نتایج جستجو برای: brca mutation

تعداد نتایج: 292614  

Journal: :Perspectives in biology and medicine 2015
Amy Boesky

This essay explores the reparative work of diagnostic retellings in breast cancer and BRCA memoirs (memoirs written by women who learn they carry a mutation predisposing them to develop breast or ovarian cancers). It considers four memoirists (Felicia Knaul, Melanie Norton, Masha Gessen, and Sarah Gabriel) as they illuminate initial moments of "finding out"--learning they have cancer or have te...

Journal: :Annals of internal medicine 2014
Virginia A Moyer

DESCRIPTION Update of the 2005 U.S. Preventive Services Task Force (USPSTF) recommendation on genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility. METHODS The USPSTF reviewed the evidence on risk assessment,genetic counseling, and genetic testing for potentially harmful BRCA mutations in asymptomatic women with a family history of breast or ovarian c...

Journal: :The breast journal 2004
Alan J Stolier George M Fuhrman Lynnette Mauterer John S Bolton Duane W Superneau

Despite an abundance of information available for dealing with patients with BRCA-1 and BRCA-2 mutations, little guidance is available to assist the surgeon in dealing with the genetically high-risk patient recently diagnosed with breast cancer. A retrospective review was undertaken of 170 patients who underwent genetic counseling and testing over a 3-year period from March 2000 to March 2003. ...

2015
Colin A. Ross

The risk of developing breast cancer by age 50 in BRCA-positive women has increased from 24% in women born before 1940 to 67% in women born after 1940. This observation points to an increase in one or more environmental promoters through the course of the twentieth century. Extrapolating backwards, it is possible that, in the nineteenth century, a BRCA mutation conferred minimal increased risk ...

Journal: :International Surgery Journal 2022

Background: Breast cancer is one of the most common cancers among women around world. Some occult breast can be missed when using ultrasound or mammogram alone. Considering this background, study was performed to highlight improved diagnostic efficacy identifying both and as a combined modality.Methods: A total 150 cases suspected were studied over period 2 years. Ultrasonography, mammography d...

Journal: :Human reproduction 2010
Gwendolyn P Quinn Susan T Vadaparampil Cheryl A Miree Ji-Hyun Lee Xiuhua Zhao Susan Friedman Susan Yi James Mayer

BACKGROUND Pre-implantation genetic diagnosis (PGD) is an assisted reproductive technology procedure which provides parents with the option of conducting genetic analyses to determine if a mutation is present in an embryo. Though studies have discussed perceptions of PGD from a general population, couples or high-risk women, no studies to date have specifically examined PGD usage among men. Thi...

2016
Nicoletta Biglia Paola Sgandurra Valentina Elisabetta Bounous Furio Maggiorotto Eleonora Piva Emanuele Pivetta Riccardo Ponzone Barbara Pasini

OBJECTIVES To compare clinical-pathological characteristics and outcome between sporadic ovarian cancer and ovarian cancer in patents with hereditary breast and ovarian cancer syndrome (HBOC). METHODS Twenty-four patients with ovarian cancer treated between 2000 and 2009 who tested positive for BRCA1/2 mutation (BRCA+) and a control group of 64 age-matched patients with no family history of b...

Journal: :The oncologist 2012
Georgios Rigakos Evangelia Razis

Ovarian cancer is the leading cause of death among gynecological cancers. It exhibits great heterogeneity in tumor biology and treatment response. Germline mutations of DNA repair genes BRCA1/2 are the fundamental defects in hereditary ovarian cancer that expresses a distinct phenotype of high response rates to platinum agents, improved disease-free intervals and survival rates, and high-grade ...

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 2011
Ana M Gonzalez-Angulo Kirsten M Timms Shuying Liu Huiqin Chen Jennifer K Litton Jennifer Potter Jerry S Lanchbury Katherine Stemke-Hale Bryan T Hennessy Banu K Arun Gabriel N Hortobagyi Kim-Anh Do Gordon B Mills Funda Meric-Bernstam

PURPOSE To investigate the incidence of germline and somatic BRCA1/2 mutations in unselected patients with triple-negative breast cancer (TNBC) and determine the prognostic significance of carrying a mutation. METHODS DNA was obtained from 77 TNBC and normal tissues. BRCA1/2 exons/flanking regions were sequenced from tumor and patients classified as mutant or wild type (WT). Sequencing was re...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید