Bibliographies thématiques / Multigene mutational panels

Littérature scientifique sur le sujet « Multigene mutational panels »

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Publié le 11 mars 2023

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Articles de revues sur le sujet "Multigene mutational panels"

Zagorodnev, Kirill, Yevgeniy Suspitsyn, Anna Sokolenko, A. Romanko, M. Anisimova, Ilya Bizin, Ye Kuligina et Yevgeniy Imyanitov. « APPLICATION OF THE TARGETED MULTIGENE SEQUENCING FOR THE SEARCH OF HEREDITARY BREAST CANCER MUTATIONS IN RUSSIAN PATIENTS ». Problems in oncology 65, n^o 3 (1 mars 2019) : 349–56. http://dx.doi.org/10.37469/0507-3758-2019-65-3-349-356.

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Understanding of the molecular-genetic pathogenesis of hereditary cancer syndrome is extremely important for developing of personal therapeutic approaches and for improving the effectiveness of preventive measures. Today, the optimal solution for the search of causative germ-line mutations in hereditary breast cancer (BC) patients is the next-generation sequencing-based multigene mutational screening. The authors have assembled a targeted panel of 31 genes, based on their potential involvement in the cancer susceptibility and taking into account the frequency of pathogenic alleles in the Russian population. It includes the “canonical” genes of hereditary breast cancer (BRCA1, BRCA2, BRIP1, PALB2, TP53, ATM, NBN), the recently identified “novel” genes (BLM, FANCD2, POLE, FANCM, RAD51C, MRE11A, RECQL, as well as some other genes involved in DNA repair, apoptosis and genome stability maintenance. 94 patients with hereditary BC of unknown genetic etiology were subjected to targeted sequencing. As a result, causative germ-line mutations were identified in 21/94 (22.3%) patients. Importantly, 19 patients harbored rare non-founder BRCA1 and BRCA2 mutations. In the remaining two cases, the functions of the ATM (p.Glu73fs) and POLE (p.Leu1171fs) genes were disrupted. The obtained data are of evident clinical importance; they argue for the expanding of diagnostic panels for monitoring at-risk individuals and for moving the standards of routine clinical diagnostics towards the targeted next-generation sequencing of multigene panels.

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Stadler, Zsofia K., Francesca Battaglin, Sumit Middha, Jaclyn F. Hechtman, Christina Tran, Andrea Cercek, Rona Yaeger et al. « Reliable Detection of Mismatch Repair Deficiency in Colorectal Cancers Using Mutational Load in Next-Generation Sequencing Panels ». Journal of Clinical Oncology 34, n^o 18 (20 juin 2016) : 2141–47. http://dx.doi.org/10.1200/jco.2015.65.1067.

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Purpose Tumor screening for Lynch syndrome is recommended in all or most patients with colorectal cancer (CRC). In metastatic CRC, sequencing of RAS/BRAF is necessary to guide clinical management. We hypothesized that a next-generation sequencing (NGS) panel that identifies RAS/BRAF and other actionable mutations could also reliably identify tumors with DNA mismatch repair protein deficiency (MMR-D) on the basis of increased mutational load. Methods We identified all CRCs that underwent genomic mutation profiling with a custom NGS assay (MSK-IMPACT) between March 2014 and July 2015. Tumor mutational load, with exclusion of copy number changes, was determined for each case and compared with MMR status as determined by routine immunohistochemistry. Results Tumors from 224 patients with unique CRC analyzed for MMR status also underwent MSK-IMPACT. Thirteen percent (n = 28) exhibited MMR-D by immunohistochemistry. Using the 341-gene assay, 100% of the 193 tumors with < 20 mutations were MMR-proficient. Of 31 tumors with ≥ 20 mutations, 28 (90%) were MMR-D. The three remaining tumors were easily identified as being distinct from the MMR-D tumors with > 150 mutations each. Each of these tumors harbored the P286R hotspot POLE mutation consistent with the ultramutator phenotype. Among MMR-D tumors, the median number of mutations was 50 (range, 20 to 90) compared with six (range, 0 to 17) in MMR-proficient/POLE wild-type tumors (P < .001). With a mutational load cutoff of ≥ 20 and < 150 for MMR-D detection, sensitivity and specificity were both 1.0 (95% CI, 0.93 to 1.0). Conclusion A cutoff for mutational load can be identified via multigene NGS tumor profiling, which provides a highly accurate means of screening for MMR-D in the same assay that is used for tumor genotyping.

