Relevant bibliographies by topics / BRCA1

Academic literature on the topic 'BRCA1'

Author: Grafiati
Published: 4 June 2021
Last updated: 10 March 2023

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Contents

Consult the lists of relevant articles, books, theses, conference reports, and other scholarly sources on the topic 'BRCA1.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Journal articles on the topic "BRCA1"

1

Friedlander, Michael, Kathleen N. Moore, Nicoletta Colombo, Giovanni Scambia, Byoung-Gie Kim, Ana Oaknin, Alla Sergeevna Lisyanskaya, et al. "Efficacy of maintenance olaparib for newly diagnosed, advanced ovarian cancer patients (pts) by BRCA1 or BRCA2 mutation in the phase III SOLO1 trial." Journal of Clinical Oncology 37, no. 15_suppl (May 20, 2019): 5551. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.5551.

Full text
Abstract:
5551 Background: In SOLO1 (NCT01844986), maintenance olaparib resulted in a significant improvement in progression-free survival (PFS) for newly diagnosed, BRCA1- and/or BRCA2-mutated, advanced ovarian cancer pts compared with placebo (HR 0.30, 95% CI 0.23–0.41; median not reached vs 13.8 months; Moore et al. N Engl J Med 2018). We investigated PFS in SOLO1 for the subgroups of pts with BRCA1 mutations ( BRCA1m) or BRCA2 mutations ( BRCA2m). Methods: All pts were in clinical complete or partial response to platinum-based chemotherapy and were randomized to maintenance olaparib (300 mg twice daily; tablets) or placebo. After 2 years, pts with no evidence of disease discontinued study treatment, but pts with evidence of disease could continue study treatment. PFS by BRCAm was a predefined analysis. BRCAm were identified by central germline (Myriad or BGI) or local testing; Foundation Medicine testing confirmed tumor BRCAm. Results: Median follow-up for PFS was ~41 months in the olaparib and placebo arms. Of 391 randomized pts, 282 had BRCA1m (72%), 106 had BRCA2m (27%) and three (1%) had both (Table). Two pts in the olaparib arm had somatic BRCAm (one BRCA1m, one BRCA2m); all others had germline BRCAm. At the primary data cut-off, 155 pts in the BRCA1-mutated group (55%), 43 in the BRCA2-mutated group (41%) and none in the BRCA1/2 -mutated group had disease progression. The percentage of BRCA1-mutated pts who received olaparib and were progression-free at 1, 2 and 3 years was 86%, 69% and 53% (vs 52%, 36% and 26% receiving placebo) and for BRCA2-mutated pts was 92%, 85% and 80% (vs 50%, 32% and 29%, respectively). Conclusions: Significant PFS benefit with olaparib versus placebo was demonstrated for all pts, regardless of whether they had BRCA1m or BRCA2m. Statistical tests were not used to compare BRCA1- and BRCA2-mutated pts, but those with BRCA2m appeared to receive greater benefit from maintenance olaparib than those with BRCA1m. Clinical trial information: NCT01844986. [Table: see text]
APA, Harvard, Vancouver, ISO, and other styles
2

Zhang, Yinuo. "BRCA1, BRCA2 and primary ovarian insufficiency." E3S Web of Conferences 165 (2020): 05009. http://dx.doi.org/10.1051/e3sconf/202016505009.

Full text
Abstract:
BRCA1 and BRCA2 genes belong to the family of ataxia-telangiectasia-mutated (ATM)-mediated DNA DSB repair genes that play a critical role in the DNA double-strand break (DSB) repair. Mutations in BRCA genes significantly increase the lifetime risk of breast, ovarian, fallopian tube and primary peritoneal cancers. In addition to the increased risk for multiple malignancies, recent literature suggest that mutations in BRCA genes could lead to decreased ovarian reserve and subsequent ovarian aging. In this review, we will focus on role of BRCA1 and BRCA2 in ovarian function, particularly ovarian aging and primary ovarian insufficiency. Serum AMH values are generally lower in BRCA1 mutation carriers but not in BRCA2 mutation carriers. BRCA2 carriers were more likely to have chemotherapy-induced amenorrhea DNA not stable, linking with ovarian aging. The mechanism by which BRCAs mutation in the pathogenesis of POI is the inpaired function of repairing DNA breaks. Future studies investigating the knockout models to elucidate the role of the BRCAs genes in ovarian development and oocyte maturation will be interesting.
APA, Harvard, Vancouver, ISO, and other styles
3

Shao, Changxia, Michael S. Chang, Fred C. Lam, Andrew R. Marley, Huilin Tang, Yiqing Song, Chelsey Miller, et al. "A Systematic Review and Meta-Analysis on the Prognostic Value of BRCA Mutations, Homologous Recombination Gene Mutations, and Homologous Recombination Deficiencies in Cancer." Journal of Oncology 2022 (July 20, 2022): 1–12. http://dx.doi.org/10.1155/2022/5830475.

Full text
Abstract:
Patients with BRCA1/2 mutations (BRCAm), loss-of-function mutations in other homologous recombination repair (HRRm) genes, or tumors that are homologous recombination deficiency positivity (HRD+) demonstrate a robust response to PARPi therapy. We conducted a systematic literature review and meta-analysis to evaluate the prognostic value of BRCAm, HRRm, and HRD+ on overall survival (OS) among those treated by chemotherapy or targeted therapy other than PARPi across tumor types. A total of 135 eligible studies were included. Breast cancer (BC) patients with BRCA1/2m had a similar overall survival (OS) to those with wild-type BRCA1/2 (BRCA1/2 wt) across 18 studies. Ovarian cancer (OC) patients with BRCA1/2m had a significantly longer OS than those with BRCA1/2 wt across 24 studies reporting BRCA1m and BRCA2m, with an HR of 0.7 (0.6–0.8). Less OS data were reported for other tumors: 6 studies for BRCA2m compared with BRCA2 wt in prostate cancer with an HR of 1.9 (1.1–3.2) and 2 studies for BRCA1/2m compared with BRCA1/2 wt in pancreatic cancer with an HR of 1.5 (0.8–3.1). Only 4 studies reported HRD+ by either BRCA m or genomic instability score (GIS) ≥ 42 and OS by HRD status. The HR was 0.67 (0.43–1.02) for OS with HRD+ vs. HRD−. A total of 15 studies reported the association between HRRm and OS of cancers in which one or more HRR genes were examined. The HR was 1.0 (0.7–1.4) comparing patients with HRRm to those with HRR wild-type across tumors. Our findings are useful in improving the precision and efficacy of treatment selection in clinical oncology.
APA, Harvard, Vancouver, ISO, and other styles
4

Richters, Lisa Katharina, Philip C. Schouten, Stefan Kommoss, Jan Hauke, Alexander Burges, Dimo Dietrich, Ahmed El-Balat, et al. "BRCA-like classification in ovarian cancer: Results from the AGO-TR1-trial." Journal of Clinical Oncology 35, no. 15_suppl (May 20, 2017): 5546. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.5546.

