita Y Kinney
Knowledge of breast cancer genetics is critical for those at increased hereditary risk who must make decisions about breast cancer screening options. This descriptive study explored theory-based relationships among cognitive and emotional variables related to knowledge of breast cancer genetics in cancer families. Participants included first-degree relatives of women with breast cancer who had received genetic counseling and testing. Study participants themselves did not have breast cancer and had not received genetic counseling or testing...
March 15, 2019: Journal of Community Genetics
Altovise T Ewing, Nnenna Kalu, Gloria Cain, Lori H Erby, Luisel J Ricks-Santi, Eva Tetteyfio-Kidd Telemaque, Denise M Scott
This study evaluated factors associated with willingness to provide biospecimens for cancer genetic research among African American cancer survivors. A total of 200 African American adults diagnosed with breast, colon, and/or prostate cancers completed a self-administered survey. Family history information, beliefs about cancer research, cancer genetics and disparities knowledge, willingness to provide a biospecimen, and demographics were obtained. Chi-square, independent samples t tests, and logistic regression analyses were performed...
March 14, 2019: Journal of Community Genetics
Perla Meneses-Sanchez, Samantha C Garcia-Hernandez, Leonardo M Porchia, Ricardo Pérez-Fuentes, Enrique Torres-Rasgado, Alejandra Del Angel Soto, M Elba Gonzalez-Mejia
BACKGROUND: Previous meta-analyses have shown an ethnic dependency of the C677T and the A1298C methylenetetrahydrofolate reductase (MTHFR) polymorphisms, with no focus on the Latino population. For Latinos, many studies have examined these polymorphisms and breast cancer susceptibility, yielding no concise result. Therefore, we undertook this meta-analysis to determine the effect these polymorphisms have on breast cancer risk for Latinos. METHODS: PubMed, EBSCO, LILACS, Scopus, and Latin American-specific databases were searched for studies exploring the association between the MTHFR polymorphisms and breast cancer susceptibility in Latinos until January 2019...
March 15, 2019: Breast Cancer: the Journal of the Japanese Breast Cancer Society
Samuel Guan Wei Ow, Pei Yi Ong, Soo-Chin Lee
BACKGROUND: Due to historically low uptake of genetic testing, the mutational spectrum of Asians with Hereditary Breast Cancer (HBC) is not well understood. This study sought to understand the incidence and spectrum of germline mutations in Asian patients with suspected HBC in a clinic setting. METHODS: 1056 patients with suspected HBC were seen in our Cancer (CA) Genetics Clinic from 2000-2017, of which 460 underwent genetic testing. RESULTS: Of 460 probands tested, 93% were female, 61% Chinese, 90% had prior CA, with 19% (77/414) having ≥2 primary CA...
2019: PloS One
Fred H Menko, Efraim H Rosenberg, Lizet E van der Kolk
Three BRCA1/BRCA2 mutations occur more frequently in the Jewish population than in the general population. In Jewish patients with breast cancer about 10% of cases are caused by one of these mutations; consequently, all patients with breast cancer and who are of Jewish ancestry, or their healthy family members, are eligible for genetic testing.
March 1, 2019: Nederlands Tijdschrift Voor Geneeskunde
Brett L Ecker, Jun Y Lee, Christopher J Sterner, Aaron C Solomon, Dhruv K Pant, Fei Shen, Javier Peraza, Lauren Vaught, Samyukta Mahendra, George K Belka, Tien-Chi Pan, Kathryn H Schmitz, Lewis A Chodosh
BACKGROUND: Obesity is associated with an increased risk of breast cancer recurrence and cancer death. Recurrent cancers arise from the pool of residual tumor cells, or minimal residual disease (MRD), that survives primary treatment and persists in the host. Whether the association of obesity with recurrence risk is causal is unknown, and the impact of obesity on MRD and breast cancer recurrence has not been reported in humans or in animal models. METHODS: Doxycycline-inducible primary mammary tumors were generated in intact MMTV-rtTA;TetO-HER2/neu (MTB/TAN) mice or orthotopic recipients fed a high-fat diet (HFD; 60% kcal from fat) or a control low-fat diet (LFD; 10% kcal from fat)...