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Alemar, Barbara, Cristina Netto, Camila Bittar, Osvaldo Artigalas, Cleandra Gregorio, Marina Roberta Scheid et Patricia Ashton-Prolla. « Germline mutational spectrum of Brazilian HBOC patients tested with hereditary cancer multigene panels. » Journal of Clinical Oncology 34, n^o 15_suppl (20 mai 2016) : e13113-e13113. http://dx.doi.org/10.1200/jco.2016.34.15_suppl.e13113.

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Pajares, Bella, Marcos Iglesias Campos, Tamara Díaz, Rafael Jesus Peralta, Emilio Alba et Antonia Marquez. « Genetic and clinical characterization of multigene hereditary breast and ovarian cancer (HBOC) panels in Málaga (Spain). » Journal of Clinical Oncology 39, n^o 15_suppl (20 mai 2021) : e22530-e22530. http://dx.doi.org/10.1200/jco.2021.39.15_suppl.e22530.

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e22530 Background: Next Generation Sequencing (NGS) technologies have transformed hereditary breast and ovarian cancer (HBOC) testing process. Several multigene panels (MP) include from 10 to 100 candidate cancer susceptibility genes, but there is a debate about what genes should and should not be tested because of lack of actionability. Few studies have been reported about MP in Europe or Spanish cancer families and no studies in Andalusian population (southern Spain). Methods: We investigated a panel of 17 known genes of high/moderate-risk for HBOC in 938 clinically suspicious HBOC Andalusian families (SEOM 2015 criteria), tested from 2017 to 2019. Multigene panel including BRCA,1 BRCA2, CHEK2, PALB2, BRIP1, ATM, MLH1, MSH2, MSH6, PMS2, CDH1, NF1, PTEN, p53, STK11, RAD51C and RAD51D was performed. Results: We identified 130 patients who carried a high- or moderate-risk pathogenic variants: 61 in BRCA2 (47%), 30 in BRCA 1 (23%), 10 in CHEK2 (8%), 7 in ATM (5%), 7 in PALB2 (5%), 4 in RAD51 (3%), 4 in BRIP1 (3%), 4 in MSH6 (3%), 2 in MLH1 (1,5%) and 1 in MSH2. We detected 220 patients carry variants of uncertain significance (VUS), with a total of 248 VUS (some patients carried more than one VUS): 46 (19%) in ATM, 38 (15%) in BRCA 2, 28 (11%) in MSH6, 19 (8%) in PMS2, 17 (7%) in BRIP1, 16 (6%) in NF1, 14 (6%) in MSH2 and 12 (5%) in CDH1 and PALB2. The most frequent criteria in the entire cohort was “High-grade epithelial non-mucinous ovarian cancer”, reported in 243 cases (26%)”, whereas “Breast cancer (BC) diagnostic under 35” was the most frequent criteria between positives (48 cases (40%)). One case carried two pathogenic variants: BRCA2 and MUTYH. Conclusions: This is the first study reporting the mutational profile of MP gene testing in Andalusia. 70% of mutations were due to BRCA1 and 2 followed by far by CHEK2, ATM and PALB2. We also identified a large amount of VUS in BRCA2, ATM and MSH6. MP improve the diagnostic in andalusian HBOC patients.

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fontana, sabrina K. kahler ribeiro, emanuele bonetti, loris bernard, mariarosaria calvello, Bernardo Bonanni, ppina Bonizzi, Paolo Veronesi, Luca Mazzarella, Viviana Galimberti et claudia sangalli. « Abstract P6-02-11 : Implementation of multigene panel testing in triple-negative breast cancer. The PERSONA-breast trial ». Cancer Research 83, n^o 5_Supplement (1 mars 2023) : P6–02–11—P6–02–11. http://dx.doi.org/10.1158/1538-7445.sabcs22-p6-02-11.

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Abstract Kahler Ribeiro Fontana S1, Bonetti E2, Bernard L3, Calvello M4, Bonanni B4, Bonizzi G 5, Veronesi P1,6, Mazzarella L 2, Galimberti V1 Introduction Triple-negative breast cancer (TNBC) is frequently associated with germline genetic variants associated with cancer predisposition. Approximately 20% of TNBC carry a germline BRCA1 or BRCA2 mutation. Germline mutations in other genes involved in DNA repair, specifically Homologous Recombination (HRR), including ATM, BARD1, BRIP1, CHEK2, PALB2, RAD50, RAD51C, RAD51D may be associated with TNBC however remain imprecise in several populations as in Italy. In recent years, there has been an increase in multigenic panel testing thanks to better technology and the fact that genetic testing is no longer done just for prevention but they have become relevant in the clinical setting and this is especially true for triple negative disease. At the European Institute of Oncology, we conducted a prospective clinical trial, the PERSONA Breast trial, aimed at providing a more comprehensive picture of the mutational landscape and cancer risk in patients with TNBC by multigene germline genetic testing. Methods PERSONA is a prospective observational trial conducted between June 2018 and January 2022 on 313 patients with a diagnosis of TNBC ≤ 60 years and able to undergo surgery (primary or post-neoadjuvant). Peripheral blood DNA was sequenced with the Illumina TruSight Cancer panel (94 cancer predisposition genes). Genes were classified as germline actionable (n. 15) or non-actionable (n. 79) according to their associated relative risk of cancer. Genetic variants were classified according to the American College of Medical Genetics and Genomics (ACMG) guidelines and the databases of genetic variants (ClinVar, LOVD, BRCA-Exchange,). All enrolled patients were followed up six-monthly for 10 years from informed consent or to death or withdrawal of consent. Results We present preliminary germline results from a 94-gene panel testing performed on a cohort of 313 TNBC patients. The clinical data of these patients was considered for a descriptive analysis of the cohort. Data on outcome such as overall survival and disease-free survival were not yet available. Germline multigene testing detected 62 unique (i.e., n. 49 in actionable, n. 13 in non-actionable genes) pathogenic (C5) and likely pathogenic (C4) variants in 25.2% of TNBC patients (79/313). As expected, 53.2% (42/79) of TNBC patients were carriers of a C5/C4 in BRCA1. C4/C5 were identified also in other actionable genes: 13.9% (11/79) in BRCA2, 8.9% (7/79) in MUTYH, 3.8% (3/79) in PALB2, 2.5% (2/79) in MSH2, 1.3% (1/79) in PMS2, and 1.3% (1/79) in TP53. In addition, 12 TNBC patients had C4/C5 variants in non-actionable genes, and 4 were carriers of both C4/C5 variants in actionable and non-actionable genes. Multigene testing resulted in the identification of 655 (i.e., n.82 in actionable, n. 573 in non-actionable genes) variants of uncertain significance (C3 or VUS) in 89.8% (281/313) of patients. Of the 281 C3 carriers, 60 had other variants (C4 and/or C5), of an uncertain result (in whom C3 was the highest class of variant) only in 70.6% (221/313) of TNBC patients. In 13 patients (13/313; 4.1%) only benign (C1) or likely benign (C2) variants were identified. Regarding family history, 67% of BRCA1 carriers versus 30% of BRCA2 carriers were familial. Conclusion Germline multigene testing in TNBC can identify C4/C5 in actionable genes providing information for a more tailored management of TNBC. Our study showed that the rate of VUS remains high using multigene testing. Of note, VUS were mainly identified in non-actionable genes supporting the rationale of the use in the clinical setting of phenotype-specific multigene panels, including a minor, but more appropriate, number of genes. Citation Format: sabrina K. kahler ribeiro fontana, emanuele bonetti, loris bernard, mariarosaria calvello, Bernardo Bonanni, ppina Bonizzi, Paolo Veronesi, Luca Mazzarella, Viviana Galimberti, claudia sangalli. Implementation of multigene panel testing in triple-negative breast cancer. The PERSONA-breast trial [abstract]. In: Proceedings of the 2022 San Antonio Breast Cancer Symposium; 2022 Dec 6-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2023;83(5 Suppl):Abstract nr P6-02-11.

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Bapat, Bela, Connor Sweetnam, Ashleigh McBratney, Monika A. Izano, Brock Schroeder, Sheetal Walters, William Chen, Phillip G. Febbo et Anna B. Berry. « Actionability of comprehensive genomic profiling (CGP) compared to single-gene and small panels in patients with advanced/metastatic non-small cell lung cancer (aNSCLC) : A real-world study. » Journal of Clinical Oncology 40, n^o 16_suppl (1 juin 2022) : e21114-e21114. http://dx.doi.org/10.1200/jco.2022.40.16_suppl.e21114.

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e21114 Background: Biomarker testing for patients with aNSCLC includes testing for specific alterations in single genes, hotspot multigene panels, or CGP. Historically, CGP has been used following progression on early lines of systemic therapy to identify genomic alterations not captured by single-gene/hotspot testing, or to determine clinical trial(CT) eligibility. We compared the proportion of patients with genomic alterations for which FDA has approved targeted therapies(TT) (actionable alterations) identified through CGP vs. single-gene/small panel(“small panel”) testing in the real-world setting. Methods: In a retrospective study, patients initially diagnosed-with/progressed-to aNSCLC between 1/1/2015-12/31/2020, treated in the US community health setting, were categorized based on small panel or CGP testing. Patients were followed until the earliest of last contact/death/study-end on 9/30/2021. Testing between 30 days prior to initial NSCLC diagnosis and end of follow-up was used to determine actionability based on OncoKB levels, and eligibility for two basket-CTs(ASCO-TAPUR, NCI-MATCH). Results: Of 7,242 aNSCLC patients in this study, 5,154 (72%) received molecular testing (50% only small panel; 14% CGP; and 7% with an unknown size panel), 22% of patients remained untested and 7% were tested for only PD-L1. Among CGP-tested patients evaluated for tumor mutational burden (TMB), 18% were classified as TMB-High. > 75% of patients presented with advanced cancer at initial diagnosis, 51% were female, 50% were White, and median age was 68 years. Molecular testing rate increased from 9% to 20%(CGP) and 42% to 51%(small panel) between 2015–2020. The proportion of patients with ≥1 actionable biomarker was significantly higher with CGP than small panels (34%vs.15%; p < 0.001). Of tested patients. the proportion of CT eligible patients was also significantly greater for CGP than small panels (56%vs.4%; p < 0.001). The proportion of tested patients that received an FDA-approved TT or immunotherapy(IO) within 30 days of testing was higher in CGP cohort compared to small panel (9%vs.3%; p < 0.001). Conclusions: Although rates of CGP and small panel testing are increasing over time, overall molecular testing remains underutilized, and the proportion of patients who received TT/IO post-testing is low. Use of CGP is associated with higher identification of actionable biomarkers and patients receiving TT/IO, and CT eligibility.

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Fields, Jessica, Dimitrios Nasioudis, Zhen Ni Zhou, Ann Carlson, Melissa Kristen Frey, Kevin Holcomb et Eloise Chapman-Davis. « Underutilization of multigene panels among Ashkenazi Jewish patients. » Journal of Clinical Oncology 35, n^o 15_suppl (20 mai 2017) : 1533. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.1533.