Full text
Abstract:
5546 Background: BRCA associated cancers show a distinct pattern of genomic gains and losses that is associated with impaired repair of DNA double-strand breaks via homologous recombination (HR). We investigated whether BRCA1- and BRCA2-like classifiers could predict BRCA1 and BRCA2 mutation status in ovarian cancer. In addition, we explored whether promoter hypermethylation or mutations in other genes involved in DNA repair associate with a BRCA-like profile in ovarian cancer. Methods: The AGO-TR1 cohort study (NCT02222883 ) enrolled 525 consecutive patients with primary (PR) and platinum sensitive relapsed (RE) ovarian cancer to perform paired mutational analysis of germline and tumor tissue. We performed mutation panel sequencing, BRCA1 promoter hypermethylation and low-coverage whole genome sequencing to classify samples as BRCA1-like or BRCA2-like in 298 ovarian cancer samples (PR: n = 159, RE: n = 139). Results: A BRCA-like profile was observed in 58.1% of the samples without germline or somatic mutation in BRCA1/2 (n = 179; BRCA1-like: n = 26, BRCA2-like: n = 23, BRCA1- and 2-like: n = 55). There was no significant difference between PR- and RE-cases (54.5% vs 61.3%). 64 of 70 BRCA1 germline mutation carriers could be identified by the BRCA1-like classifier (sensitivity: 0.91). The BRCA2-like classifier identified BRCA2 germline mutation carrier with a sensitivity of 0.71 (17 of 24). The complementary use of both classifiers led to the detection of 22 of 25 somatic mutations in BRCA1 (16/16) or - 2 (6/9). Remarkably, 12 of 13 tumor samples from germline RAD51C mutation carriers were recognized by the BRCA1-like classifier (sensitivity: 0.92). No correlation of PALB2 mutation status (n = 7) with BRCA-like profile was observed. Of 28 tumor samples with a BRCA1 promoter hypermethylation 26 had a BRCA1-like profile (sensitivity: 0.93). Conclusions: A high number of ovarian cancer cases display a BRCA-like profile. Mutations (germline and somatic) in BRCA1, BRCA2, RAD51C as well as BRCA1 hypermethylation strongly associate with a BRCA-like profile and can explain 146 of 212 cases. Future studies will investigate whether the classifiers identify patients who benefit from HR-deficiency directed approaches beyond the BRCA mutation status. Clinical trial information: NCT02222883.
APA, Harvard, Vancouver, ISO, and other styles
5

Wang, Aifen, Robert W. Holloway, Lijuan Cui, Yan Sun, and Zihan Zhao. "Association betweenBRCA1 and BRCA2 mutations and prognosis in women with endometrial carcinoma." Journal of Clinical Oncology 37, no. 15_suppl (May 20, 2019): e17115-e17115. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.e17115.

Full text
Abstract:
e17115 Background: To evaluate the prognosis of BRCA mutation carriers compared to non-carriers and to demonstrate whether BRCA1 and BRCA2 mutation carriers present similar survival patterns among endometrial carcinomas. Methods: This data was from NCI Cancer Genome Atlas endometrial cancer database (TCGA) with pathogenic mutations in BRCA1 (58) or BRCA2 (77) or BRCA1and BRCA2 coexisted mutation (40) and non-mutation (461). We compared clinicopathologic features and prognosis of patients with BRCA1 or BRCA2 or BRCA1and BRCA2 coexisted mutation. Survival time was analyzed for the combined data using Cox proportional hazard models with BRCA1and BRCA2 as time-varying covariates. Results: We found histologic types of patients with BRCA1 or BRCA2 mutation presented more progressive than non-carriers ( p = 0.029, p= 0.029, respectively). BRCA1 or BRCA2 mutations were detected to be associated with younger patients at diagnosis ( p = 0.036, p = 0.001, respectively). BRCA2 mutation carrier was identified more advanced stage than BRCA non-carriers. Compared to patients with BRCA1 mutation, the body mass index is higher in non-carriers. Before around 100 months survival, BRCA2 mutation carriers had the most favorable overall survival (OS). OS rate of all patients with BRCA1 or BRCA2 mutation was higher than non-carriers. BRCA1 and BRCA2 mutation carriers had similar OS. Around 100 months later, BRCA1 carriers had more favorable OS than patients with BRCA2 mutation, BRCA1 / BRCA2 coexisted mutation and non-carriers ( p < 0.001). Patients with BRCA2 mutation had the most favorable progression-free survival (PFS), following by BRCA1 and BRCA2 coexisted mutation and BRCA2 alteration carriers ( p= 0.011). BRCA non-carriers had the worst PFS and OS all the time. Conclusions: BRCA1 or BRCA2 mutation carriers have favorable overall survival and progression-free survival among patients with endometrial carcinoma. [Table: see text]
APA, Harvard, Vancouver, ISO, and other styles
6

Labidi-Galy, Sana Intidhar, Manuel Rodrigues, Jose L. Sandoval, Jean Emmanuel Kurtz, Florian Heitz, Anna Maria Mosconi, Ignacio Romero, et al. "Efficacy of maintenance olaparib plus bevacizumab in patients with newly diagnosed advanced ovarian cancer according to BRCA mutation genotype in the phase III PAOLA-1/ENGOT-ov25 trial." Journal of Clinical Oncology 40, no. 16_suppl (June 1, 2022): 5571. http://dx.doi.org/10.1200/jco.2022.40.16_suppl.5571.

Full text
Abstract:
5571 Background: In the Phase III PAOLA-1/ENGOT-ov25 trial, the addition of maintenance olaparib (ola) to bevacizumab (bev) in patients (pts) with newly diagnosed advanced high-grade ovarian cancer (HGOC) resulted in prolonged progression-free survival (PFS), particularly for pts with HRD-positive tumors including a BRCA1/ BRCA2 mutation (BRCAm; Ray-Coquard et al. NEJM 2019). Preclinical data suggest that pts with mutations (mut) in the RING domain of BRCA1 are less sensitive to ola. The magnitude of benefit from ola + bev, according to the location of mut in the functional domains (FD) of BRCA , remains to be explored. Methods: Pts with newly diagnosed advanced HGOC in response after platinum-based chemotherapy + bev received maintenance bev (15 mg/kg q3w for 15 months [mo]) + either ola (300 mg bid for 24 mo) or placebo (pbo). In this post hoc exploratory analysis, PFS was analyzed in pts with BRCAm according to mut location in the FDs of BRCA1 (RING, DNA-binding domain [DNA-BD], or BRCA1 C terminus [BRCT]) and BRCA2 (RAD51-BD; DNA-BD). Results: Among the 806 randomized pts, 235 (29.2%) harbored a BRCAm: 160 (19.9%) with a BRCA1 mut and 76 (9.4%) with a BRCA2 mut. BRCA1 mut in FDs of RING, DNA-BD and BRCT were detected in 19 (11.8%), 41 (25.6%) and 34 (21.2%) pts, respectively. BRCA2 mut were detected in FDs of RAD51-BD and DNA-BD in 37 (48.7%) and 14 (18.4%) pts, respectively. With a median follow-up of 25.5 mo, 24-mo PFS rates and hazard ratios (HRs) according to mut locations are reported in the Table. In pts with a BRCA1 DNA-BD mut, 24-mo PFS was 89% and 14% (ola + bev vs pbo + bev; HR 0.08, 95% confidence interval [CI] 0.02–0.26) compared with 64% and 24% for pts with mut in RING + BRCT + other domains (HR 0.33, 95% CI 0.19–0.57). In pts with BRCA2 mut, 24-mo PFS for pts with mut in the DNA-BD was 91% vs 100% (ola + bev vs pbo + bev) compared with 82% and 44% for pts with mut in RAD51-BD + other domains (HR 0.21, 95% CI 0.08–0.54). Conclusions: In this exploratory analysis, pts with newly diagnosed advanced HGOC and a BRCAm had a PFS benefit from maintenance ola + bev regardless of mut locations in BRCA1/BRCA2. Sensitivity to ola + bev maintenance was particularly high for pts with mut in the DNA-BD of BRCA1. Pts with a mut in the DNA-BD of BRCA2 commonly had excellent outcomes. Clinical trial information: NCT02477644. [Table: see text]
APA, Harvard, Vancouver, ISO, and other styles
7

Labidi-Galy, Sana Intidhar, Manuel Rodrigues, Jose L. Sandoval, Jean Emmanuel Kurtz, Florian Heitz, Anna Maria Mosconi, Ignacio Romero, et al. "Efficacy of maintenance olaparib plus bevacizumab in patients with newly diagnosed advanced ovarian cancer according to BRCA mutation genotype in the phase III PAOLA-1/ENGOT-ov25 trial." Journal of Clinical Oncology 40, no. 16_suppl (June 1, 2022): 5571. http://dx.doi.org/10.1200/jco.2022.40.16_suppl.5571.