March 13, 2019: Breast Cancer Research: BCR
Qian Liu, Song Yao, Hua Zhao, Qiang Hu, Marilyn L Kwan, Janise M Roh, Christine B Ambrosone, Lawrence H Kushi, Song Liu, Qianqian Zhu
Young black women are at higher risk of triple-negative breast cancer (TNBC); however, a majority of the genetic studies on cancer predisposition were carried out in White populations. The underrepresentation of minority racial/ethnic populations in cancer genetic studies may have led to disproportionate gaps in our knowledge of cancer predisposition genes in these populations. We surveyed the protein-truncating mutations at the exome-wide scale and in known breast cancer predisposition genes among 170 patients of multiple racial/ethnic groups with early-onset (≤age 50) TNBC from two independent cohorts...
March 12, 2019: Cancer Medicine
Fabrice Kwiatkowski, Mathilde Gay-Bellile, Pascal Dessenne, Claire Laquet, Véronique Boussion, Marie Béguinot, Marie-Françoise Petit, Anne-Sophie Grémeau, Céline Verlet, Charlotte Chaptal, Marilyn Broult, Sylvie Jouvency, Martine Duclos, Yves-Jean Bignon
Background: In families with high risk of hereditary breast/ovarian cancer (HBOC), women before age 30 do not yet undergo clinical screening, but they are exposed to contradictory information from diverse sources. They may be presented with surgical prevention options at a key moment of their identity construction, the start of a marital relationship and/or at the onset of procreation projects. We tested an original psychoeducational intervention to help these women better cope with these difficult issues...
2019: Hereditary Cancer in Clinical Practice
Angeliki Delimitsou, Florentia Fostira, Despoina Kalfakakou, Paraskevi Apostolou, Irene Konstantopoulou, Christos Kroupis, Athanasios G Papavassiliou, Zdenek Kleibl, Efstratios Stratikos, Gerassimos E Voutsinas, Drakoulis Yannoukakos
Genetic testing for cancer predisposition leads to the identification of a number of variants with uncertain significance. To some extent, variants of BRCA1/2 have been classified, in contrast to variants of other genes. CHEK2 is a typical example, in which a large number of variants of unknown clinical significance were identified and still remained unclassified. Herein, the CHEK2 variant assessment was performed through an in vivo, yeast-based, functional assay. In total, 120 germline CHEK2 missense variants, distributed along the protein sequence, and two large in-frame deletions were tested, originating from genetic test results in breast cancer families, or selected from the ClinVar database...
March 9, 2019: Human Mutation
Marciana Nona Duma, Andrea Wittig
No abstract text is available yet for this article.
March 7, 2019: Strahlentherapie und Onkologie: Organ der Deutschen Röntgengesellschaft ... [et Al]
Yiyin Tang, Yishan Wang, Xi Wang, Yang Liu, Kai Zheng
INTRODUCTION: Growth arrest-specific 5 (GAS5), downregulated in breast cancer (BC), functions as a tumor suppressor by affecting tumor growth and cell apoptosis in vivo and in vitro. This study was designed to determine whether an insertion (ins)/deletion (del) polymorphism (rs145204276 AGGCA/-) in the promoter region of GAS5 was a susceptibility gene to the occurrence of BC. PATIENTS AND METHODS: A hospital-based case-control study was conducted and the GAS5 rs145204276 genotype was analyzed in 575 sporadic BC patients and 602 controls to test the association between the polymorphism and BC risk...
November 14, 2018: Clinical Breast Cancer
Mohammad A Alzubi, Tia H Turner, Amy L Olex, Sahib S Sohal, Nicholas P Tobin, Susana G Recio, Jonas Bergh, Thomas Hatschek, Joel S Parker, Carol A Sartorius, Charles M Perou, Mikhail G Dozmorov, J Chuck Harrell
BACKGROUND: The seed and soil hypothesis was proposed over a century ago to describe why cancer cells (seeds) grow in certain organs (soil). Since then, the genetic properties that define the cancer cells have been heavily investigated; however, genomic mediators within the organ microenvironment that mediate successful metastatic growth are less understood. These studies sought to identify cancer- and organ-specific genomic programs that mediate metastasis. METHODS: In these studies, a set of 14 human breast cancer patient-derived xenograft (PDX) metastasis models was developed and then tested for metastatic tropism with two approaches: spontaneous metastases from mammary tumors and intravenous injection of PDX cells...