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1533 Background: Approximately one in forty Ashkenazi Jewish (AJ) individuals carry a BRCA1/2 mutation and genetic screening in this population has largely focused on these two genes. With the recent rapid uptake of multigene panel testing for cancer genetic assessment, we sought to explore multigene panels in our cohort which is comprised of AJ and non-AJ patients. Methods: The results of all patients with known ancestry who underwent genetic testing and counseling at the hereditary breast and ovarian cancer center at a single institution between 7/1/2013-12/31/2016 were reviewed. Results: One thousand six hundred and fifty patients with known ancestry underwent genetic testing over the study period, including 681 AJ patients. The median age was 49 (range 20-86). AJ patients were more likely to undergo targeted testing than non-AJ patients (74% vs. 61 %, P<0.001). The use of multigene panels in AJ patients increased over time (2013 – 3.2%, 2014 – 18.7%, 2015 – 27.4%, 2016 – 48.4%, P<0.001). Mutations were more common in AJ patients (75, 11% vs. 66, 7%, P=0.003). Variants of uncertain significance (VUS) were less common in AJ patients (40, 6% vs. 124, 13%, P<0.001), even when excluding patients with single gene testing (32, 19% vs. 98, 27%, P=0.05). Among all patients, mutations in BRCA1/2 were most common (75%). The majority (69%) of non- BRCA1/2 mutations were identified on multigene panels. Rates of mutations in non- BRCA1/2 genes were the same among AJ and non-AJ patients (16, 21% vs. 20, 30%, P=0.3, Table 1). Conclusions: AJ patients have equivalent rates of non- BRCA1/2 mutations and on multigene panels have lower rates of VUS compared to non-AJ patients. However, the majority of AJ patients underwent targeted gene testing. These findings suggest consideration of a change in paradigm for genetic assessment of AJ patients with a focus on BRCA and non- BRCAassociated cancer genes through multigene panel testing. [Table: see text]

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Kapoor, Nimmi S., Jennifer Swisher, Rachel E. McFarland, Mychael Patrick et Lisa D. Curcio. « Impact of hereditary multigene panel testing for cancer survivors. » Journal of Clinical Oncology 34, n^o 3_suppl (20 janvier 2016) : 261. http://dx.doi.org/10.1200/jco.2016.34.3_suppl.261.

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261 Background: Recently, genetic testing for hereditary cancer syndromes has seen numerous advances in testing spectrum, capability, and efficiency. This may have important implications for cancer survivors and their families. The purpose of this study is to evaluate the impact of reflex genetic testing with newer multi-gene panels on patients with prior negative BRCA1/2 tests. Methods: Data was collected retrospectively from patients who underwent multi-gene panel testing at one of three sites from a single institution between 8/2013-6/2015. Those with a personal history of breast or ovarian cancer and a prior negative BRCA1/2 test were included. Results: Of 914 patients who underwent multi-gene panel tests, 187 met study inclusion criteria. Ten patients (5.3%) were found to carry 11 pathogenic mutations, including 6 patients with mutations in CHEK2, 2 patients with mutations in PTEN, and 1 patient each with mutations in the following genes: BARD1, NF1, and RAD51C. One patient had two pathogenic mutations identified—CHEK2 and BARD1. Of 10 patients with mutations, 9 had a personal history of breast cancer diagnosed at a median age of 43 (range 35-52) and 1 had ovarian cancer diagnosed at age 65. A majority of mutation carriers underwent panel testing years after their cancer diagnosis (median 6 years, range 0.5-32 years) and none with delayed testing had undergone prophylactic contralateral mastectomy prior to the discovery of their gene mutation. All patients with mutations had a family history of at least one cancer, with most having a variety of cancer diagnoses in multiple relatives. Positive panel testing results altered clinical management in most patients, including addition of breast MRI, colonoscopy, or thyroid ultrasound depending on the gene mutation. After discovery of a PTEN mutation 19 years after her initial cancer treatment, one woman underwent bilateral prophylactic mastectomy and was found to have occult ductal carcinoma in situ. Conclusions: Cancer survivorship must incorporate advances in technology that may be beneficial even years after treatment has ended. Multi-gene panel testing can be applied in survivorship settings as a useful tool to guide screening recommendations.

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Yadav, Siddhartha, Jennifer Fulbright, Heidi Dreyfuss, Ashley Reeves, Sarah Campian, Vicky Thomas et Dana Zakalik. « Outcomes of retesting BRCA-negative patients using multigene panels. » Journal of Clinical Oncology 33, n^o 28_suppl (1 octobre 2015) : 23. http://dx.doi.org/10.1200/jco.2015.33.28_suppl.23.

