Breast cancer (BC) genetics has become a fundamental aspect of BC management. It influences screening, follow-up, prophylactic and therapeutic recommendations in women harboring a germinal BC susceptibility gene. In addition, it helps to identify patient subgroups with either a different prognosis or different response to treatment.
Breast Cancer Risk Genes
Protein-truncating variants in 5 genes (ATM, BRCA1, BRCA2, CHEK2, and PALB2) were associated with a risk of breast cancer overall with a P value of less than .0001.Protein-truncating variants in ...
Comprehensive genomic profiling of breast cancers ...
To evaluate breast cancer predisposition genes in the Chinese population, we performed a population-based case‒control study, identifying five genes significantly correlated with breast cancer ...
An in-silico method leads to recognition of hub genes and crucial
Breast cancer is the second most frequent and the fifth cause of cancer-associated mortality 1.This type of cancer is associated with dysregulation of several genes (including both coding and non ...
A Population-Based Study of Genes Previously Implicated in Breast Cancer
Pathogenic variants in 12 established breast cancer-predisposition genes were detected in 5.03% of case patients and in 1.63% of controls. Pathogenic variants in BRCA1 and BRCA2 were associated ...
Comprehensive molecular portraits of human breast tumours
Significantly mutated genes in breast cancer. Overall, 510 tumours from 507 patients were subjected to whole-exome sequencing, identifying 30,626 somatic mutations comprised of 28,319 point ...
Cancer genetics and breast cancer
Best Practice & Research Clinical Obstetrics & Gynaecology. Volume 82, June 2022, Pages 3-11. 1. Cancer genetics and breast cancer. ... BRCA1 and BRCA2 are the two most well-known hereditary breast cancer genes, and pathogenic variants in these genes are found in 5-10% of breast cancer patients [11].
Genetic determinants of breast cancer risk
Genetic variants are important contributors to breast cancer risk and can classified into three groups based on population frequency and penetrance; rare, high-risk (>4-fold increased risk), rare, moderate-risk (2-4 fold increased risk) and common, low-risk (<2 fold increased risk) [5].Variants in the two major breast cancer susceptibility genes, BRCA1 and BRCA2, confer the highest risk (10 ...
New concepts in breast cancer genomics and genetics
Significantly mutated genes versus background mutations in breast cancer. Sequencing of DNA and RNA from tumors by using massively parallel sequencing with a capture or other sequence selection approach (exomes or candidate genes) or unbiased 'whole genome' approach has become a standard research tool now that the technology has been extensively commercialized []-[].
Breast Cancer Genetics: Diagnostic and Treatment 2022
Breast Cancer Genetics: Diagnostic and Treatment 2022. Print Special Issue Flyer. Special Issue Editors. Special Issue Information. Keywords. Published Papers. A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Genetic Diagnosis". Deadline for manuscript submissions: closed (15 September 2022) | Viewed by 6305.
Changes in Gene Network Interactions in Breast Cancer Onset and
Gene co-expression network analysis can provide novel insight into gene-gene interactions associated with important biological processes involved in cancer that go undetected in standard genetic analyses and may help identify promising new targets for cancer therapy. RNA-seq count data of breast cancer subtypes (Luminal A, Luminal B, and ...
Breast cancer
The lifetime risk for breast cancer in men is 1 in 833 compared with 1 in 10 for a woman. Of affected men, 20% have a first-degree family history of cancer; 4-14% of cases in males are ...
Integration of multiomics analyses reveals unique insights ...
Breast cancer is a malignant tumor that occurs in the breast tissue, usually originating in the glandular tissue of the breast, and can develop in various parts of the breast such as the breast lobules, ducts and glandular interstitium [].According to the latest global cancer statistics published by the World Health Organization's International Agency for Research on Cancer (WHO) in 2020 ...
Breast Cancer Research Articles
Posted: January 20, 2023. Many young women who are diagnosed with early-stage breast cancer want to become pregnant in the future. New research suggests that these women may be able to pause their hormone therapy for up to 2 years as they try to get pregnant without raising the risk of a recurrence in the short term.
Targeted genotyping for recurring variants in cancer susceptibility
Cancer is an international interdisciplinary journal publishing articles on the latest clinical cancer research findings, spanning the breadth of oncology disciplines. Abstract Purpose Several recurring pathogenic variants (PVs) in BRCA1/BRCA2 and additional cancer susceptibility genes are described in the ethnically diverse Israeli population.
Exploring research progress in studying serum exosomal miRNA ...
