Relevant bibliographies by topics / BRCA2

Academic literature on the topic 'BRCA2'

Author: Grafiati
Published: 4 June 2021
Last updated: 11 March 2023

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Journal articles on the topic "BRCA2"

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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.

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

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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.
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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.

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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]
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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.

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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.
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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.

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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]
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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.

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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]
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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.

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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.
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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.

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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.
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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.

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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.
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Shatavi, Seerin Viviane, Lindsay Dohany, Mohammad Muhsin Chisti, Ishmael A. Jaiyesimi, and Dana Zakalik. "Unique genetic characteristics of BRCA mutation carriers in a cohort of Arab American women." Journal of Clinical Oncology 31, no. 15_suppl (May 20, 2013): 1541. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.1541.

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1541 Background: Worldwide ethnic variations in the distribution of BRCA1 and BRCA2 mutations of breast cancer patients have been recently recognized. This has led to investigations of the epidemiology, genetics and clinical characteristics of BRCA positive individuals within specific populations. This study aims to describe the findings of BRCA genetic testing in a cohort of Arab American women. Methods: A total of 73 women of Arab ancestry were evaluated in the Beaumont Cancer Genetics Program from Jan 2008 to Jan 2013. Criteria for genetic testing included a personal or family history suggestive of Hereditary Breast and Ovarian Cancer Syndrome (HBOC). Patients underwent comprehensive genetic counseling, followed by full sequence analysis for germline mutations in BRCA1 and BRCA2. Results: 63 women of Arab ancestry underwent genetic testing for BRCA1 and BRCA2. 13 (21%) patients were found to be mutation carriers, of whom 10 (16%) of the 63 had deleterious mutations (7 in BRCA2, and 3 in BRCA1), and 3 (5%) had variants of undetermined significance (VUS) in BRCA2. Of the 10 patients with deleterious mutations, 4 (40%) unrelated individuals had the same mutation, 5804del4, in exon 11 of BRCA2. The remaining patients had deleterious mutations in exon 2, exon 20, and exon 13 of BRCA2; one patient had a BRCA1 and BRCA2 mutation (exon 18). 7 of 10 patients with deleterious mutations had a cancer diagnosis, of which 5 had breast cancer, 1 had ovarian cancer, 1 had pancreatic cancer, and 3 were unaffected. Conclusions: This study demonstrates that BRCA mutations (predominantly in BRCA2) were seen in a significant proportion of Arab American women undergoing genetic testing for HBOC. A mutation in BRCA2, 5804del4, was seen in nearly half (4/10) of the carriers of deleterious mutations. This mutation, in exon 11, has not previously been associated with Arab ethnicity and may represent a founder mutation. Knowledge of the genetic spectrum, frequency, and clinical characteristics of BRCA mutation carriers will lead to greater understanding of hereditary cancer in Arab American women.
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Dissertations / Theses on the topic "BRCA2"

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

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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.

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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.

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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.
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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.

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Al, Abo Muthana. "Compensatory functions and interdependency of the DNA-binding domain of BRCA2 with the BRCA1-PALB2-BRCA2 complex." Kyoto University, 2014. http://hdl.handle.net/2433/188662.

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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.

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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.

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

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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.

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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.

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Books on the topic "BRCA2"

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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.

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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.

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Ionescu, Daniela. Protein-protein interactions between the breast cancer susceptibility gene product BRCA2 and replication protein A. Ottawa: National Library of Canada, 1999.

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

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1966-, Gordon Ora Karp, ed. Positive results: Making the best decisions when you're at high risk for breast or ovarian cancer. Amherst, N.Y: Prometheus Books, 2010.

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

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B. Chagpar, Anees, ed. Managing BRCA Mutation Carriers. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-59198-8.

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

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

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Gerhardus, Ansgar, Henriette Schleberger, Brigitte Schlegelberger, and Friedrich Wilhelm Schwartz, eds. BRCA — Erblicher Brust- und Eierstockkrebs. Berlin/Heidelberg: Springer-Verlag, 2005. http://dx.doi.org/10.1007/b137779.

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Book chapters on the topic "BRCA2"

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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.

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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.

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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.

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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.

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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.

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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.

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Holdenrieder, S., and P. Stieber. "BRCA2." In Springer Reference Medizin, 484. Berlin, Heidelberg: Springer Berlin Heidelberg, 2019. http://dx.doi.org/10.1007/978-3-662-48986-4_619.