Full text
Abstract:
5571 Background: In the Phase III PAOLA-1/ENGOT-ov25 trial, the addition of maintenance olaparib (ola) to bevacizumab (bev) in patients (pts) with newly diagnosed advanced high-grade ovarian cancer (HGOC) resulted in prolonged progression-free survival (PFS), particularly for pts with HRD-positive tumors including a BRCA1/ BRCA2 mutation (BRCAm; Ray-Coquard et al. NEJM 2019). Preclinical data suggest that pts with mutations (mut) in the RING domain of BRCA1 are less sensitive to ola. The magnitude of benefit from ola + bev, according to the location of mut in the functional domains (FD) of BRCA , remains to be explored. Methods: Pts with newly diagnosed advanced HGOC in response after platinum-based chemotherapy + bev received maintenance bev (15 mg/kg q3w for 15 months [mo]) + either ola (300 mg bid for 24 mo) or placebo (pbo). In this post hoc exploratory analysis, PFS was analyzed in pts with BRCAm according to mut location in the FDs of BRCA1 (RING, DNA-binding domain [DNA-BD], or BRCA1 C terminus [BRCT]) and BRCA2 (RAD51-BD; DNA-BD). Results: Among the 806 randomized pts, 235 (29.2%) harbored a BRCAm: 160 (19.9%) with a BRCA1 mut and 76 (9.4%) with a BRCA2 mut. BRCA1 mut in FDs of RING, DNA-BD and BRCT were detected in 19 (11.8%), 41 (25.6%) and 34 (21.2%) pts, respectively. BRCA2 mut were detected in FDs of RAD51-BD and DNA-BD in 37 (48.7%) and 14 (18.4%) pts, respectively. With a median follow-up of 25.5 mo, 24-mo PFS rates and hazard ratios (HRs) according to mut locations are reported in the Table. In pts with a BRCA1 DNA-BD mut, 24-mo PFS was 89% and 14% (ola + bev vs pbo + bev; HR 0.08, 95% confidence interval [CI] 0.02–0.26) compared with 64% and 24% for pts with mut in RING + BRCT + other domains (HR 0.33, 95% CI 0.19–0.57). In pts with BRCA2 mut, 24-mo PFS for pts with mut in the DNA-BD was 91% vs 100% (ola + bev vs pbo + bev) compared with 82% and 44% for pts with mut in RAD51-BD + other domains (HR 0.21, 95% CI 0.08–0.54). Conclusions: In this exploratory analysis, pts with newly diagnosed advanced HGOC and a BRCAm had a PFS benefit from maintenance ola + bev regardless of mut locations in BRCA1/BRCA2. Sensitivity to ola + bev maintenance was particularly high for pts with mut in the DNA-BD of BRCA1. Pts with a mut in the DNA-BD of BRCA2 commonly had excellent outcomes. Clinical trial information: NCT02477644. [Table: see text]
APA, Harvard, Vancouver, ISO, and other styles
8

Ponce, Jordi, Sergi Fernandez-Gonzalez, Iris Calvo, Maite Climent, Judith Peñafiel, Lidia Feliubadaló, Alex Teulé, et al. "Assessment of ovarian reserve and reproductive outcomes in BRCA1 or BRCA2 mutation carriers." International Journal of Gynecologic Cancer 30, no. 1 (November 27, 2019): 83–88. http://dx.doi.org/10.1136/ijgc-2019-000626.

Full text
Abstract:
IntroductionThe clinical impact on fertility in carriers of BRCA1 and BRCA2 mutations remains unclear. The aim of this study was to assess ovarian reserve as measured by anti-mullerian hormone levels in BRCA1 or BRCA2 mutation carriers, as well as to investigate the impact of anti-mullerian hormone levels on reproductive outcomes.MethodsThe study involved a cohort of women who tested positive for BRCA1 and BRCA2 screening or were tested for a BRCA1 or BRCA2 family mutation. Blood samples were collected for anti-mullerian hormone analysis and the reproductive outcomes were analyzed after a mean follow-up of 9 years. Participants were classified into BRCA mutation-positive versus BRCA mutation-negative. Controls were healthy relatives who tested negative for the family mutation. All patients were contacted by telephone to collect data on reproductive outcomes. Linear regression was used to predict anti-mullerian hormone levels by BRCA status adjusted for a polynomial form of age.ResultsResults of anti-mullerian hormone analysis and reproductive outcomes were available for 135 women (BRCA mutation-negative, n=66; BRCA1 mutation-positive, n=32; BRCA2 mutation-positive, n=37). Anti-mullerian hormone curves according to BRCA status and adjusted by age showed that BRCA2 mutation-positive patients have lower levels of anti-mullerian hormone as compared with BRCA-negative and BRCA1 mutation-positive. Among the women who tried to conceive, infertility was observed in 18.7% of BRCA mutation-negative women, in 22.2% of BRCA1 mutation-positive women, and in 30.8% of BRCA2 mutation-positive women (p=0.499). In the multivariable analysis, there were no factors independently associated with infertility.DiscussionBRCA2 mutation-positive carriers showed more diminished anti-mullerian hormone levels than BRCA1 mutation-positive and BRCA mutation-negative women. However, these differences do not appear to have a negative impact on reproductive outcome. This is important to consider at the time of reproductive counseling in women with BRCA1 or BRCA2 mutations.
APA, Harvard, Vancouver, ISO, and other styles
9

Sy, Shirley M. H., Michael S. Y. Huen, and Junjie Chen. "PALB2 is an integral component of the BRCA complex required for homologous recombination repair." Proceedings of the National Academy of Sciences 106, no. 17 (April 15, 2009): 7155–60. http://dx.doi.org/10.1073/pnas.0811159106.

Full text
Abstract:
Mutations in breast cancer susceptibility gene 1 and 2 (BRCA1 and BRCA2) predispose individuals to breast and ovarian cancer development. We previously reported an in vivo interaction between BRCA1 and BRCA2. However, the biological significance of their association is thus far undefined. Here, we report that PALB2, the partner and localizer of BRCA2, binds directly to BRCA1, and serves as the molecular scaffold in the formation of the BRCA1-PALB2-BRCA2 complex. The association between BRCA1 and PALB2 is primarily mediated via apolar bonding between their respective coiled-coil domains. More importantly, BRCA1 mutations identified in cancer patients disrupted the specific interaction between BRCA1 and PALB2. Consistent with the converging functions of the BRCA proteins in DNA repair, cells harboring mutations with abrogated BRCA1-PALB2 interaction resulted in defective homologous recombination (HR) repair. We propose that, via its direct interaction with PALB2, BRCA1 fine-tunes recombinational repair partly through its modulatory role in the PALB2-dependent loading of BRCA2-RAD51 repair machinery at DNA breaks. Our findings uncover PALB2 as the molecular adaptor between the BRCA proteins, and suggest that impaired HR repair is one of the fundamental causes for genomic instability and tumorigenesis observed in patients carrying BRCA1, BRCA2, or PALB2 mutations.
APA, Harvard, Vancouver, ISO, and other styles
10

Arun, Banu, Angelica Gutierrez Barrera, Rachel M. Layman, Stephen K. Gruschkus, Isabelle Bedrosian, Constance T. Albarracin, Carlos Hernando Barcenas, Vicente Valero, Jennifer Keating Litton, and Debu Tripathy. "Outcome of patients with breast cancer and a germline BRCA mutation in a prospective cohort." Journal of Clinical Oncology 38, no. 15_suppl (May 20, 2020): 1544. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.1544.