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23 Background: New technologies for identifying hereditary predisposition to breast cancer have led to the discovery of novel genes associated with cancer risk. This has prompted re-evaluation of patients who previously tested negative for BRCA1/2 gene mutations, with a possibility of discovering new genes which may impact management. This study reports on the results of retesting patients who previously were negative for BRCA1/2. Methods: Patients who tested negative for BRCA1/2 mutations who had significant personal and family history were referred back to the Cancer Genetics Center between February 1, 2012 and May 30, 2105 for discussion of additional testing. A detailed personal and family history was reviewed, and patients were counseled about the genetics and clinical implications of panel testing for multiple breast cancer genes. Panel testing using next generation sequencing technologies was ordered. Patients were seen in follow up for discussion of results and management. Results: A total of 12 pathogenic mutations were identified during the study period. The genes and frequencies of these mutations were: CHEK2(3), PALB2(3), ATM(2), APC(1), BARD(1), CDH(1), MUTYH(1). There were 33 variants of undetermined significance(VUS) in 27 patients. 5 of these were seen in patients with a known pathogenic mutation; 3 others were later classified as benign. The frequencies of these VUSs were: ATM (9), PALB2(3), BARD1 (3), PTEN(3), PMS2(3), MSH6(2), CHEK2 (1), MYH(1), RAD51(1), BRIP1(2), NF1(1), BMPR1A(1). Of the 46 patients who had their initial BRCA testing and repeat panel testing between February 1, 2012 and May 30, 2015, 6 (13%) tested positive for a pathogenic mutation. Conclusions: This study demonstrates the feasibility and potential clinical benefit of retesting individuals who previously tested negative for BRCA1/2 mutation. This approach had a significant management impact on patients and their families, with a 13% detection rate of pathogenic mutations. The success of retesting is predicated upon an infrastructure of provider and patient education, pre and post genetic counseling and serves as a model for other centers.

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Thèses sur le sujet "Multigene mutational panels"

BONO, Marco. « Multigene panel testing in Hereditary Breast and Ovarian Cancer : an effective liquid biopsy approach to identify mutations in genes involved in the Homologous Recombination pathway ». Doctoral thesis, Università degli Studi di Palermo, 2021. http://hdl.handle.net/10447/479959.

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Background: Hereditary breast and ovarian cancer (HBOC) syndrome is an autosomal dominant inherited disorder that include 5–7% of all breast cancer (BC) cases and 10-15% of all ovarian cancer (OC) cases. BRCA1 and BRCA2 are the most common genes associated to HBOC syndrome. However, hereditary syndrome could be associated with germline PVs in several high- and moderate-risk genes. In recent years, Next-Generation Sequencing (NGS) has allowed to study multiple genes simultaneously, to reduce analysis costs, to led to an explosion of genetic data, and to offer more information to patients. Methods: We retrospectively collected and analyzed to BRCA1/2 test 876 patients affected by BC and OC (531 of BC, 345 of OC) among January 2016 to August 2020. Successively, we analyzed 192 patients resulted BRCA1/2 negative with a strong personal and/or family history to BC and/or OC by using Multi-gene panel testing. We evaluated 22 genes involved in risk of hereditary breast, ovarian and colorectal cancer, and other inherited tumor syndromes. Results: Analysis conducted with multi-gene panel testing revealed that 28 (14.6%) BC and OC patients showed PVs/LPVs in genes no-BRCA. In particular, we analyzed 165 BC patients and 27 OC patients, and we obtained 27 and 4 patients with PVs/LPVs in genes no-BRCA respectively. BC patients with alteration in gene over BRCA hardly showed TNBC than patients with BRCA1/2 or all wt. Moreover, among BC patients with genes altered beyond BRCA the 45.8% showed a Bilateral Breast Cancer. In OC group we observed that 75% of patients with PVs/LPVs in genes over BRCA showed a previously personal history of BC or other cancer. Conclusion: Our analysis showed that the 14.6% of patients BRCA-negative with a strong personal and/or family history to BC and/or OC presented alteration in genes beyond BRCA1/2. This result highlighted the importance of multi-gene panel testing which should be extended at all these patients and be included in clinical practice

