scholarly journals The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants

2019 ◽  
Vol 144 (11) ◽  
pp. 2683-2694 ◽  
Author(s):  
Stephanie Schubert ◽  
Jana L. Luttikhuizen ◽  
Bernd Auber ◽  
Gunnar Schmidt ◽  
Winfried Hofmann ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Cancer Patients ◽  
High Frequency ◽  
Pathogenic Variants

scholarly journals Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility

Cancers ◽  
2018 ◽  
Vol 10 (10) ◽  
pp. 361 ◽  
Author(s):  
Rosalía Quezada Urban ◽  
Clara Díaz Velásquez ◽  
Rina Gitler ◽  
María Rojo Castillo ◽  
Max Sirota Toporek ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Cancer Patients ◽  
Cancer Susceptibility ◽  
High Risk Group ◽  
Cancer Genes ◽  
Cancer Syndrome ◽  
Breast And Ovarian Cancer ◽  
Pathogenic Variants ◽  
Recurrent Mutations

Hereditary breast and ovarian cancer syndrome (HBOC) represents 5–10% of all patients with breast cancer and is associated with high-risk pathogenic alleles in BRCA1/2 genes, but only for 25% of cases. We aimed to find new pathogenic alleles in a panel of 143 cancer-predisposing genes in 300 Mexican cancer patients with suspicion of HBOC and 27 high-risk patients with a severe family history of cancer, using massive parallel sequencing. We found pathogenic variants in 23 genes, including BRCA1/2. In the group of cancer patients 15% (46/300) had a pathogenic variant; 11% (33/300) harbored variants with unknown clinical significance (VUS) and 74% (221/300) were negative. The high-risk group had 22% (6/27) of patients with pathogenic variants, 4% (1/27) had VUS and 74% (20/27) were negative. The most recurrent mutations were the Mexican founder deletion of exons 9-12 and the variant p.G228fs in BRCA1, each found in 5 of 17 patients with alterations in this gene. Rare VUS with potential impact at the protein level were found in 21 genes. Our results show for the first time in the Mexican population a higher contribution of pathogenic alleles in other susceptibility cancer genes (54%) than in BRCA1/2 (46%), highlighting the high locus heterogeneity of HBOC and the necessity of expanding genetic tests for this disease to include broader gene panels.

The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations

2018 ◽  
Vol 172 (1) ◽  
pp. 151-157 ◽  
Author(s):  
Inbal Barnes-Kedar ◽  
Rinat Bernstein-Molho ◽  
Nava Ginzach ◽  
Shulamit Hartmajer ◽  
Tamar Shapira ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Cancer Patients ◽  
High Risk Breast

High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus

2010 ◽  
Vol 78 (4) ◽  
pp. 364-372 ◽  
Author(s):  
NV Bogdanova ◽  
NN Antonenkova ◽  
YI Rogov ◽  
JH Karstens ◽  
P Hillemanns ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Cancer Patients ◽  
High Frequency ◽  
Founder Mutations ◽  
Allele Specific

scholarly journals Hereditary pancreatic cancer

2021 ◽  
Author(s):  
Kodai Abe ◽  
Minoru Kitago ◽  
Yuko Kitagawa ◽  
Akira Hirasawa
Keyword(s):  
Pancreatic Cancer ◽  
High Risk ◽  
Precision Medicine ◽  
Cancer Patients ◽  
Genome Wide Association Study ◽  
Parp Inhibitor ◽  
Cancer Syndrome ◽  
Germline Variants ◽  
Panel Testing ◽  
Pathogenic Variants

AbstractPancreatic cancer is associated with both family and hereditary cancer syndromes. Multigene panel testing for pancreatic cancer detected the germline variants BRCA1/2, PALB2, ATM, TP53, MLH1, STK11/LKB1, APC, CDKN2A, and SPINK1/PRSS1 as high-risk genes. A latest genome-wide association study revealed the common, but low-risk germline variants in pancreatic cancer patients. Active pancreatic surveillance using magnetic resonance imaging and endoscopic ultrasound is recommended for high-risk individuals who have a family history of pancreatic cancer or harbor these germline pathogenic variants to improve the detection rate and prognosis of pancreatic cancer. Since poly-ADP-ribose polymerase (PARP) inhibitor has been shown to be effective in improving the prognosis of BRCA-positive pancreatic cancer as well as hereditary breast and ovarian cancer syndrome, PARP inhibitor therapy is currently being applied as precision medicine to pancreatic cancer patients harboring the BRCA1/2 germline variant. This review highlights the importance of surveillance for germline pathogenic variants in pancreatic cancer and is expected to lead to improvements in the diagnosis and prevention of pancreatic cancer as well as facilitate the development of effective therapeutic strategies and precision medicine.

scholarly journals Integrated Analysis of Ferroptosis-Related Biomarker Signatures to Improve the Diagnosis and Prognosis Prediction of Ovarian Cancer