Full text
Abstract:
1544 Background: There are limited large prospective single institution studies on outcome of breast cancer in patients with germline BRCA1 and BRCA2 mutation. The primary aim of this study was to determine the effect of a germline BRCA1 or BRCA2 mutation on recurrence-free survival (RFS) and overall survival (OS) in patients with breast cancer. Methods: This is a prospective cohort study of patients with invasive breast cancer recruited from the UT MD Anderson Cancer Center Breast Medical Oncology and Clinical Cancer Genetics Center. For the purpose of this analysis, newly diagnosed breast cancer patients who have had germline BRCA1 and BRCA2 testing within 12 months were included. Clinical and pathological data, and data regarding outcomes were collected in this prospective cohort. The Kaplan-Meier method and corresponding log-rank test were used to estimate OS and RFS and to compare survival by mutation status. Results: Between 1996 and 2015, 3026 patients were recruited. Median age at diagnosis was 45 (19-87) years. A germline BRCA mutation was detected in 361 (11.9%) patients (207 with BRCA1, 154 with BRCA2). After a median follow-up time of 5.3 (0.04-20.7) years, 437 (14.4%) patients recurred and 340 (11.2%) were deceased. At median follow-up time 5 years, 79.3% of BRCA1, 91.4% of BRCA2 and 89.6% of BRCA negative patients were disease free; this difference was significant (p = 0.0001). Difference in OS between BRCA1/2-positive and BRCA-negative patients was also significant (p = 0.0001), with 81.2% of BRCA1, 93.4% of BRCA2 and 90% of BRCA negative patients being alive at 5 years. Amongst 600 patients with triple negative breast cancer (TNBC) patients, DFS and OS were not significantly different between the 3 groups. Of those patients diagnosed under 40 years (n = 937), RFS and OS was significantly different between 3 groups at 5 years (0.001 for RFS and OS); 75% BRCA1, 92% BRCA2 and 86% BRCA negative patients were disease free and 77% BRCA1, 94% BRCA2 and 88% BRCA negative patients were alive. Conclusions: Patients with BRCA1 or BRCA2 mutations have different survival outcomes. The prognosis of the first cancer needs to be taken into consideration when deciding for preventive surgeries to prevent second primary breast cancers in these patients. Furthermore, for BRCA1 mutation carriers more effective therapy strategies need to be evaluated to improve outcome.
APA, Harvard, Vancouver, ISO, and other styles
More sources

Dissertations / Theses on the topic "BRCA1"

1

Mohr, Christina. "BRCA1- und BRCA2-Mutationsträger." Diss., Ludwig-Maximilians-Universität München, 2014. http://nbn-resolving.de/urn:nbn:de:bvb:19-172139.

Full text
APA, Harvard, Vancouver, ISO, and other styles
2

Mavaddat, Nasim. "Risk modelling in BRCA1 and BRCA2 mutation carriers." Thesis, University of Cambridge, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.610839.

Full text
APA, Harvard, Vancouver, ISO, and other styles
3

Batista, Rui Pedro Monteiro. "Caracterização das mutações dos genes BRCA1 e BRCA2." Master's thesis, Universidade de Aveiro, 2012. http://hdl.handle.net/10773/10136.

Full text
Abstract:
Mestrado em Biologia Molecular e Celular
O cancro da mama é o tipo de neoplasia maligna mais incidente nas mulheres a nível mundial. Na maior parte dos casos tem origem esporádica, mas estima-se que cerca de 7% tem origem hereditária, relacionada com a herança genética de alguma mutação patogénica em genes de suscetibilidade para este cancro. A causa mais frequente de cancro hereditário da mama/ovário é a alteração de um dos genes BRCA (BRCA1 ou BRCA2). De fato as mutações germinativas destes genes são responsáveis por cerca de 50% dos casos de cancro hereditário da mama e/ou ovário. São ainda poucos os dados referentes ao perfil de mutações destes genes na população portuguesa, para além da descrição de uma mutação fundadora no gene BRCA2. Pretendeu-se com o presente estudo caracterizar, numa amostra de doentes portugueses com suspeita de cancro hereditário da mama/ovário, as mutações destes dois genes, avaliando os diferentes tipos de mutações encontradas, a prevalência de mutações comprovadamente patogénicas e, nomeadamente da mutação fundadora portuguesa. Pretendeu-se também testar o algoritmo de cálculo BRCAPro® no auxílio ao recrutamento para estudo genético de pacientes com suspeita de HBOC. Dos 121 casos estudados por DGGE/sequenciação direta/MLPA, foram detetados 42 casos (34,7%) com alterações num dos BRCA’s (excluindo polimorfismos), correspondendo a 42-45 alelos mutados. No entanto, apenas 8,3% dos casos continham mutações comprovadamente patogénicas, representando a mutação fundadora portuguesa 40% das mesmas. Comparativamente a outros estudos na população portuguesa, a prevalência de mutações patogénicas no nosso estudo foi inferior, com uma sobrerepresentação da mutação fundadora, o que poderá ser explicado por diferentes critérios de referenciação e/ou composição das amostras estudadas. O algoritmo BRCAPro® revelou-se útil como instrumento de cálculo de probabilidade de mutação patogénica nos genes BRCA1 e BRCA2, embora não permita substituir o critério médico na de seleção de pacientes para estudo genético destes genes.
Breast cancer is the type most common malignant neoplasm in women worldwide. In most cases arises sporadically, but it is estimated that about 7% have a hereditary origin, related to the genetic inheritance of some pathogenic mutation in susceptibility genes for this cancer. The most frequent cause of hereditary breast/ovarian cancer is an alteration in one of the two BRCA genes, the BRCA1 and BRCA2. Germline mutations in these two genes are responsible for about 50% of cases with hereditary breast and ovarian cancer. Currently, few data is available referring to the mutation profile in the Portuguese population, besides the identification of a founder mutation in the BRCA2 gene. It was intended with this study to characterize, in a sample constituted of patients with suspicion of hereditary breast/cancer, mutations of these two genes, evaluating the different types of mutations found, the prevalence of pathogenic mutations, particularly the Portuguese founder mutation. It was also intended to test the algorithm BRCAPro®, in the aid of recruitment of patients for genetic testing with suspected HBOC. Of the 121 cases studied by DGGE/direct sequencing/MLPA, we detected 42 cases (34,7%) containing alterations in one of the BRCA genes (excluding polymorphisms), corresponding to 42-45 mutated alleles. After analysis, only 8.3% of the cases had deleterious mutations, with the founder Portuguese mutation representing 40% of those. Comparing to other studies in the Portuguese population, the prevalence of pathogenic mutations found in this study was smaller, with an overexpression of the Portuguese founder mutation. That can be explained by the use of different clinical criteria in the recruitment of patients for genetic study and/or differences in the composition of the cohort of cases. The BRCAPro® algorithm as proved useful as a tool for the calculation of mutation probability in the BRCA1 and BRCA2 genes, although it doesn’t allow to substitute the medical criteria in the selection of patients for genetic study in this two genes.
APA, Harvard, Vancouver, ISO, and other styles
4

Thompson, Deborah Jane. "Cancer risks in BRCA1 and BRCA2 mutation carriers." Thesis, University of Cambridge, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.620568.

