Results 211 to 220 of about 35,907 (256)

BRCA mutations

Indian Journal of Cancer, 2022
Ovarian cancer (OC) is one of the most lethal gynecological cancers with a 5-year survival rate that ranges from 30% to 40%. Breast cancer genes (BRCA1 and BRCA2) play a key role in maintaining genomic stability. Mutations in BRCA1/2 genes lead to the accumulation of double-strand breaks, resulting in tumorigenesis.
Vineet, Talwar, Amit, Rauthan
openaire   +2 more sources

Estimate of the penetrance of BRCA mutation and the COS software for the assessment of BRCA mutation probability

Familial Cancer, 2014
We have designed the user-friendly COS software with the intent to improve estimation of the probability of a family carrying a deleterious BRCA gene mutation. The COS software is similar to the widely-used Bayesian-based BRCAPRO software, but it incorporates improved assumptions on cancer incidence in women with and without a deleterious mutation ...
Jacopo, Berrino, Franco, Berrino, Silvia, Francisci, Bernard, Peissel, Jacopo, Azzollini, Valeria, Pensotti, Paolo, Radice, Patrizia, Pasanisi, Siranoush, Manoukian   +8 more
openaire   +2 more sources

Selecting Patients with Ovarian Cancer for Germline BRCA Mutation Testing: Findings from Guidelines and a Systematic Literature Review

Advances in Therapy, 2016
One of the most significant risk factors for the development of ovarian cancer (OC) is a genetic mutation in BRCA1 (breast cancer gene 1) or BRCA2.
Diana Eccles, Judith Balmaña, Birgit Ehlken   +2 more
exaly   +2 more sources

Doubling Down on BRCA -Mutated Cancer

Trends in Cancer, 2017
Immunotherapy is changing the landscape of cancer treatment. Nonetheless, not all malignancies respond, possibly due to low mutational load. Recent work in a TP53-/-BRCA1-mutant murine breast cancer model indicates that double blockade with two immune checkpoint inhibitors increases the number of tumor-infiltrating lymphocytes and overall survival ...
Andrea E, Wahner Hendrickson, Scott H, Kaufmann, Elizabeth M, Swisher   +2 more
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BRCA mutations: is everything said?

Breast Cancer Research and Treatment, 2018
Mutations in the BRCA1 and BRCA2 genes constitute a risk factor for breast cancer development. BRCA mutation research has been an active field since the discovery of the genes, and new mutations in both genes are constantly described and classified according to several systems.We intend to provide an overview of the current state of BRCA1 and BRCA2 ...
Eduardo López-Urrutia, Victor Salazar-Rojas, Luis Brito-Elías, Misael Coca-González, Jonathan Silva-García, David Sánchez-Marín, Alma D. Campos-Parra, Carlos Pérez-Plasencia   +7 more
openaire   +2 more sources

Risk of Endometrial Carcinoma Associated with BRCA Mutation

Gynecologic Oncology, 2001
Inherited mutations in the BRCA1 or BRCA2 genes are associated with a greatly increased lifetime risk of breast and ovarian cancers and a modestly increased risk of several other cancer types. Several case reports of endometrial carcinoma in women with a BRCA mutation have led to speculation regarding the effect of these genes on the risk of ...
D A, Levine, O, Lin, R R, Barakat, M E, Robson, D, McDermott, L, Cohen, J, Satagopan, K, Offit, J, Boyd   +8 more
openaire   +2 more sources

Variability in Cancer Risk with BRCA Mutations

Cancer Discovery, 2015
Abstract A large systematic analysis of BRCA1 and BRCA2 mutations in women shows that mutation location and type is associated with significant variation in the risk for breast and ovarian cancers.
openaire   +2 more sources

BRCA mutations: An Appalachian experience

Journal of Clinical Oncology, 2006
20111 Background: BRCA1 and 2 mutations are rare in general population and women with these mutations confer a significantly increased risk of invasive breast and ovarian cancer (65% to 85%, and 15% to 65% cumulative lifetime risk, respectively). A few of these are variant mutations also known as Variant of unknown significance (VUS).
M. A. Mirza, A. Sehbai, T. Nestor, V. Brown, J. Abraham   +4 more
openaire   +1 more source