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Actes de conférences sur le sujet "Multigene mutational panels"

Heinzen, Rebeca Neves, Maria Eduarda Meyer, Liliane Raupp Gomes Pizatto et Adriana Magalhães de Oliveira Freitas. « PREVALENCE OF VARIANTS OF UNCERTAIN SIGNIFICANCE IN TESTS REQUESTED FOR BREAST CANCER PATIENTS IN A PRIVATE SERVICE ». Dans Scientifc papers of XXIII Brazilian Breast Congress - 2021. Mastology, 2021. http://dx.doi.org/10.29289/259453942021v31s1049.

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Introduction: The genetic mutations test among breast cancer (BC) patients is one of the steps for the diagnosis in the majority of the patients. To identify and manage patients with hereditary predisposition to cancer is also a competence of the breast surgeon. The development of Next Generation Sequence (NGS) has allowed the reduction of the tests’ cost as well as the expansion of the analyzed genes, besides BRCA 1 and 2, and the inclusion of new genes of high and moderate penetrance. There is a concern about the impact of these results because there is not a well-established conduct for all the mutations as well as for the increase of the diagnoses of variant of uncertain significance (VUS) diagnosed in the panels, mostly in patients that did not receive a formal genetic counseling. Studies show that the larger number of analyzed genes is related to a better chance of detecting VUS, reaching 40%, but they are not conduct modifiers. The literature shows that approximately 90% of VUS are reclassified as benign. Objectives: To assess prevalence of VUS in multigenic panels requested by the non-geneticist physician, in private office, performed on patients with BC diagnosis. Methods: A retrospective cross-sectional study was conducted based in data from invasive BC patients or in situ or with high risk for neoplasia that attended a private office and were subjected to multigenic panels requested by the non-geneticist physician from January 2019 to January 2020. Statistical analysis frequency measurements were analyzed in Excel Office®. Results: 147 patients underwent the genetic test of 83 genes with NGS technology. Only one was a male. Among the tests performed, 48 were negative for pathogenic variants and 23 were positive for pathogenic mutations in 22 (15%) patients, the most common being in BRCA2 gene (7 cases), followed by MUTHY (6 cases). 137 VUS occurred in 77 (52.4%) patients, the most common of these being in gene POLE and RECQL4. Conclusions: The data found in our population match the literature, showing more than half of the patients with VUS. This demonstrates the importance of test interpretation as well as inpatient correct orientation.

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Gau, Chia-Ling, Holly LaDuca, Hong Lu, AJ Stuenkel, Tina Pesaran, Elaine Chen, Jill Siegfried et al. « Abstract 14 : Identification of probands with multiple mutations in cancer susceptibility genes using a multigene panel approach ». Dans Abstracts : AACR Special Conference : Cancer Susceptibility and Cancer Susceptibility Syndromes ; January 29-February 1, 2014 ; San Diego, CA. American Association for Cancer Research, 2014. http://dx.doi.org/10.1158/1538-7445.cansusc14-14.

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Couch, Fergus J., David E. Goldgar, Steven N. Hart, Emily Hallberg, Raymond Moore, Huong Meeks, Robert Huether, Holly LaDuca, Elizabeth Chao et Jill Dolinsky. « Abstract 2597 : Breast and ovarian cancer risks associated with cancer predisposition gene mutations identified by multigene panel testing ». Dans 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.am2016-2597.

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Kwong, A., V. Shin, CH Au, C. Ho, T. Slavin, J. Weitzel, TL Chan et E. Ma. « Abstract P5-09-12 : Germline mutation inTP53gene in a cohort of 2,561 Chinese high-risk breast cancer patients using multigene panel testing ». Dans Abstracts : 2018 San Antonio Breast Cancer Symposium ; December 4-8, 2018 ; San Antonio, Texas. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.sabcs18-p5-09-12.

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