Full text
APA, Harvard, Vancouver, ISO, and other styles
5

Hadjisavvas, Andreas. "BRCA1, BRCA2 molecular study of Cypriot breast cancer patients." Thesis, Brunel University, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.250211.

Full text
APA, Harvard, Vancouver, ISO, and other styles
6

Ginolhac, Sophie. "Facteurs génétiques modificateurs du risque de cancer du sein et de l'ovaire chez les femmes porteuses d'une mutation constitutionnelle des gènes BRCA1 ou BRCA 2." Lyon 1, 2003. http://www.theses.fr/2003LYO1T149.

Full text
Abstract:
La 4e de couverture indique : "Les porteuses de mutations germinales des gènes BRCA1 et BRCA2 ont un risque élevé de développer un cancer du sein et également de l'ovaire. Cependant, il existe une grande variabilité du risque tumoral chez ces porteuses qui dépend du gène en cause, de différents facteurs environnementaux, physiologiques et hormonaux mais probablement aussi de facteurs génétiques. Notre étude a eu pour objectif d'identifier certains de ces facteurs génétiques modificateurs afin d'améliorer l'évaluation du risque cancéreux individuel des porteuses de mutation BRCA et donc leur prise en charge et leur traitement. 1010 femmes porteuses de mutation BRCA ont été incluses dans cette étude. Les gènes candidats ont été sélectionnés en fonction d'hypothèses biologiques et génétiques suggérant leur implication dans la modification du risque de cancer. Dans un premier temps, nous avons analysé, chez les porteuses de mutation BRCA1, l'effet de différents variants de l'allèle sauvage de BRCA1 en considérant que ces allèles pouvaient influencer l'effet de l'allèle muté. Dans un second temps, nous nous sommes intéressés à deux gènes: un codant pour un partenaire de BRCA1 impliqué dans le métabolisme des acides gras, l'acétyl-CoA carboxylase a et un codant pour la 17ß-hydroxystéroi͏̈de déshydrogénase intervenant dans le métabolisme des œstrogènes. L'effet cis de ces gènes, situés au locus BRCA1, pourrait être à l'origine de l'association de certaines mutations BRCA1 avec un risque tumoral élevé, qu'aucune donnée biologique ne permet d'expliquer actuellement. BRCA1 et BRCA2 participent à des voies communes de signalisation cellulaire et la présence de variants sur un de ces deux gènes pourraient influencer l'activité de l'autre. Nous avons étudié l'effet de variants de BRCA2 chez les porteuses de mutation BRCA1. Enfin, le choix des deux derniers gènes, RAD51 et AIB1 s'est basé sur l'interaction de leur fonction avec celle de BRCA1 et BRCA2. En conclusion, le variant Gly1038 sur l'allèle sauvage de BRCA1 serait associé à une augmentation du risque de cancer de l'ovaire chez les porteuses de mutation BRCA1 (HR=1,5; IC 95%=1,03-2,19) et pourrait expliquer la majorité de la variabilité du risque ovarien chez ces femmes. Aucun effet significatif n'a été mis en évidence pour les autres gènes analysés. "
APA, Harvard, Vancouver, ISO, and other styles
7

Arver, Brita. "Hereditary breast/ovarian cancer : implementation of BRCA1 & BRCA2 testing /." Stockholm, 2001. http://diss.kib.ki.se/2001/91-628-4799-6/.

Full text
APA, Harvard, Vancouver, ISO, and other styles
8

Mitra, Anita. "Prostate cancer and targeted screening in BRCA1 and BRCA2 Mutation carriers." Thesis, Institute of Cancer Research (University Of London), 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.509785.

Full text
APA, Harvard, Vancouver, ISO, and other styles
9

Renwick, A. A. "Familial breast cancer : are BRCA1 and BRCA2 mutations present in Scotland?" Thesis, University of Aberdeen, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.593342.

Full text
APA, Harvard, Vancouver, ISO, and other styles
10

Zimmer, Jutta. "Roles of BRCA1 and BRCA2 in DNA replication and genome stability." Thesis, University of Oxford, 2017. https://ora.ox.ac.uk/objects/uuid:3f595c71-7b99-4133-b215-dd5d5f19463f.

Full text
Abstract:
Genomic instability is a hallmark of cancer. The tumour suppressors BRCA1 and BRCA2 play key roles in genome integrity by promoting homologous recombination DNA repair and replication fork stability. Deficiency in these functions has been described as the Achilles heel of BRCA-defective tumours. This provides an important rationale for further exploring the roles of BRCA1 and BRCA2 in DNA replication and genome stability. G-quadruplexes, alternative DNA structures formed by guanine-rich single- stranded DNA, represent natural replication fork barriers. This study demonstrates that treatment with the G-quadruplex-stabilising compound pyridostatin selectively decreases viability of BRCA1- and BRCA2-deficient cells by inducing replication stress and DNA damage. Furthermore, this work identifies a new role of the Fanconi anaemia protein FANCD2 in limiting replication fork progression and genomic instability in human cancer cells lacking BRCA2. This function of FANCD2 is vital for BRCA2-deficient cell survival and affects treatment responses. Finally, the data presented here reveal a synthetic lethal interaction between MRE11 nuclease and BRCA2. Characterisation of a novel chemical MRE11 nuclease inhibitor with activity on 2D and 3D cell culture models for BRCA2 deficiency highlights the clinical relevance for the use of MRE11 inhibitors for targeting BRCA2-deficient tumours. In summary, this report describes novel roles of BRCA1 and BRCA2 relevant for selective targeting of BRCA-deficient tumour cells.
APA, Harvard, Vancouver, ISO, and other styles
More sources

Books on the topic "BRCA1"

1

Winter, Sherry Lynn. Identification of BRCA1 interacting proteins. Ottawa: National Library of Canada, 2000.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
2

Canadian Coordinating Office for Health Technology Assessment., ed. A clinical systematic review of BRCA1 and BRCA2 genetic testing for breast and ovarian cancers. Ottawa: Canadian Coordinating Office for Health Technology Assessment, 2006.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
3

National Institutes of Health (U.S.). Clinical Center and National Institutes of Health (U.S.). Office of Clinical Center Communications, eds. Answers to your questions: Testing for BRCA1. [Bethesda, Md.?]: The Warren Grant Magnuson Clinical Center, 1996.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
4

National Institutes of Health (U.S.). Clinical Center. and National Institutes of Health (U.S.). Office of Clinical Center Communications., eds. Answers to your questions: Testing for BRCA1. [Bethesda, Md.?]: The Warren Grant Magnuson Clinical Center, 1996.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
5

Lynda, McGahan, and Canadian Coordinating Office for Health Technology Assessment, eds. BRCA1 and BRCA2 predictive genetic testing for breast and ovarian cancers: A systematic review of clinical evidence. Ottawa: CCOHTA, 2006.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
6

Reczek, Colleen Renee. The Role of CtIP in BRCA1-Mediated Tumor Suppression. [New York, N.Y.?]: [publisher not identified], 2012.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
7

Reid, Latarsha. Analysis of The RING Domain And BRCT Repeats of BRCA1. [New York, N.Y.?]: [publisher not identified], 2011.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
8

Gabriel, Sarah. Eating pomegranates: A memoir of mothers, daughters, and the BRCA gene. New York: Scribner, 2009.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
9

Gabriel, Sarah. Eating pomegranates: A memoir of mothers, daughters and genes. Rearsby: Clipper Large Print, 2010.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
10

H, Lu Karen, ed. Hereditary gynecologic cancer: Risk, prevention, and management. New York: Informa Healthcare, 2008.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
More sources

Book chapters on the topic "BRCA1"

1

Solano, Angela R., Florrcencia C. Cardoso, Pablo G. Mele, and Ernesto J. Podesta. "BRCA1 and BRCA2." In Encyclopedia of Signaling Molecules, 572–78. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-67199-4_101898.