March 6, 2019: Breast Cancer Research: BCR
Ava Kwong, Ka-Leung Danny Cheng, Chan-Chee Victor Hsue, Sze-Ki Hui, Ching-Yu Roland Leung, Kwong-Chuen Angus Leung, Kai-Cheong Roger Ngan, Sung Inda Soong
AIMS: BRCA mutation (BRCAmut) testing is an important tool for the risk assessment, prevention and early diagnosis of breast cancer (BC) and ovarian cancer (OC), and more recently, for determining patient susceptibility to targeted therapy. This study assessed the current BRCAmut testing patterns and explored physicians' perspectives on the utilities and optimal sequencing of the testing, in order to facilitate and standardize testing practices. METHODS: Medical specialists in BC and OC in Hong Kong were invited to complete a questionnaire on BRCAmut testing practices...
March 6, 2019: Asia-Pacific Journal of Clinical Oncology
Vinay K Kartha, Paola Sebastiani, Joseph G Kern, Liye Zhang, Xaralabos Varelas, Stefano Monti
The identification of genetic alteration combinations as drivers of a given phenotypic outcome, such as drug sensitivity, gene or protein expression, and pathway activity, is a challenging task that is essential to gaining new biological insights and to discovering therapeutic targets. Existing methods designed to predict complementary drivers of such outcomes lack analytical flexibility, including the support for joint analyses of multiple genomic alteration types, such as somatic mutations and copy number alterations, multiple scoring functions, and rigorous significance and reproducibility testing procedures...
2019: Frontiers in Genetics
Lars J Grimm, Rebecca A Shelby, Emily E Knippa, Eun L Langman, Lauren S Miller, Beth A Whiteside, Mary Scott Soo
PURPOSE: The aim of this study was to quantify women's personal estimates of breast cancer risk and frequency of breast cancer thoughts. METHODS: Women from five medical centers were surveyed before their screening mammographic examinations. Participants were queried on their baseline anxiety and demographics, then asked how many times in the past month they had thought about developing breast cancer. Participants were then notified of the 12% lifetime average breast cancer risk and asked to estimate their personal risk both subjectively and objectively...
February 27, 2019: Journal of the American College of Radiology: JACR
Erin Turbitt, Megan C Roberts, Jennifer M Taber, Erika A Waters, Timothy S McNeel, Barbara B Biesecker, William M P Klein
We examined what proportion of the U.S. population with no personal cancer history reported receiving either genetic counseling or genetic testing for cancer risk, and also the association of these behaviors with cancer risk perceptions. We used data from the 2015 National Health Interview Survey. Objective relative risk scores for breast (women) and colorectal (men and women) cancer risk were generated for individuals without a personal history of cancer. Participants' risk perceptions were compared with their objective relative risk...
February 25, 2019: Preventive Medicine
Yong Yu, Jingjing Qi, Jieyi Xiong, Liping Jiang, Di Cui, Junlin He, Ping Chen, Lianjie Li, Chenjie Wu, Tonghui Ma, Su Shao, Jianjun Wang, Dansong Yu, Bing Zhou, Dongsheng Huang, Clemens A Schmitt, Ran Tao
Triple-negative breast cancer (TNBC) cells lack the expression of ER, PR and HER2. Thus, TNBC patients cannot benefit from hormone receptor-targeted therapy as non-TNBC patients, but can only receive chemotherapy as the systemic treatment and have a worse overall outcome. More effective therapeutic targets and combination therapy strategies are urgently needed to improve the treatment effectiveness. Methods: We analyzed the expression levels of EZH2 and TET1 in TCGA and our own breast cancer patient cohort, and tested their correlation with patient survival...
2019: Theranostics
Miseon Kim, Dong Hoon Suh, Kyung Hun Lee, Keun Yong Eom, Nanna Gilliam Toftdahl, Mansoor Raza Mirza, Jae Weon Kim
Nineteen topics were selected as major clinical research advances in gynecologic oncology in 2018. For cervical cancer, the importance of human papillomavirus (HPV) testing alone as primary cervical cancer screening method and negative survival impact of minimally invasive surgery in early-stage cervical cancer were addressed. For ovarian cancer, cost-effectiveness of genetic testing to prevent cancer, use of analgesics and oral pill to reduce cancer risk, efficacy of secondary cytoreductive surgery and hyperthermic intraperitoneal chemotherapy, update in the use of poly (ADP-ribose) polymerase inhibitor, and efficacy of anti-angiogenic targeted treatments, including bevacizumab and tyrosine kinase inhibitors, were reviewed...
March 2019: Journal of Gynecologic Oncology
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