BRCA1 and BRCA2: different roles in a common pathway of genome protection

Roy, Rohini; Chun, Jarin; Powell, Simon N.

doi:10.1038/nrc3181

Cited by 1,143 publications

(1,113 citation statements)

References 104 publications

(133 reference statements)

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“…In North-Eastern region, the mutation of 3889DelAG is higher than the rest of the mutation found (Figure 1f), out of nine, three have the family history and found scattered in studied population; it also found in various populations of the world (Thirthagiri et al, 2008;Farooq et al, 2011). The location of 3889AG is towards the C terminus of BRCA1, within the transcriptional activation domain, a region as well reported to interact with the BRCA2 protein, which plays an important role in double stranded break (DSB) repair (Roy et al, 2012). Nevertheless, the number of mutations identified in the studied North-East Indian population is higher; it may be due to the selected candidate who comes under the three patterns of the study.…”

Section: Discussionmentioning

confidence: 88%

Screening of 185DelAG, 1014DelGT and 3889DelAG BRCA1 Mutations in Breast Cancer Patients from North-East India

Hansa

Kannan²,

Ghosh³

2012

Asian Pacific Journal of Cancer Prevention

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Around 1.35 million people of worldwide suffer from breast cancer each year, whereas in India, 1 in every 17 women develops the disease. Mutations of the Breast Cancer 1 (BRCA1) gene account for the majority of breast/ ovarian cancer families. The purpose of study was to provide a prevalence of BRCA1 germline mutations in the North-East Indian population. In relation to the personal and family history with the breast cancer, we found mutations in 6.25% and 12.5% respectively. Three mutations, 185DelAG, 1014DelGT and 3889DelAG, were observed in our North-East Indian patients in exons 2 and 11, resulting in truncation of the BRCA1 protein by forming stop codons individually at amino acid positions 39, 303 and 1265. Our results point to a necessity for an extensive mutation screening study of high risk breast cancer cases in our North-East Indian population, which will provide better decisive medical and surgical preventive options.

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Section: Discussionmentioning

confidence: 88%

Screening of 185DelAG, 1014DelGT and 3889DelAG BRCA1 Mutations in Breast Cancer Patients from North-East India

Hansa

Kannan²,

Ghosh³

2012

Asian Pacific Journal of Cancer Prevention

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“…However, there is very Xiao-Jun Shi 1,2 , William W Au 1,3 , Ku-Sheng Wu 1 , Lin-Xiang Chen 1 , Kun Lin 1 * limited information about tendency and prediction on these incidence and mortality of breast cancer in China. Consequently, Chinese scientists have to speculate on trends of dynamic changes about the standardized mortality rate, urban-rural differences and age differences by each province and city (Yang Ling et al, 2005;Chen et al, 2006;Roy et al, 2012;Chun et al, 2012;Powell et al, 2012). Prediction of the trends and identification of geographic patterns of breast cancer mortality, based on population and location, may provide impetus to conduct further investigations and can direct health resources for the development of more useful prevention and management policies.…”

Section: Introductionmentioning

confidence: 99%

Mortality Characteristics and Prediction of Female Breast Cancer in China from 1991 to 2011

Shi

Au²,

Wu³

et al. 2014

Asian Pacific Journal of Cancer Prevention

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Aims: To analyze time-dependent changes in female breast cancer (BC) mortality in China, forecast the trend in the ensuing 5 years, and provide recommendations for prevention and management. Materials and Methods: Mortality data of breast cancer in China from 1991 to 2011 was used to describe characteristics and distribution, such as the changes of the standardized mortality rate, urban-rural differences and age differences. Trendsurface analysis was used to study the geographical distribution of mortality. In addition, curve estimation, time series modeling, Gray modeling (GM) and joinpoint regression were performed to estimate and predict future trends. Results: In China, the mortality rate of breast cancer has increased yearly since 1991. In addition, our data predicted that the trend will continue to increase in the ensuing 5 years. Rates in urban areas are higher than those in rural areas. Over the past decade, all peak ages for death by breast cancer have been delayed, with the first death peak occurring at 55 to 65 years of age in urban and rural areas. Geographical analysis indicated that mortality rates increased from Southwest to Northeast and from West to East. Conclusions: The standardized mortality rate of breast cancer in China is rising and the upward trend is predicted to continue for the next 5 years. Since this can cause an enormous health impact in China, much better prevention and management of breast cancer is needed. Consequently, disease control centers in China should place more focus on the northeastern, eastern and southeastern parts of China for breast cancer prevention and management, and the key population should be among women between ages 55 to 65, especially those in urban communities.

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“…Loss of functional BRCA1 and BRCA2 in the tumor leads to an increase in genomic instability and increased copy number alterations [5]. HR deficiency has also been implicated in sporadic breast cancer, particularly TNBC, and suggested mechanisms include BRCA1 promoter methylation, mutation in HR-related genes including somatic mutations in BRCA1 and BRCA2, or other epigenetic mechanisms.…”

Section: Homologous Recombination Dna Repair Deficiency In Tnbcmentioning

confidence: 99%

Homologous recombination deficiency and host anti-tumor immunity in triple-negative breast cancer

Telli

Stover

Loi

et al. 2018

Breast Cancer Res Treat

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Purpose Triple-negative breast cancer (TNBC) is associated with worse outcomes relative to other breast cancer subtypes. Chemotherapy remains the standard-of-care systemic therapy for patients with localized or metastatic disease, with few biomarkers to guide benefit. Methods We will discuss recent advances in our understanding of two key biological processes in TNBC, homologous recombination (HR) DNA repair deficiency and host anti-tumor immunity, and their intersection. Results Recent advances in our understanding of homologous recombination (HR) deficiency, including FDA approval of PARP inhibitor olaparib for BRCA1 or BRCA2 mutation carriers, and host anti-tumor immunity in TNBC offer potential for new and biomarker-driven approaches to treat TNBC. Assays interrogating HR DNA repair capacity may guide treatment with agents inducing or targeting DNA damage repair. Tumor infiltrating lymphocytes (TILs) are associated with improved prognosis in TNBC and recent efforts to characterize infiltrating immune cell subsets and activate host anti-tumor immunity offer promise, yet challenges remain particularly in tumors lacking pre-existing immune infiltrates. Advances in these fields provide potential biomarkers to stratify patients with TNBC and guide therapy: induction of DNA damage in HR-deficient tumors and activation of existing or recruitment of host anti-tumor immune cells. Importantly, these advances provide an opportunity to guide use of existing therapies and development of novel therapies for TNBC. Efforts to combine therapies that exploit HR deficiency to enhance the activity of immune-directed therapies offer promise. Conclusions HR deficiency remains an important biomarker target and potentially effective adjunct to enhance immunogenicity of 'immune cold' TNBCs.

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BRCA1 and BRCA2: different roles in a common pathway of genome protection

Cited by 1,143 publications

References 104 publications

Screening of 185DelAG, 1014DelGT and 3889DelAG BRCA1 Mutations in Breast Cancer Patients from North-East India

Screening of 185DelAG, 1014DelGT and 3889DelAG BRCA1 Mutations in Breast Cancer Patients from North-East India

Mortality Characteristics and Prediction of Female Breast Cancer in China from 1991 to 2011

Homologous recombination deficiency and host anti-tumor immunity in triple-negative breast cancer

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