Full text
APA, Harvard, Vancouver, ISO, and other styles
2

Wideman, Timothy H., Michael J. L. Sullivan, Shuji Inada, David McIntyre, Masayoshi Kumagai, Naoya Yahagi, J. Rick Turner, et al. "BRCA1 and BRCA2." In Encyclopedia of Behavioral Medicine, 263–64. New York, NY: Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4419-1005-9_941.

Full text
APA, Harvard, Vancouver, ISO, and other styles
3

Mose, Stephan, Stephan Mose, Brandon J. Fisher, Iris Rusu, Charlie Ma, Lu Wang, Larry C. Daugherty, et al. "BRCA1 and BRCA2." In Encyclopedia of Radiation Oncology, 64. Berlin, Heidelberg: Springer Berlin Heidelberg, 2013. http://dx.doi.org/10.1007/978-3-540-85516-3_193.

Full text
APA, Harvard, Vancouver, ISO, and other styles
4

Solano, Angela R., Florrcencia C. Cardoso, Pablo G. Mele, and Ernesto J. Podesta. "BRCA1 and BRCA2." In Encyclopedia of Signaling Molecules, 1–6. New York, NY: Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4614-6438-9_101898-1.

Full text
APA, Harvard, Vancouver, ISO, and other styles
5

Hamann, Heidi. "BRCA1 and BRCA2." In Encyclopedia of Behavioral Medicine, 303–4. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-39903-0_941.

Full text
APA, Harvard, Vancouver, ISO, and other styles
6

Kiechle, Marion. "Hereditäres Mamma- und Ovarialkarzinom: BRCA1, BRCA2 und BRCA3." In 125 Jahre Deutsche Gesellschaft für Gynäkologie und Geburtshilfe, 487–98. Berlin, Heidelberg: Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/978-3-642-15012-8_26.

Full text
APA, Harvard, Vancouver, ISO, and other styles
7

Holdenrieder, S., and P. Stieber. "BRCA1." In Springer Reference Medizin, 483–84. Berlin, Heidelberg: Springer Berlin Heidelberg, 2019. http://dx.doi.org/10.1007/978-3-662-48986-4_618.

Full text
APA, Harvard, Vancouver, ISO, and other styles
8

Holdenrieder, S., and P. Stieber. "BRCA1." In Lexikon der Medizinischen Laboratoriumsdiagnostik, 1. Berlin, Heidelberg: Springer Berlin Heidelberg, 2017. http://dx.doi.org/10.1007/978-3-662-49054-9_618-1.

Full text
APA, Harvard, Vancouver, ISO, and other styles
9

Leung, Alexander K. C., Marcus Schmitt, Christie P. Thomas, Cord Sunderkötter, Meinhard Schiller, Thomas Schwarz, Mark Berneburg, et al. "BRCA1." In Encyclopedia of Molecular Mechanisms of Disease, 245–46. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_7670.

Full text
APA, Harvard, Vancouver, ISO, and other styles
10

Venkitaraman, Ashok R. "Breast Cancer Genes BRCA1 and BRCA2." In Encyclopedia of Cancer, 510–13. Berlin, Heidelberg: Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/978-3-642-16483-5_718.

Full text
APA, Harvard, Vancouver, ISO, and other styles

Conference papers on the topic "BRCA1"

1

Gomes, Marina Macedo, and Kamylle Cynnara Tavares da Silva. "MUTAÇÃO DOS GENES BRCA1 E BRCA2 COMO ETIOLOGIA GENÉTICA DO CÂNCER DE MAMA." In XXVII Semana de Biomedicina Inovação e Ciência. Editora IME, 2021. http://dx.doi.org/10.51161/9786588884119/8.

Full text
Abstract:
Introdução: Tendo em vista que mulheres portadoras de mutações em BRCA1 ou BRCA2 apresentam um risco de câncer de mama ao longo da vida de 50% a 85%,(5) as alterações herdadas desses genes se apresentam como considerável fator de risco para o desenvolvimento dessa categoria de câncer. Logo, a compreensão dessa correlação corresponde a um importante aspecto para o manejo de famílias de alto risco para câncer de mama. Objetivos: O presente trabalho apresenta como objetivo reunir informações relacionadas a presença de mutações nos genes BRCA1 e BRCA2 como etiologia genética do câncer de mama hereditário. Métodos: Para a construção deste trabalho o conteúdo literário foi obtido, a partir, do acesso às publicações disponíveis na plataforma de busca do Google Acadêmico, encontradas mediante a utilização das palavras-chave, e oriundos de sites, como PubMed-NCBI (National Library of Medicine). Resultados: Os genes BRCA foram classificados como genes supressores de tumores, apresentam estruturas complexas com cerca de 100 Kb sendo encontrados nos braços longos dos cromossomos 17 para BRCA1 e 13 para BRCA2.(1)(2)(5) Eles codificam proteínas essenciais para reparação do DNA, indução da apoptose e regulação da atividade de outros genes, logo, quando são inativados, devido às mutações, esses mecanismos são desregulados provocando os efeitos característicos da neoplasia.(1)(2)(5) As mutações nesses genes são herdadas de maneira autossômica dominante, mas agem recessivamente no nível celular, sendo necessário, para o desenvolvimento de neoplasia, ocorrer a perda da função de ambos alelos, de modo que um alelo mutante seja herdado e o segundo silenciado por uma mutação somática.(1)(2)(3) Desse modo, os portadores necessitam de menos alterações somáticas para ocorrência da inativação das proteínas codificadas, por consequência maior probabilidade de desenvolver o câncer de mama.(1)(2)(3) Observa se, ademais, que os tumores relacionados a BRCA1 e BRCA2 diferem quanto a sua aparência histopatológica, características citológicas e arquitetônicas, tanto entre si como em relação aos cânceres esporádicos, evidenciando a possível necessidade de desenvolvimento de terapias mais específicas.(1)(4) Conclusões: Dessa forma, é possível concluir como ocorre as mutações herdadas dos genes BRCA1 e BRCA2, e sua associação com a predisposição dos portadores dessas mutações com o maior risco de desenvolvimento de câncer de mama. Com isso, para obtenção de tratamentos e prognósticos melhores, faz-se oportuna o estudo e divulgação dessa etiologia genética do câncer de mama.
APA, Harvard, Vancouver, ISO, and other styles
2

Mukhopadhyay, Asima, Nicola Curtin, and Richard Edmondson. "Evaluation of different methods to assess homologous recombination status and sensitivity to PARP inhibitors in ovarian cancer." In 16th Annual International Conference RGCON. Thieme Medical and Scientific Publishers Private Ltd., 2016. http://dx.doi.org/10.1055/s-0039-1685289.