Breast cancer is a malignancy characterized by the malignant hyperplasia of ductal and acinar epithelium throughout the mammary gland. The precise etiology of this disease remains unclear, and its pathogenesis is likely influenced by various factors such as genetic predisposition, levels of reproductive and sex hormones, polygenic variations, and disorders in immunological regulation.
Population Genomics: Personalizing Genetic Breast Cancer Screening
Our research supports the inclusion of predicted loss-of-function variants in PALB2, ATM, and CHEK2, in addition to BRCA1 and BRCA2, for assessing breast cancer risk.These five genes led to a significant increase in an individual's risk of breast cancer with PALB2 in particular having an impact similar to that of BRCA1 or BRCA2. 3.
The ten genes for breast (and ovarian) cancer susceptibility
Metrics. ATM, BRCA1, BRCA2, CHEK2, PALB2 and TP53 are all established breast cancer susceptibility genes. Over the past 30 years, many other genes have been proposed as candidates. In these two ...
Machine-learning analysis reveals an important role for negative
Aneuploidy, defined as an abnormal number of chromosomes or chromosome-arms within a cell, is a characteristic trait of human cancer [].Aneuploidy is associated with patient prognosis and with response to anticancer therapies [2, 3], indicating that it can play a driving role in tumorigenesis.It is well established that the fitness advantage conferred by specific aneuploidies depends on the ...
BRCA1 and Breast Cancer: Molecular Mechanisms and Therapeutic
Introduction. Breast cancer (BC) is the most common malignancy all over the world, accounting for 11.7% of new cancer cases (Sung et al., 2021).Up to 7% of unselected BC patients have a definite germline genetic mutation called hereditary breast cancer (HBC) (Claus et al., 1996).Among them, breast cancer susceptibility gene 1 (BRCA1) is one of the most common tumor suppressor genes, which ...
Mutation spectrum of homologous recombination repair genes in early
Semantic Scholar extracted view of "Mutation spectrum of homologous recombination repair genes in early triple-negative breast cancer: association with clinicopathological factors, immune infiltration, and prognosis" by Y. Lu et al. ... Showing 1 through 3 of 0 Related Papers. ... Semantic Scholar is a free, AI-powered research tool for ...
Type 2 diabetes genetically linked to breast, bowel and pancreatic cancer
PA. Type 2 diabetes - which affects millions of Britons - shares genetic connections with breast, bowel and pancreatic cancer, scientists say. A new study showed how genetic variants, which ...
DASH diet may lower the risk of cardiovascular disease in breast cancer
A new paper in JNCI Cancer Spectrum, published by Oxford University Press, finds that following a healthy diet lowers the risk of cardiovascular disease in breast cancer survivors.. Cardiovascular ...
Genetics of breast cancer: a topic in evolution
A hereditary predisposition to breast cancer significantly influences screening and follow-up care for high-risk women. A specific predisposing gene is identified in <30% of cases, the majority of which are due to a rare high-penetrance gene mutation. Risk management guidelines are based on both clinical and genomic information.
COMMENTS
Breast cancer (BC) genetics has become a fundamental aspect of BC management. It influences screening, follow-up, prophylactic and therapeutic recommendations in women harboring a germinal BC susceptibility gene. In addition, it helps to identify patient subgroups with either a different prognosis or different response to treatment.
Protein-truncating variants in 5 genes (ATM, BRCA1, BRCA2, CHEK2, and PALB2) were associated with a risk of breast cancer overall with a P value of less than .0001.Protein-truncating variants in ...
To evaluate breast cancer predisposition genes in the Chinese population, we performed a population-based case‒control study, identifying five genes significantly correlated with breast cancer ...
Breast cancer is the second most frequent and the fifth cause of cancer-associated mortality 1.This type of cancer is associated with dysregulation of several genes (including both coding and non ...
Pathogenic variants in 12 established breast cancer-predisposition genes were detected in 5.03% of case patients and in 1.63% of controls. Pathogenic variants in BRCA1 and BRCA2 were associated ...
Significantly mutated genes in breast cancer. Overall, 510 tumours from 507 patients were subjected to whole-exome sequencing, identifying 30,626 somatic mutations comprised of 28,319 point ...
Best Practice & Research Clinical Obstetrics & Gynaecology. Volume 82, June 2022, Pages 3-11. 1. Cancer genetics and breast cancer. ... BRCA1 and BRCA2 are the two most well-known hereditary breast cancer genes, and pathogenic variants in these genes are found in 5-10% of breast cancer patients [11].