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Holdenrieder, S., and P. Stieber. "BRCA2." In Lexikon der Medizinischen Laboratoriumsdiagnostik, 1. Berlin, Heidelberg: Springer Berlin Heidelberg, 2017. http://dx.doi.org/10.1007/978-3-662-49054-9_619-1.

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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.

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Devilee, Peter. "BRCA1/BRCA2 Germline Mutations and Breast Cancer Risk." In Encyclopedia of Cancer, 1–5. Berlin, Heidelberg: Springer Berlin Heidelberg, 2015. http://dx.doi.org/10.1007/978-3-642-27841-9_713-2.

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Conference papers on the topic "BRCA2"

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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.

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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.
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Feijão, Maria Clara Tomaz, Fernanda Pimentel Arraes Maia, Mateus Coelho Gondim de Oliveira Lima, Vitória Moreira Soares, and Luiz Gonzaga Porto Pinheiro. "CONCERNING A FAMILY WITH BRCA2 MUTATION." In XXIV Congresso Brasileiro de Mastologia. Mastology, 2022. http://dx.doi.org/10.29289/259453942022v32s1019.

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Introduction: Breast cancer is the most common malignancy in women and represents a major obstacle to public health worldwide. The molecular diagnosis of this type of cancer is one of the main contemporary challenges in oncology, since it is hampered by a complex inheritance pattern, characterized by both genetic and environmental factors. Only a minority of breast cancers are explained by the presence of high penetrance gene mutations, such as those in the BRCA1 and BRCA2 genes, which together with mutations in intermediate penetrance genes explain only up to 25% of the risk. In fact, much of the genetic influence is elucidated by low penetrance variants. Mutations in the germline BRCA1 and BRCA2 are the most common alterations in cases of early onset or of family history of breast cancer. It is also important to acknowledge that BRCA2 mutations can increase the risk of developing other cancers. Some studies show a relation between BRCA2 mutations and the development of leukemia, especially acute myeloid leukemia (AML). Also, some of these mutations, when inherited from both parents, cause a rare form of Fanconi anemia, a syndrome associated with the development of AML. In addition, there are studies evaluating a higher risk of pancreatic and esophageal cancer in carriers of BRCA2 mutations. The risk of colorectal cancer is also increased in patients with BRCA1 mutations. However, there are also some authors who defend that BRCA2 mutations could also be related. The specific statistics are not well defined because of the lack of data focusing on the relationship with the aforecited types of cancers, demonstrating the need for further analysis. This study aims to report the case of a woman with breast cancer at an early age. Such malignancy is associated and was somehow induced by the rich family history, represented by the high prevalence of cancer in the ancestry. We report a 34-year-old woman with an extensive history of carcinoma in the family, who was diagnosed with breast cancer in July 2016. In order to confirm the diagnosis, it was required an ultrasound, which resulted in a 2.2×1.5 cm node on the right breast’s left superior quadrant, classified as BIRADS 4A. It also performed an ultrasound-guided biopsy that showed a tubular carcinoma on the right breast with the following characteristics: positive for estrogen and progesterone receptor, positive for KI 67 (5%), and negative for HER2, with staging of T1cN0M0. During anamnesis, the patient mentioned menarche at 12 years old, history of birth control pills use for 10 years, no pregnancy, and no breastfeeding. When it comes to family history, a great number of relatives were previously diagnosed with some type of cancer. Her paternal grandfather had rectum cancer at 42 years old and breast cancer at 62 years old. The paternal grandmother passed away because of a fast-progression leukemia at the age of 68. It is important to mention that her progenitors were first cousins. Furthermore, the patient’s dad was diagnosed with breast cancer at 62 years, alongside his three brothers who were also diagnosed with cancer: one with prostatic cancer at the age of 64 years and the other two with intestinal cancer at the ages of 64 and 68 years old. Considering such a family history, a genetic panel was performed, analyzing the genes related to hereditary cancer risk, and it identified mutations in the patient’s BRCA2 gene. Then, firstly, she performed a bilateral mastectomy in January 2017 with sentinel lymph node investigation, which was negative for neoplastic cells in the lymph nodes. Later, considering the BRCA2 mutation, in August 2017, the patient had to undergo prophylactic surgery: oophorectomy with salpingectomy.
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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.

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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.
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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.

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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.

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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.

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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.

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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.
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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.

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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.

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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.

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Reports on the topic "BRCA2"

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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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