Full text
Abstract:
Methods: Matched samples of ascites and tumor tissue were taken from patients undergoing surgery for epithelial ovarian cancer. Tumor samples were formalin fixed and paraffin embedded (FFPE); ascites samples were used to generate primary cultures (PC). HR status was determined in PCs as previously described.[1] IC50 for the PARP inhibitor Rucaparib was estimated using SRB assays. DNA was extracted from the FFPE tissue. The following techniques were evaluated in PCs or paired FFPE samples: DR-GFP reporter assay, PARP activity assay, BRCA1 expression on immunohistochemistry, BRCA1 methylation status and BRCA1/2 mutation analysis. A next generation sequencing based assay was used to detect mutations and other genomic alterations in a large panel of cancer-associated genes, including BRCA1/2. Results: Paired samples were collected from 64 patients and characterized for HR function. 47/64 (76%) were high grade serous. 44% (28/64)) were HR defective (HRD) by Rad51 assay and correlated with Rucaparib sensitivity (PPV-92%, NPV-100%). Molecular analysis revealed that all mutations and other genomic alterations detected in ascites derived PCs were also found in matched FFPE tumor tissues. All tumors with serous histology contained p53 mutations, whilst the remaining tumors without p53 mutations were non-serous in histology. DR-GFP assay was unreliable in PC due to poor transfection. In a subset of 50 cancers there was reduced BRCA1 expression in the HRD vs. HRC tumours (34.8% vs. 22.7%, ns) whilst in a further subset of 30 cases there was no difference in endogenous or stimulated PARP activity between HRD and HRC tumours. Deleterious BRCA2 mutations were identified in 7 tumors, 6 of which were HRD. Only 1 deleterious BRCA1 mutation was detected but methylation of BRCA1 was identified in 13 of 64 (20%) tumors, 7 of which were HRD. Mutation of BRCA2 was mutually exclusive to methylation of BRCA1. HRD vs. HRC tumours showed BRCA1 methylation (25% vs. 17%) and BRCA1/2 mutation (21% vs. 0.3%). 14/28 (50%) HR defective tumors do not have BRCA1/2 mutations or BRCA1 methylation, suggesting other mechanisms can also result in a HR defective phenotype. 28/64 (43%) of samples demonstrated the HR defective phenotype. In all cases HR status correlated with sensitivity to Rucaparib. Conclusion: As expected, deleterious BRCA2 mutations conferred a HRD phenotype in cells but methylation of BRCA1 was not universally associated with HRD. This may be as a result of only partial silencing of the gene by methylation and further work is required to identify thresholds of methylation which may predict HR status. The use of BRCA1/2 mutation testing alone is unlikely to identify the majority of HR defective ovarian tumors. Assessment of functional status of HRD is the preferred option and further technologies should be developed to simplify the Rad51 assay.
APA, Harvard, Vancouver, ISO, and other styles
3

Weyandt, JD, C. Snyder, HT Lynch, E. Gillanders, TN Holmes, J. Bailey-Wilson, and RE Ellsworth. "Identification of BRCA1 and BRCA2 genetic modifiers." In CTRC-AACR San Antonio Breast Cancer Symposium: 2008 Abstracts. American Association for Cancer Research, 2009. http://dx.doi.org/10.1158/0008-5472.sabcs-1040.

Full text
APA, Harvard, Vancouver, ISO, and other styles
4

Silva, Manuella Amlid Pimenta de Castro Cavalcanti, Caio Victor Barros Gonçalves da Silva, Dryelli Frances Santana da Silva, Laura Lucena Serafim, Ryan Cristian da Silva, and Celina Cavalcante Muniz Gomes. "A METILAÇÃO DO DNA COMO BIOMARCADOR NO PROGNÓSTICO E DIAGNÓSTICO DO CÂNCER OVARIANO: REVISÃO DE LITERATURA." In XXVII Semana de Biomedicina Inovação e Ciência. Editora IME, 2021. http://dx.doi.org/10.51161/9786588884119/2.

Full text
Abstract:
Introdução: O câncer ovariano é caracterizado pelo crescimento anormal de células provenientes dos ovários. Mutações no gene BRCA podem aumentar, entre 20 a 50%, o risco do paciente desenvolver câncer ovariano (1). Assim, o gene BRCA1 é expresso como autossômico dominante, com penetrância incompleta e atua como supressor de tumor, sendo importante para a reparação do DNA, pois atua na manutenção da estabilidade do genoma e no controle do ciclo celular no checkpoint (3). Desse modo, a metilação do DNA ocorre na região promotora do gene, local dos sítios CpG – sendo denominados assim pois um grupo metil é adicionado a uma citosina seguida de uma guanina – e grupos metil são adicionados ao nucleotídeo citosina (1). Portanto, a metilação do DNA é essencial na regulação da expressão gênica (3). No câncer ovariano, anomalias nesta metilação são comuns, sendo potenciais biomarcadores na detecção desta doença. Objetivos: Realizar uma revisão narrativa sobre a metilação do DNA, que ocorre nos sítios CpG do gene BRCA1, ser um importante biomarcador no prognóstico e diagnóstico do câncer ovariano. Métodos: Para esta revisão narrativa, foi realizado buscas através do Pubmed e Google Scholar,através dos descritores: “ovarian cancer”, “BRCA1”, “DNA methylation” e “biomarker”. Como critérios para a pesquisa, foram selecionados artigos de língua inglesa e publicados entre os anos de 2016 e 2021. Resultados: A análise da metilação do DNA permite a identificação de alterações na região promotora do gene, nos sítios CpG que podem estar hipermetilados – quando há o silenciamento do gene BRCA1 – ou hipometilados – quando não há o silenciamento do gene BRCA1 (2). Devido ao envolvimento da metilação do DNA com o câncer ovariano, a metilação nos sítios CpG no gene BRCA1 apresenta um alto potencial como biomarcador. Portanto, analisar anomalias na metilação do DNA, nos sítios CpG, significa que não seria necessário codificar todo o gene para identificar se há uma mutação no gene BRCA1. Um dos métodos mais conhecidos e mais utilizados é o método que envolve o bissulfito na conversão de citosina em uracila. Citosinas metiladas não serão convertidas e inúmeros métodos podem ser utilizados na identificação de CpGs que não foram convertidas (1). Conclusão: Alterações na metilação do DNA, nos sítios CpG do gene BRCA1, apresentam um alto potencial como biomarcadores, mesmo sendo algo novo na área. Portanto, mais estudos são necessários para aperfeiçoar o entendimento deste biomarcador como prognóstico e diagnóstico do câncer ovariano.
APA, Harvard, Vancouver, ISO, and other styles
5

Botesteanu, Dana-Adriana, Doron Levy, and Jung-Min Lee. "Abstract 2709: Mathematical modeling for prediction of secondary BRCA1 and BRCA2 mutations in ovarian cancers with deleterious germline BRCA1 and BRCA2 mutations." In Proceedings: AACR 107th Annual Meeting 2016; April 16-20, 2016; New Orleans, LA. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7445.am2016-2709.

Full text
APA, Harvard, Vancouver, ISO, and other styles
6

Farias, Stephanie Freire Soares de, Graziela Gama da Conceição Gomes, Biatriz Costa Diniz, CAIO DE BRITO MATOS, and MARCOS VINÍCIUS SOUZA DE ALMEIDA. "GENES RELACIONADOS AO CÂNCER DE MAMA: UM ESTUDO ACERCA DOS ONCOGENES." In I Congresso Nacional de Pesquisas e Estudos Genéticos On-line. Revista Multidisciplinar em Saúde, 2022. http://dx.doi.org/10.51161/geneticon/9136.

