scholarly journals Familial Breast Cancer: Disease Related Gene Mutations and Screening Strategies for Chinese Population

2021 ◽  
Vol 11 ◽  
Author(s):  
Lu Shen ◽  
Shizhen Zhang ◽  
Kaiyue Wang ◽  
Xiaochen Wang
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Chinese Population ◽  
Familial Breast Cancer ◽  
High Risk Patient ◽  
Gene Mutations ◽  
Genetic Syndromes ◽  
Cancer Disease ◽  
Pubmed Database ◽  
Screening Strategies

BackgroundAbout 5%–10% of the breast cancer cases have a hereditary background, and this subset is referred to as familial breast cancer (FBC). In this review, we summarize the susceptibility genes and genetic syndromes associated with FBC and discuss the FBC screening and high-risk patient consulting strategies for the Chinese population.MethodsWe searched the PubMed database for articles published between January 2000 and August 2021. Finally, 380 pieces of literature addressing the genes and genetic syndromes related to FBC were included and reviewed.ResultsWe identified 16 FBC-related genes and divided them into three types (high-, medium-, and low-penetrance) of genes according to their relative risk ratios. In addition, six genetic syndromes were found to be associated with FBC. We then summarized the currently available screening strategies for FBC and discussed those available for high-risk Chinese populations.ConclusionMultiple gene mutations and genetic disorders are closely related to FBC. The National Comprehensive Cancer Network (NCCN) guidelines recommend corresponding screening strategies for these genetic diseases. However, such guidelines for the Chinese population are still lacking. For screening high-risk groups in the Chinese population, genetic testing is recommended after genetic counseling.

scholarly journals Mutations in the genes of glutathione-S-transferase in patients with breast cancer and their close relatives living in chernivtsi region

2014 ◽  
Vol 18 (4 (72)) ◽  
Author(s):  
T. V. Kruk ◽  
O. P. Peresunko ◽  
R. A. Volkov
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Prognostic Factor ◽  
Blood Plasma ◽  
Genetic Marker ◽  
Molecular Genetic ◽  
Gene Mutations ◽  
Glutathione S Transferase ◽  
High Risk Disease ◽  
Close Relatives

Based on genotyping study of two variants (GSTP1 and GSTT1) of gene mutations glutathione-Stransferase (GST) in the blood plasma of patients with breast cancer, relatives of I degree of kinship and healthy women of Chernivtsi region, we made a conclusion as to the usefulness of this study as additional molecular genetic marker, determining high-risk disease as a prognostic factor for further observation and specifying diagnostics.

scholarly journals Identification of Recurrent Variants in BRCA1 and BRCA2 across Multiple Cancers in the Chinese Population

2020 ◽  
Vol 2020 ◽  
pp. 1-11
Author(s):  
Yue Jiang ◽  
Ting Tian ◽  
Chengxiao Yu ◽  
Wen Zhou ◽  
Junzhe Yang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Hepatocellular Carcinoma ◽  
Cervical Cancer ◽  
Genetic Screening ◽  
Chinese Population ◽  
Familial Breast Cancer ◽  
Cervical Cancer Patient ◽  
Breast Cancer Cell Lines ◽  
Brca1 And Brca2 ◽  
Pathogenic Variants

BRCA1 and BRCA2 as important DNA repair genes have been thoroughly investigated in abundant studies. The potential relationships of BRCA1/2 pathogenic variants between multicancers have been verified in Caucasians but few in Chinese. In this study, we performed a two-stage study to screen BRCA1/2 pathogenic variants or variants of uncertain significance (VUS) with 7580 cancer cases and 4874 cancer-free controls, consisting of a discovery stage with 70 familial breast cancer cases and a subsequent validation stage with 7510 cases (3217 breast cancer, 1133 cervical cancer, 2044 hepatocellular carcinoma, and 1116 colorectal cancer). 48 variants were obtained from 70 familial breast cancer cases after BRCA1/2 exon detection, and finally, 20 pathogenic variants or VUS were selected for subsequent validation. Four recurrent variants in sporadic cases (BRCA1 c.4801A>T, BRCA1 c.3257del, BRCA1 c.440del, and BRCA2 c.7409dup) were identified and three of them were labeled Class 5 by ENIGMA. Two variants (BRCA1 c.3257del and c.440del) were specific in breast cancer cases, while BRCA2 c.7409dup and c.4307T>C were detected in two hepatocellular carcinoma patients and the BRCA1 c.4801A>T variant in one cervical cancer patient, respectively. Moreover, BRCA1 c.3257del was the most frequent variant observed in Chinese sporadic breast cancer and showed increased proliferation of BRCA1c.3257del-overexpressing triple-negative breast cancer cell lines (MDA-MB-231) in vitro. In addition to the known founder deleterious mutations, our findings highlight that the recurrently pathogenic variants in breast cancer cases could be taken as candidate genetic screening loci for a more efficient genetic screening of the Chinese population.