2022 ◽  
Vol 9 ◽  
Author(s):  
Huan Wang ◽  
Qi Cheng ◽  
Kaikai Chang ◽  
Lingjie Bao ◽  
Xiaofang Yi
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Cancer Patients ◽  
Risk Group ◽  
High Risk Group ◽  
The Cancer Genome Atlas ◽  
Integrated Analysis ◽  
M2 Macrophage ◽  
Gynecological Malignancy

Ovarian cancer remains the most lethal gynecological malignancy. Ferroptosis, a specialized form of iron-dependent, nonapoptotic cell death, plays a crucial role in various cancers. However, the contribution of ferroptosis to ovarian cancer is poorly understood. Here, we characterized the diagnostic, prognostic, and therapeutic value of ferroptosis-related genes in ovarian cancer by analyzing transcriptomic data from The Cancer Genome Atlas and Gene Expression Omnibus databases. A reliable 10-gene ferroptosis signature (HIC1, ACSF2, MUC1, etc.) for the diagnosis of ovarian cancer was identified. Notably, we constructed and validated a novel prognostic signature including three FRGs: HIC1, LPCAT3, and DUOX1. We also further developed a risk score model based on these three genes which divided ovarian cancer patients into two risk groups. Functional analysis revealed that immune response and immune-related pathways were enriched in the high-risk group. Meanwhile, the tumor microenvironment was distinct between the two groups, with more M2 Macrophage infiltration and higher expression of key immune checkpoint molecules in the high-risk group than in the other group. Low-risk patients exhibited more favorable immunotherapy and chemotherapy responses. We conclude that crosstalk between ferroptosis and immunity may contribute to the worse prognosis of patients in the high-risk group. In particular, HIC1 showed both diagnostic and prognostic value in ovarian cancer. In vitro experiments demonstrated that inhibition of HIC1 improved drug sensitivity of chemotherapy and immunotherapy agents by inducing ferroptosis. Our findings provide new insights into the potential role of FRGs in the early detection, prognostic prediction, and individualized treatment decision-making for ovarian cancer patients.

Low Colorectal Anastomosis After Pelvic Exenteration for Gynecologic Malignancies: Risk Factors Analysis for Leakage

2011 ◽  
Vol 21 (2) ◽  
pp. 397-402 ◽  
Author(s):  
Matías Jurado ◽  
Juan Luis Alcazar ◽  
Jorge Baixauli ◽  
Jose Luis Hernandez-Lizoain
Keyword(s):  
Risk Factors ◽  
Ovarian Cancer ◽  
Multivariate Analysis ◽  
High Risk ◽  
Cancer Patients ◽  
Pelvic Exenteration ◽  
Anal Verge ◽  
Colorectal Anastomosis ◽  
Gynecologic Malignancies ◽  
Factors Analysis

Objective:To study risk factors for low colorectal anastomotic leak after pelvic exenteration for gynecologic malignancies.Methods:Data from 60 patients, 32 with ovarian cancer and 28 with nonovarian cancer who underwent pelvic exenteration with colorectal anastomosis (CRA) were retrospectively analyzed.Results:Overall rate of CRA leak was 20%. The CRA leak was associated with type of tumor (3% for the ovarian cancer and 40.8% for the nonovarian cancer,P= 0.004), CRA height (<5 cm vs ≥5 cm, 75% vs 6.3%;P= 0.001), and previous radiotherapy (RT; 53.3% vs 8.9%;P= 0.001). Multivariate analysis showed that only previous RT and CRA height were associated with the CRA leak. Rectosigmoid wall involvement (81.8% vs 27%;P= 0.001) and mesorectum infiltration (69.2% vs 21.7%;P= 0.001) were more frequent among patients with ovarian cancer patients.Conclusion:Previous RT and CRA at or less than 5 cm from the anal verge pose a high risk for CRA leak. In these cases, a definitive colostomy should be recommended.

High frequency of human leucocyte antigen (HLA) A2 reflects a poorer prognosis in a group of advanced ovarian cancer patients

2005 ◽  
Vol 23 (16_suppl) ◽  
pp. 5054-5054 ◽  
Author(s):  
K. Bergfeldt ◽  
C. Hising ◽  
Z. Gamzatova ◽  
B. Tholander ◽  
E. Åvall-Lundqvist ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Patients ◽  
High Frequency ◽  
Human Leucocyte Antigen ◽  
Advanced Ovarian Cancer

Platinum-based adjuvant chemotherapy on moderate- and high-risk stage I and II epithelian ovarian cancer patients. Long-term single institution experience and literature review

2011 ◽  
Vol 13 (2) ◽  
pp. 121-132 ◽  
Author(s):  
José A. García-Sáenz ◽  
Ana Custodio ◽  
Antonio Casado ◽  
José Antonio Vidart ◽  
Pluvio J. Coronado ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Adjuvant Chemotherapy ◽  
Literature Review ◽  
Cancer Patients ◽  
Stage I ◽  
Single Institution
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