scholarly journals Whole Exome Sequencing in the Accurate Diagnosis of Bilateral Breast Cancer: a Case Study

2019 ◽  
Vol 22 (1) ◽  
pp. 131 ◽  
Author(s):  
Xiaoling Li ◽  
Mei Yang ◽  
Qiangzu Zhang ◽  
Yanhui Fan ◽  
Teng Zhu ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Bilateral Breast Cancer ◽  
Accurate Diagnosis ◽  
Whole Exome

scholarly journals Searching for the missing genetic determinants of hereditary breast cancer risk by whole-exome sequencing of BRCA-negative patients: new candidate genes USP39, SLIT3, CREB3

2021 ◽  
Vol 67 (1) ◽  
pp. 111-116
Author(s):  
Kirill Zagorodnev ◽  
Aleksandr Romanko ◽  
Uliy Gorgul ◽  
Aleksandr Ivantsov ◽  
Anna Sokolenko ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Exome Sequencing ◽  
Candidate Genes ◽  
Whole Exome Sequencing ◽  
Hereditary Breast Cancer ◽  
Germ Line ◽  
Genetic Diagnosis ◽  
Clinical Signs ◽  
Causative Mutation ◽  
Whole Exome

The search for the new hereditary mutations and a precise molecular genetic diagnosis that determines the causative mutation in each specific case of hereditary breast cancer (BC) is a clinically important task since it helps to define the personal therapeutic approach and increase the effectiveness of preventive measures. Using whole-exome sequencing (WES) we analyzed the full spectrum of hereditary variations in 49 Russian patients with clinical signs of a hereditary disease which allowed us to compile a list of 229 candidate probably pathogenic germ-line variants. Then, the selected candidate mutations were validated by Sanger sequencing and molecular-epidemiological studies, the predisposing roles of three oncologically relevant mutations (USP39 c.*208G>C, SLIT3 p.Arg154Cys, and CREB3 p.Lys157Glu) were confirmed. Our candidate genes are first mentioned in connection with the hereditary risk of BC. The final proofs of the causative roles of these variants could be obtained through functional tests as well as via the analysis of the mutations segregation in BC families.

scholarly journals Whole-exome sequencing of long-term, never relapse exceptional responders of trastuzumab-treated HER2+ metastatic breast cancer

2020 ◽  
Vol 123 (8) ◽  
pp. 1219-1222
Author(s):  
Naomi Walsh ◽  
Charlotte Andrieu ◽  
Peter O’Donovan ◽  
Cecily Quinn ◽  
Alanna Maguire ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Metastatic Breast Cancer ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Metastatic Breast ◽  
Whole Exome

scholarly journals Integrated Somatic and Germline Whole-Exome Sequencing Analysis in Women with Lung Cancer after a Previous Breast Cancer

Cancers ◽  
2019 ◽  
Vol 11 (4) ◽  
pp. 441 ◽  
Author(s):  
Simona Coco ◽  
Silvia Bonfiglio ◽  
Davide Cittaro ◽  
Irene Vanni ◽  
Marco Mora ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Lung Cancer ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Smoking Habit ◽  
Cancer Control ◽  
Sequencing Analysis ◽  
Multiple Cancer ◽  
Germline Variants ◽  
Whole Exome

Women treated for breast cancer (BC) are at risk of developing secondary tumors, such as lung cancer (LC). Since rare germline variants have been linked to multiple cancer development, we hypothesized that BC survivors might be prone to develop LC as a result of harboring rare variants. Sixty patients with LC with previous BC (the study population; SP) and 53 women with either BC or LC and no secondary cancer (control population; CP) were enrolled. Whole exome sequencing was performed in both tumors and unaffected tissues from 28/60 SP patients, and in germline DNA from 32/53 CP. Candidate genes were validated in the remaining individuals from both populations. We found two main mutational signature profiles: S1 (C>T) in all BCs and 16/28 LCs, and S2 (C>A) which is strongly associated with smoking, in 12/28 LCs. The burden test over rare germline variants in S1-LC vs CP identified 248 genes. Validation confirmed GSN as significantly associated with LC in never-smokers. In conclusion, our data suggest two signatures involved in LC onset in women with previous BC. One of these signatures is linked to smoking. Conversely, regardless of smoking habit, in a subgroup of BC survivors genetic susceptibility may contribute to LC risk.

Investigation of the role of vitamin D metabolism in South African breast cancer patients using whole exome sequencing

The Breast ◽  
2019 ◽  
Vol 44 ◽  
pp. S36
Author(s):  
A. Okunola ◽  
R. Torrorey-Sawe ◽  
K.J. Baatjes ◽  
A.E. Zemlin ◽  
R.T. Erasmus ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Vitamin D ◽  
Exome Sequencing ◽  
Cancer Patients ◽  
South African ◽  
Whole Exome Sequencing ◽  
Breast Cancer Patients ◽  
Vitamin D Metabolism ◽  
Whole Exome

Whole exome sequencing (WES) in HER2+ metastatic breast cancer (MBC) patients (pts) with extraordinary responses to trastuzumab (T).

2015 ◽  
Vol 33 (15_suppl) ◽  
pp. 611-611
Author(s):  
Ines Maria Vaz Duarte Luis ◽  
Coyin Oh ◽  
Zhigang Wang ◽  
Pamela Dipiro ◽  
Erin Macrae Macrae ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Metastatic Breast Cancer ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Metastatic Breast ◽  
Whole Exome

SEARCHING FOR MISSING HERITABILITY FOR BREAST CANCER BY WHOLE EXOME SEQUENCING: EVALUATION OF VARIANT PATHOGENICITY AND SELECTION OF CANDIDATE MUTATIONS

2018 ◽  
Vol 64 (3) ◽  
pp. 310-318
Author(s):  
Yekaterina Kuligina ◽  
Anna Sokolenko ◽  
Ilya Bizin ◽  
Aleksandr Ivantsov ◽  
Yevgeniy Imyanitov ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Protein Interactions ◽  
Germ Line ◽  
Great Promise ◽  
Cancer Genes ◽  
Whole Exome ◽  
Increased Risk ◽  
Germ Line Mutations

Approximately 10 % of breast cancer (BC) incidence is attributed to inherited germ-line mutations in tumor suppressor genes, and about a half of all hereditary BC cases remain unexplained by known genetic determinants. Whole exome sequencing (WES) offers great promise for the identification of novel hereditary cancer genes, however the interpretation of disease-causing significance for newly identified variants presents a challenge. Here we present the results of WES analysis of 32 hereditary BC patients with unknown causative mutations. In total, 52070 germ-line genetic variants were identified. We designed a special selection algorithm, which uses a sequence of filtering steps for highlighting probably pathogenic mutations. The pipeline is capable to compute minor allele frequencies (MAF) based on public databases; to estimate the potential pathogenicity of mutation according to CADD-database; to summarize the data regarding the gene functions, its pattern of expression and protein interactions networks. As a result we assembled the list of 245 potentially deleterious germ-line mutations probably associated with increased risk of BC. Some of these variants were validated in a case-control study. For example, homozygous missense substitution BRCA1 p.Gln356Arg was detected in 0.9 % of consecutive BC cases; it was associated with 7-fold increased BC risk (95 % CI: 0.83 - 54.83). This finding supports the existence of recessive inheritance of breast cancer predisposition.

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