scholarly journals PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo

2014 ◽  
Vol 16 (9) ◽  
pp. 688-694 ◽  
Author(s):  
Irene Catucci ◽  
Paolo Peterlongo ◽  
Sara Ciceri ◽  
Mara Colombo ◽  
Graziella Pasquini ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Familial Breast Cancer

PALB2 mutations in Brazilian patients from North-Northeast regions.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e13670-e13670
Author(s):  
Thamara Ferreira ◽  
Thais Ferreira Bomfim-Palma ◽  
Isabelle Joyce de Lima Silva-Fernandes ◽  
Gabriela Espirito Santo Felix ◽  
Inacelli Queiroz De Souza Caires ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Male Breast Cancer ◽  
Clinical Management ◽  
Susceptibility Gene ◽  
High Risk Patient ◽  
Male Breast ◽  
The North ◽  
Number Of Patients ◽  
Increased Risk

e13670 Background: Loss-of-function mutations in PALB2 gene are associated with increased risk for breast cancer and possibly pancreatic, ovarian, male breast, prostate, colorectal as others cancers. In Brazil it has been estimated that up to 1,516 new cases of hereditary breast cancer for 2020 in the North and Northeast regions. Analysis of susceptibility gene mutations helps identify precisely the high-risk patient and their families, whom need specific and personalized clinical management as high-risk individuals. Methods: Twenty-six patients with pathogenic mutations in PALB2 gene identify by next-generation sequencing from states of Bahia (11), Ceará (9), Pernambuco (5) and Rondônia (1) in the North and Northeast regions were analyzed. Results: Most of the patients analyzed had only breast cancer (80%), including two cases of male breast cancer (9,5%); the others were isolated cases of endometrial cancer (4%), breast and pancreas cancers (4%), breast and lung cancers (4%), only ovarian cancer (4%) and ovarian and breast cancers (4%). Most cancers were stage II or III (65%). Family history of cancer was observed in 22/26 (84%); the most common tumors were breast, prostate, pancreas and thyroid. The founder mutations were more frequent in exons: 4 (58%) and 12 (15%). Eleven variants were found as follow: c.1240C > T (19%); c.3256delC (15%); c.1671_1674delTATT (11.5%); c.355delC (11.5%); NC_000016.9:g.(?_23632673)_(23652488_?)del (11,5%). The greatest variety of mutations was found in the state of Bahia, probably due to the greater number of patients included (42%). Conclusions: These data suggest that changes in clinical management of PALB2 patients are needed since the phenotype observed exhibited pattern of hereditary tumors, including male breast cancer. Besides that, PALB2 gene should be included in painel gene analysis in patients from the North and Northeast of Brazil because its high frequency of pathogenic variants.

scholarly journals A Role for Common Genomic Variants in the Assessment of Familial Breast Cancer

2012 ◽  
Vol 30 (35) ◽  
pp. 4330-4336 ◽  
Author(s):  
Sarah Sawyer ◽  
Gillian Mitchell ◽  
Joanne McKinley ◽  
Georgia Chenevix-Trench ◽  
Jonathan Beesley ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Familial Breast Cancer ◽  
Brca2 Mutation ◽  
Mutation Screening ◽  
Polygenic Risk Score ◽  
Genome Wide Association Studies ◽  
Polygenic Risk ◽  
Genomic Variants ◽  
Risk Distribution

Purpose Genome-wide association studies have identified common genomic variants associated with increased susceptibility to breast cancer. In the general population, the risk associated with these known variants seems insufficient to inform clinical management. Their contribution to the development of familial breast cancer is less clear. Patients and Methods We studied 1,143 women with breast cancer who had completed BRCA1 and BRCA2 mutation screening as a result of a high risk for hereditary breast cancer. Genotyping of 22 breast cancer–associated genomic variants was performed. A polygenic risk score (PRS), calculated as the sum of the log odds ratios for each allele, was compared with the same metric in 892 controls from the Australian Ovarian Cancer Study. The clinical features associated with the high and low ends of the polygenic risk distribution were compared. Results Women affected by familial breast cancer had a highly significant excess of risk alleles compared with controls (P = 1.0 × 10−16). Polygenic risk (measured by the PRS) was greater in women who tested negative for a BRCA1 or BRCA2 mutation compared with mutation carriers (P = 2.3 × 10−6). Non-BRCA1/2 women in the top quartile of the polygenic risk distribution were more likely to have had early-onset breast cancer (< 30 years of age, odds ratio [OR]= 3.37, P = .03) and had a higher rate of second breast cancer (OR 1.96, P = .02) compared with women with low polygenic risk. Conclusion Genetic testing for common risk variants in women undergoing assessment for familial breast cancer may identify a distinct group of high-risk women in whom the role of risk-reducing interventions should be explored.

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