Full text
Abstract:
Introdução: O câncer de mama é uma patologia relacionada a mutações genéticas, como alterações patológicas em genes como: BRCA 1 e BRCA 2. De acordo com dados do Instituto Nacional do Câncer, no ano de 2022, é estimado 68.280 novos casos, número que representa uma incidência de 43,74 casos por 100 mil individuos do sexo feminino. Objetivo: entender a relação dos genes com o desenvolvimento do câncer de mama. Materiais e Métodos: foi realizado um levantamento bibliográfico nos bancos de dados online NCBI, Scielo e Lilacs, durante o mês de junho de 2022, utilizando as palavras-chaves, isoladas e combinadas na língua portuguesa: câncer de mama, oncogenes e genes. Os artigos selecionados atendem ao período de 2017 a 2022, abordando a relação de genes com o câncer de mama. Resultados e Discussões: Foram identificados 32 artigos, dos quais 5 foram selecionados. Observou-se que a incidência do câncer de mama em portadores da mutação nos genes BRCA 1 e BRCA 2 são maiores que em vítimas do câncer de mama esporádico. Além disso, apesar de raro, a hereditariedade se configura como fator de risco para o desenvolvimento desse tipo de câncer, pois mutações nos genes BRCA 1 e BRCA 2 podem estar presentes nas células germinativas. Tais genes são designados genes supressores tumorais e se encontram associados à atividade celular, por exemplo o reparo de danos ao DNA, o ajuste da expressão gênica e o comando do ciclo celular. Assim, esses genes têm correspondência e ação essencial no câncer de mama genético, já que mutações nesses genes exprimem 85% dos sucedidos de câncer de mama. Ademais, visto que os genes BRCA1 e BRCA2 estão descritos como genes supressores de tumor, são encarregados pela regulação a proliferação celular de forma negativa e atuam na apoptose, ou seja, uma imperfeição ou outra variação em algum desses genes contribui para o acréscimo da predisposição ao câncer de mama. Conclusão: o câncer de mama é acometido em pacientes com mutações nos genes BRCA 1 e BRCA 2, sendo fundamental aprofundar pesquisas para melhor entender a atuação desses genes na fisiopatologia do câncer de mama.
APA, Harvard, Vancouver, ISO, and other styles
7

Duan, Haohui, Rachel Reed, Judy Garber, and Shailja Pathania. "Abstract PR05: Distinct BRCA1- and BRCA2-specific functions at stalled replication forks: Clinical implications for differences between BRCA1 and BRCA2 mutation-driven cancer." In Abstracts: AACR Special Conference on DNA Repair: Tumor Development and Therapeutic Response; November 2-5, 2016; Montreal, QC, Canada. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1557-3125.dnarepair16-pr05.

Full text
APA, Harvard, Vancouver, ISO, and other styles
8

Adams, Scott M., Kruti M. Patel, Amy B. Emerman, Sarah K. Bowman, Charles D. Elfe, Noa Henig, Salvatore Russello, Andrew Barry, Theodore Davis, and Cynthia L. Hendrickson. "Abstract 5362: Targeting BRCA1 and BRCA2 with NEBNext Direct™." In Proceedings: AACR Annual Meeting 2017; April 1-5, 2017; Washington, DC. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1538-7445.am2017-5362.

Full text
APA, Harvard, Vancouver, ISO, and other styles
9

Ozanne, EM, L. Cipriano, M. Cameron, T. Newman, and LJ Esserman. "Cost-effectiveness of genetic testing for BRCA1 and BRCA2 mutations." In CTRC-AACR San Antonio Breast Cancer Symposium: 2008 Abstracts. American Association for Cancer Research, 2009. http://dx.doi.org/10.1158/0008-5472.sabcs-6100.

Full text
APA, Harvard, Vancouver, ISO, and other styles
10

Durocher, Daniel. "Abstract IA06: Regulation of BRCA1- and BRCA2-dependent DNA repair." In Abstracts: AACR Special Conference: Advances in Ovarian Cancer Research: Exploiting Vulnerabilities; October 17-20, 2015; Orlando, FL. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1557-3265.ovca15-ia06.

Full text
APA, Harvard, Vancouver, ISO, and other styles

Reports on the topic "BRCA1"

1

Schwartz, Marc D. Long Term Outcomes of BRCA1/BRCA2 Mutation Testing. Fort Belvoir, VA: Defense Technical Information Center, August 2005. http://dx.doi.org/10.21236/ada443929.

Full text
APA, Harvard, Vancouver, ISO, and other styles
2

Schwartz, Marc D. Long Term Outcomes of BRCA1/BRCA2 Mutation Testing. Fort Belvoir, VA: Defense Technical Information Center, August 2004. http://dx.doi.org/10.21236/ada429130.

Full text
APA, Harvard, Vancouver, ISO, and other styles
3

Schwartz, Marc D. Long Term Outcomes of BRCA1/BRCA2 Mutation Testing. Fort Belvoir, VA: Defense Technical Information Center, August 2007. http://dx.doi.org/10.21236/ada519028.

Full text
APA, Harvard, Vancouver, ISO, and other styles
4

Schwartz, Marc D. Long Term Outcomes of BRCA1/BRCA2 Mutation Testing. Fort Belvoir, VA: Defense Technical Information Center, August 2008. http://dx.doi.org/10.21236/ada520553.

Full text
APA, Harvard, Vancouver, ISO, and other styles
5

Schwartz, Marc D. Long Term Outcomes of BRCA1/BRCA2 Mutation Testing. Fort Belvoir, VA: Defense Technical Information Center, August 2006. http://dx.doi.org/10.21236/ada461957.

Full text
APA, Harvard, Vancouver, ISO, and other styles
6

Sung, Patrick M. Interactions Among BRCA1, BRCA2, and Components of the Recombination Machinery. Fort Belvoir, VA: Defense Technical Information Center, June 2002. http://dx.doi.org/10.21236/ada407213.

Full text
APA, Harvard, Vancouver, ISO, and other styles
7

Sung, Patrick M. Interactions Among Brca1, Brca2, and Components of the Recombination Machinery. Fort Belvoir, VA: Defense Technical Information Center, June 2003. http://dx.doi.org/10.21236/ada417993.

Full text
APA, Harvard, Vancouver, ISO, and other styles
8

Sung, Patrick M. Interactions Among BRCA1, BRCA2, and Components of the Recombination Machinery. Fort Belvoir, VA: Defense Technical Information Center, June 2000. http://dx.doi.org/10.21236/ada393509.

Full text
APA, Harvard, Vancouver, ISO, and other styles
9

Lynch, Henry T. Hereditary Breast Cancer: Mutations within BRCA1 and BRCA2 with Phenotypic Responses. Fort Belvoir, VA: Defense Technical Information Center, July 2001. http://dx.doi.org/10.21236/ada395893.

Full text
APA, Harvard, Vancouver, ISO, and other styles
10

Lynch, Henry T. Hereditary Breast Cancer: Mutations within BRCA1 and BRCA2 with Phenotypic Responses. Fort Belvoir, VA: Defense Technical Information Center, July 1999. http://dx.doi.org/10.21236/ada374220.

Full text
APA, Harvard, Vancouver, ISO, and other styles
You might also be interested in the extended bibliographies on the topic 'BRCA1' for particular source types:
Journal articles Dissertations / Theses Books
We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!

To the bibliography