Genetic variants are important contributors to breast cancer risk and can classified into three groups based on population frequency and penetrance; rare, high-risk (>4-fold increased risk), rare, moderate-risk (2-4 fold increased risk) and common, low-risk (<2 fold increased risk) [5].Variants in the two major breast cancer susceptibility genes, BRCA1 and BRCA2, confer the highest risk (10 ...
Significantly mutated genes versus background mutations in breast cancer. Sequencing of DNA and RNA from tumors by using massively parallel sequencing with a capture or other sequence selection approach (exomes or candidate genes) or unbiased 'whole genome' approach has become a standard research tool now that the technology has been extensively commercialized []-[].
Breast Cancer Genetics: Diagnostic and Treatment 2022. Print Special Issue Flyer. Special Issue Editors. Special Issue Information. Keywords. Published Papers. A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Genetic Diagnosis". Deadline for manuscript submissions: closed (15 September 2022) | Viewed by 6305.
Gene co-expression network analysis can provide novel insight into gene-gene interactions associated with important biological processes involved in cancer that go undetected in standard genetic analyses and may help identify promising new targets for cancer therapy. RNA-seq count data of breast cancer subtypes (Luminal A, Luminal B, and ...
The lifetime risk for breast cancer in men is 1 in 833 compared with 1 in 10 for a woman. Of affected men, 20% have a first-degree family history of cancer; 4-14% of cases in males are ...
Breast cancer is a malignant tumor that occurs in the breast tissue, usually originating in the glandular tissue of the breast, and can develop in various parts of the breast such as the breast lobules, ducts and glandular interstitium [].According to the latest global cancer statistics published by the World Health Organization's International Agency for Research on Cancer (WHO) in 2020 ...
Posted: January 20, 2023. Many young women who are diagnosed with early-stage breast cancer want to become pregnant in the future. New research suggests that these women may be able to pause their hormone therapy for up to 2 years as they try to get pregnant without raising the risk of a recurrence in the short term.
Cancer is an international interdisciplinary journal publishing articles on the latest clinical cancer research findings, spanning the breadth of oncology disciplines. Abstract Purpose Several recurring pathogenic variants (PVs) in BRCA1/BRCA2 and additional cancer susceptibility genes are described in the ethnically diverse Israeli population.
Breast cancer is a malignancy characterized by the malignant hyperplasia of ductal and acinar epithelium throughout the mammary gland. The precise etiology of this disease remains unclear, and its pathogenesis is likely influenced by various factors such as genetic predisposition, levels of reproductive and sex hormones, polygenic variations, and disorders in immunological regulation.
Our research supports the inclusion of predicted loss-of-function variants in PALB2, ATM, and CHEK2, in addition to BRCA1 and BRCA2, for assessing breast cancer risk.These five genes led to a significant increase in an individual's risk of breast cancer with PALB2 in particular having an impact similar to that of BRCA1 or BRCA2. 3.
Metrics. ATM, BRCA1, BRCA2, CHEK2, PALB2 and TP53 are all established breast cancer susceptibility genes. Over the past 30 years, many other genes have been proposed as candidates. In these two ...
Aneuploidy, defined as an abnormal number of chromosomes or chromosome-arms within a cell, is a characteristic trait of human cancer [].Aneuploidy is associated with patient prognosis and with response to anticancer therapies [2, 3], indicating that it can play a driving role in tumorigenesis.It is well established that the fitness advantage conferred by specific aneuploidies depends on the ...
Introduction. Breast cancer (BC) is the most common malignancy all over the world, accounting for 11.7% of new cancer cases (Sung et al., 2021).Up to 7% of unselected BC patients have a definite germline genetic mutation called hereditary breast cancer (HBC) (Claus et al., 1996).Among them, breast cancer susceptibility gene 1 (BRCA1) is one of the most common tumor suppressor genes, which ...
Semantic Scholar extracted view of "Mutation spectrum of homologous recombination repair genes in early triple-negative breast cancer: association with clinicopathological factors, immune infiltration, and prognosis" by Y. Lu et al. ... Showing 1 through 3 of 0 Related Papers. ... Semantic Scholar is a free, AI-powered research tool for ...
PA. Type 2 diabetes - which affects millions of Britons - shares genetic connections with breast, bowel and pancreatic cancer, scientists say. A new study showed how genetic variants, which ...
A new paper in JNCI Cancer Spectrum, published by Oxford University Press, finds that following a healthy diet lowers the risk of cardiovascular disease in breast cancer survivors.. Cardiovascular ...
A hereditary predisposition to breast cancer significantly influences screening and follow-up care for high-risk women. A specific predisposing gene is identified in <30% of cases, the majority of which are due to a rare high-penetrance gene mutation. Risk management guidelines are based on both clinical and genomic information.