نتایج جستجو برای: brca1 و brca2

تعداد نتایج: 770130  

2012
Ava Kwong Enders Kai On Ng Chris Lei Po Wong Fian Bic Fai Law Tommy Au Hong Nei Wong Allison W. Kurian Dee W. West James M. Ford Edmond Siu Kwan Ma

BACKGROUND Ethnic variations in breast cancer epidemiology and genetics have necessitated investigation of the spectra of BRCA1 and BRCA2 mutations in different populations. Knowledge of BRCA mutations in Chinese populations is still largely unknown. We conducted a multi-center study to characterize the spectra of BRCA mutations in Chinese breast and ovarian cancer patients from Southern China....

Journal: :Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2013
Kelly-Anne Phillips Roger L Milne Matti A Rookus Mary B Daly Antonis C Antoniou Susan Peock Debra Frost Douglas F Easton Steve Ellis Michael L Friedlander Saundra S Buys Nadine Andrieu Catherine Noguès Dominique Stoppa-Lyonnet Valérie Bonadona Pascal Pujol Sue Anne McLachlan Esther M John Maartje J Hooning Caroline Seynaeve Rob A E M Tollenaar David E Goldgar Mary Beth Terry Trinidad Caldes Prue C Weideman Irene L Andrulis Christian F Singer Kate Birch Jacques Simard Melissa C Southey Håkan L Olsson Anna Jakubowska Edith Olah Anne-Marie Gerdes Lenka Foretova John L Hopper

PURPOSE To determine whether adjuvant tamoxifen treatment for breast cancer (BC) is associated with reduced contralateral breast cancer (CBC) risk for BRCA1 and/or BRCA2 mutation carriers. METHODS Analysis of pooled observational cohort data, self-reported at enrollment and at follow-up from the International BRCA1, and BRCA2 Carrier Cohort Study, Kathleen Cuningham Foundation Consortium for ...

2016
Xia Ding Arnab Ray Chaudhuri Elsa Callen Yan Pang Kajal Biswas Kimberly D Klarmann Betty K Martin Sandra Burkett Linda Cleveland Stacey Stauffer Teresa Sullivan Aashish Dewan Hanna Marks Anthony T Tubbs Nancy Wong Eugen Buehler Keiko Akagi Scott E Martin Jonathan R Keller André Nussenzweig Shyam K Sharan

Poly (ADP-ribose) polymerase (PARP) inhibitor (PARPi) olaparib has been approved for treatment of advanced ovarian cancer associated with BRCA1 and BRCA2 mutations. BRCA1- and BRCA2-mutated cells, which are homologous recombination (HR) deficient, are hypersensitive to PARPi through the mechanism of synthetic lethality. Here we examine the effect of PARPi on HR-proficient cells. Olaparib pretre...

Journal: :Cancer research 2006
Kathleen E Malone Janet R Daling David R Doody Li Hsu Leslie Bernstein Ralph J Coates Polly A Marchbanks Michael S Simon Jill A McDonald Sandra A Norman Brian L Strom Ronald T Burkman Giske Ursin Dennis Deapen Linda K Weiss Suzanne Folger Jennifer J Madeoy Danielle M Friedrichsen Nicola M Suter Mariela C Humphrey Robert Spirtas Elaine A Ostrander

Although well studied in families at high-risk, the roles of mutations in the BRCA1 and BRCA2 genes are poorly understood in breast cancers in the general population, particularly in Black women and in age groups outside of the very young. We examined the prevalence and predictors of BRCA1 and BRCA2 mutations in 1,628 women with breast cancer and 674 women without breast cancer who participated...

2002
S Gad

Identification of the BRCA1 and BRCA2 genes was a major advance in the understanding of the familial forms of breast cancer, as alterations of these genes result in a high predisposition to breast cancer. 2 To date, analysis of BRCA1 and BRCA2 coding sequences by mutation screening methods based on PCR sequencing protocols has allowed the identification of at least 900 different point or small ...

Journal: :Human molecular genetics 2010
Xianshu Wang V Shane Pankratz Zachary Fredericksen Robert Tarrell Mary Karaus Lesley McGuffog Paul D P Pharaoh Bruce A J Ponder Alison M Dunning Susan Peock Margaret Cook Clare Oliver Debra Frost Olga M Sinilnikova Dominique Stoppa-Lyonnet Sylvie Mazoyer Claude Houdayer Frans B L Hogervorst Maartje J Hooning Marjolijn J Ligtenberg Amanda Spurdle Georgia Chenevix-Trench Rita K Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Susan M Domchek Katherine L Nathanson Timothy R Rebbeck Christian F Singer Daphne Gschwantler-Kaulich Catherina Dressler Anneliese Fink Csilla I Szabo Michal Zikan Lenka Foretova Kathleen Claes Gilles Thomas Robert N Hoover David J Hunter Stephen J Chanock Douglas F Easton Antonis C Antoniou Fergus J Couch

Recent studies have identified single nucleotide polymorphisms (SNPs) that significantly modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Since these risk modifiers were originally identified as genetic risk factors for breast cancer in genome-wide association studies (GWASs), additional risk modifiers for BRCA1 and BRCA2 may be identified from promising signals discovered in bre...

Journal: :Journal of the National Cancer Institute 1999
W Burke N Press L Pinsky

The article by Peto et al. (1) in this issue of the Journal reports a low prevalence of BRCA1 and BRCA2 gene mutations among women with early-onset breast cancer. It also provides new information about the complexity of breast cancer genetics: The study results indicate that increased cancer risk among relatives of affected women is only rarely attributable to BRCA1 and BRCA2 mutations and ofte...

2004
Rodney J Scott

Mutations in BRCA1 account for the majority of familial aggregations of early onset breast and ovarian cancer (~70%) and about 1/5 of all early onset breast cancer families; in contrast, mutations in BRCA2 account for a smaller proportion of breast/ovarian cancer families and a similar proportion of early onset breast cancer families. BRCA2 has also been shown to be associated with a much more ...

2016
Małgorzata Ławniczak Anna Jakubowska Andrzej Białek Jan Lubiński Katarzyna Jaworska–Bieniek Katarzyna Kaczmarek Teresa Starzyńska

BACKGROUND Gastric cancer (GC) is part of the spectrum of diseases linked to BRCA1 and BRCA2 mutations that increase the risk of breast and ovarian cancer. Data suggesting an increased risk of developing GC among BRCA1 and BRCA2 mutation carriers are based almost exclusively on indirect studies. The objective was to assess in a direct study whether there is a relationship between GC and selecte...

Journal: :Acta biochimica Polonica 2002
Ewa Grzybowska Marzena Siemińska Helena Zientek Ewa Kalinowska Jadwiga Michalska Beata Utracka-Hutka Jadwiga Rogozińska-Szczepka Maria Kaźmierczak-Maciejewska

Germline mutations in the BRCA1 or BRCA2 genes predispose their carriers to breast or/and ovary cancers during their lifetime. The most frequent mutations: 5382insC, 185delAG, C61G and 4153delA in BRCA1, and 6174delT and 9631delC in BRCA2 were studied in a group of 148 probands admitted for genetic counseling, using allele-specific amplification (ASA) PCR test. Fifteen carriers of three differe...

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