نتایج جستجو برای: brca1 و brca2

تعداد نتایج: 770130  

ژورنال: :بیماری های پستان 0
فاطمه کشاورزی دانشگاه آزاد اسلامی، واحد علوم و تحقیقات تهران غلام رضا جوادی دانشگاه آزاد اسلامی، واحد علوم و تحقیقات تهران ناهید نفیسی مرکز تحقیقات سرطان پستان دانشگاه علوم پزشکی شهید بهشتی کیوان مجیدزاده مرکز تحقیقات سرطان پستان جهاد دانشگاهی واحد علوم پزشکی تهران وحید رضا یاسایی مرکز تحقیقات ژنومیک دانشگاه علوم پزشکی شهید بهشتی حمیده باقریان مرکز تحقیقات ژنتیک انسانی کوثر، آزمایشگاه ژنتیک پزشکی دکتر زینلی محمدرضا مشایخی

مقدمه : جهش های ژن brca1 (breast cancer susceptibility gene1) تقریباً در 50 درصد خانواده های با ظهور زودهنگام سرطان پستان و 80 درصد خانواده های با ظهور زودهنگام سرطان پستان - تخمدان و جهش های ژن brca2(breast cancer susceptibility gene2) نیز در درصدی از موارد سرطان پستان ارثی وجود دارند. لذا از آنجا که جهش های این دو ژن بر مدیریت بالینی افراد درمعرض خطر اثر دارد، غربالگری آنها رو به افزایش است. ب...

Journal: :Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2011
Susan L Neuhausen Sean Brummel Yuan Chun Ding Linda Steele Katherine L Nathanson Susan Domchek Timothy R Rebbeck Christian F Singer Georg Pfeiler Henry T Lynch Judy E Garber Fergus Couch Jeffrey N Weitzel Andrew Godwin Steven A Narod Patricia A Ganz Mary B Daly Claudine Isaacs Olufunmilayo I Olopade Gail E Tomlinson Wendy S Rubinstein Nadine Tung Joanne L Blum Daniel L Gillen

BACKGROUND BRCA1 and BRCA2 mutation carriers have a lifetime breast cancer risk of 40% to 80%, suggesting the presence of risk modifiers. We previously identified significant associations in genetic variants in the insulin-like growth factor (IGF) signaling pathway. Here, we investigate additional IGF signaling genes as risk modifiers for breast cancer development in BRCA carriers. METHODS A ...

Background & Aims: Cancer is a genetic disease that results from mutations in genes that control cell activities. Prostate cancer is one of the most common types of cancers in men. Surgery, radiation therapy, hormone therapy, and chemotherapy are used to treat this disease. These treatments have numerous side effects after treatment, including impotence along with the high cost of treatment. In...

Journal: :Journal of applied genetics 2003
Bohdan Górski Tadeusz Debniak Anna Jakubowska Cezary Cybulski Tomasz Huzarski Tomasz Byrski Elzbieta Złowocka Jan Lubiński

Founder mutations can account for a large proportion of BRCA1/BRCA2 gene abnormalities in a given population. However there is still a need to study the entire gene in many families, even in countries where founder mutations have been identified. It is possible to decrease the number of cases which are studied by complex and expensive sequencing/Southern blot analyses of BRCA1/BRCA2 genes by ex...

Journal: :Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2007
Fergus J Couch Olga Sinilnikova Robert A Vierkant V Shane Pankratz Zachary S Fredericksen Dominique Stoppa-Lyonnet Isabelle Coupier David Hughes Agnès Hardouin Pascaline Berthet Susan Peock Margaret Cook Caroline Baynes Shirley Hodgson Patrick J Morrison Mary E Porteous Anna Jakubowska Jan Lubinski Jacek Gronwald Amanda B Spurdle Rita Schmutzler Beatrix Versmold Christoph Engel Alfons Meindl Christian Sutter Jurgen Horst Dieter Schaefer Kenneth Offit Tomas Kirchhoff Irene L Andrulis Eduard Ilyushik Gordon Glendon Peter Devilee Maaike P G Vreeswijk Hans F A Vasen Ake Borg Katja Backenhorn Jeffery P Struewing Mark H Greene Susan L Neuhausen Timothy R Rebbeck Katherine Nathanson Susan Domchek Theresa Wagner Judy E Garber Csilla Szabo Michal Zikan Lenka Foretova Janet E Olson Thomas A Sellers Noralane Lindor Heli Nevanlinna Johanna Tommiska Kristiina Aittomaki Ute Hamann Muhammad U Rashid Diana Torres Jacques Simard Francine Durocher Frederic Guenard Henry T Lynch Claudine Isaacs Jeffrey Weitzel Olufunmilayo I Olopade Steven Narod Mary B Daly Andrew K Godwin Gail Tomlinson Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou

The AURKA oncogene is associated with abnormal chromosome segregation and aneuploidy and predisposition to cancer. Amplification of AURKA has been detected at higher frequency in tumors from BRCA1 and BRCA2 mutation carriers than in sporadic breast tumors, suggesting that overexpression of AURKA and inactivation of BRCA1 and BRCA2 cooperate during tumor development and progression. The F31I pol...

Journal: :JAMA 2012
Kelly L Bolton Georgia Chenevix-Trench Cindy Goh Siegal Sadetzki Susan J Ramus Beth Y Karlan Diether Lambrechts Evelyn Despierre Daniel Barrowdale Lesley McGuffog Sue Healey Douglas F Easton Olga Sinilnikova Javier Benítez María J García Susan Neuhausen Mitchell H Gail Patricia Hartge Susan Peock Debra Frost D Gareth Evans Rosalind Eeles Andrew K Godwin Mary B Daly Ava Kwong Edmond S K Ma Conxi Lázaro Ignacio Blanco Marco Montagna Emma D'Andrea Maria Ornella Nicoletto Sharon E Johnatty Susanne Krüger Kjær Allan Jensen Estrid Høgdall Ellen L Goode Brooke L Fridley Jennifer T Loud Mark H Greene Phuong L Mai Angela Chetrit Flora Lubin Galit Hirsh-Yechezkel Gord Glendon Irene L Andrulis Amanda E Toland Leigha Senter Martin E Gore Charlie Gourley Caroline O Michie Honglin Song Jonathan Tyrer Alice S Whittemore Valerie McGuire Weiva Sieh Ulf Kristoffersson Håkan Olsson Åke Borg Douglas A Levine Linda Steele Mary S Beattie Salina Chan Robert L Nussbaum Kirsten B Moysich Jenny Gross Ilana Cass Christine Walsh Andrew J Li Ronald Leuchter Ora Gordon Montserrat Garcia-Closas Simon A Gayther Stephen J Chanock Antonis C Antoniou Paul D P Pharoah

CONTEXT Approximately 10% of women with invasive epithelial ovarian cancer (EOC) carry deleterious germline mutations in BRCA1 or BRCA2. A recent article suggested that BRCA2-related EOC was associated with an improved prognosis, but the effect of BRCA1 remains unclear. OBJECTIVE To characterize the survival of BRCA carriers with EOC compared with noncarriers and to determine whether BRCA1 an...

Journal: :Anticancer research 2004
Dominique J Bernard-Gallon Pierre J Dechelotte Ludovic Le Corre Nassera Chalabi Cecile Vissac-Sabatier Yves-Jean Bignon

BRCA1 and BRCA2 breast cancer susceptibility genes are responsible for most of the hereditary breast cancers. No or very few sporadic breast tumors have been shown to harbor mutations in the coding sequence of BRCA1 or BRCA2. In contrast to normal breast epithelial cells, BRCA1 mRNA levels in tumors appeared to be down-regulated by methylation, while BRCA2 showed significant overexpression in s...

Journal: : 2022

IN SILICO INVESTIGATION OF THE EFFECT LYCOPENE ON EXPRESSION BRCA1 AND BRCA2 INHIBITOR GENES PROSTATE CANCER

Journal: :Cancer research 2000
C S Sinclair R Berry D Schaid S N Thibodeau F J Couch

Epidemiological studies have suggested that the breast cancer susceptibility genes, BRCA1 and BRCA2, may be involved in the development of prostate cancer. Several studies have screened prostate cancer populations for the presence of BRCA1 and BRCA2 mutations, with few mutations identified. In this study, 22 high-risk prostate cancer families (at least three cases of prostate cancer) were scree...

2016
Abdulla Abdikhakimov Mukaddas Tukhtaboeva Bakhtiyar Adilov Shahlo Turdikulova

Introuduction Breast cancer is the most common malignancy in women and affects approximately 1 out of 8 females in the US. Risk of developing breast cancer is strongly influenced by genetic factors. Germ-line mutations in BRCA1 and BRCA2 genes are associated with 5-10% of breast cancer incidence. To reduce the risk of developing cancer and to increase the likelihood of early detection, carriers...

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