Chek2 Breast Cancer Prognosis

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Survival from breast cancer in patients with CHEK2 …

(1 days ago) The purpose of this study is to estimate 10-year survival rates for patients with early onset breast cancer, with and without a CHEK2 mutation and to identify prognostic factors among CHEK2-positive breast cancer patients. 3,592 women with stage I to stage III breast cancer, diagnosed at or below age 50, were tested for four founder mutations in the CHEK2 gene.

https://pubmed.ncbi.nlm.nih.gov/24557336/

Category:  Breast cancer Show Health

Prognostic Significance of CHEK2 Mutation in Progression

(1 days ago) Abstract. Breast cancer (BC) is one of the most common cancers among women; genetic mutations reflect the development of this disease. Mutations in cell signaling factors can be the main cause of BC development. In this study, we focused on mutations in checkpoint kinase 2 (CHEK2) and their impact as a prognostic factor in the pathogenesis of BC.

https://pubmed.ncbi.nlm.nih.gov/31220302/

Category:  Breast cancer Show Health

Prognostic Significance of CHEK2 Mutation in Progression

(6 days ago) However, in breast tumor cells, given the inactivation of BRCA due to c.1100delC mutation in CHEK2 to prevent the survival and proliferation of breast tumor cells by PARP, anti-PARP antibody is used to cause apoptosis of these cells. 52, 53 Therefore, we state that c.1100delC mutation in CHEK2 is able to disrupt the apoptosis of BC cells, which

https://academic.oup.com/labmed/article/50/3/e36/5429322

Category:  Cancer Show Health

Current perspectives on CHEK2 mutations in breast cancer

(3 days ago) CHEK2 in cancer. CHEK2 germline mutations had been implicated in inherited cancer susceptibility a few years ago. Different mutations of CHEK2 were detected among patients with Li–Fraumeni syndrome. 6 Furthermore, mutations of this gene were correlated with other types of cancer. Male carriers have a higher risk for prostate cancer, as CHEK2 overexpression decreases …

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5439543/

Category:  Cancer Show Health

CHEK2 Mutation and Cancer Risk - Proceedings

(1 days ago) Among patients with family history of breast cancer that test negative for BRCA1 and BRCA2, 12% demonstrate a large genomic deletion or duplication of one of these genes, and approximately 5% demonstrate a mutation to CHEK2 or TP53.4 The lifetime risk for breast cancer for a woman with CHEK2 mutation and no family history is around 20%.5 This

https://proceedings.med.ucla.edu/wp-content/uploads/2021/01/Gee-A201111MG-BLM-formatted.pdf

Category:  Breast cancer Show Health

Cancer treatment and CHEK2 gene mutations

(2 days ago) The following cancer treatment studies are open to people with a CHEK2 mutation. Breast cancer. NCT02401347: Talazoparib Beyond BRCA (TBB) Trial. The goal of the study is to evaluate the anti-cancer activity of the PARP inhibitor, in patients with advanced breast cancer.

https://www.facingourrisk.org/info/hereditary-cancer-and-genetic-testing/hereditary-cancer-genes-and-risk/genes-by-name/chek2/cancer-treatment

Category:  Breast cancer Show Health

Patient survival and tumor characteristics associated with

(3 days ago) P.I157T is a CHEK2 missense mutation associated with a modest increase in breast cancer risk. Previously, another CHEK2 mutation, the protein truncating c.1100delC has been associated with poor prognosis of breast cancer patients. Here, we have investigated patient survival and characteristics of breast tumors of germ line p.I157T carriers. We included in the analyses 26,801 …

https://breast-cancer-research.biomedcentral.com/articles/10.1186/s13058-016-0758-5

Category:  Breast cancer Show Health

10-year survival by lymph node status, CHEK2 carriers …

(1 days ago) The purpose of this study is to estimate 10-year survival rates for patients with early onset breast cancer, with and without a CHEK2 mutation and to identify prognostic factors among CHEK2

https://researchgate.net/figure/year-survival-by-lymph-node-status-CHEK2-carriers-only_fig2_260382570

Category:  Breast cancer Show Health

What You Need to Know About The CHEK2 Mutation …

(6 days ago) If you carry a mutation on the CHEK2 gene it could mean you are at increased risk for breast cancer, ovarian cancer, prostate cancer, colon …

https://www.everydayhealth.com/cancer/risk-genes-everything-you-need-know-about-chek2/

Category:  Breast cancer Show Health

What is CHEK2? Dana-Farber Cancer Institute

(9 days ago) Without a properly functioning CHEK2 gene, cells lose a key restraint on their growth and may be a step closer to the unbridled division that is characteristic of cancer. CHEK2 mutations are found in a variety of cancer types, including breast, colon, prostate, kidney, thyroid, and other cancers, according to the National Institutes of Health.

https://blog.dana-farber.org/insight/2019/08/what-is-chek2/

Category:  Cancer Show Health

(PDF) Survival from breast cancer in patients with CHEK2

(1 days ago) The purpose of this study is to estimate 10-year survival rates for patients with early onset breast cancer, with and without a CHEK2 mutation and to identify prognostic factors among CHEK2

https://www.researchgate.net/publication/260382570_Survival_from_breast_cancer_in_patients_with_CHEK2_mutations

Category:  Breast cancer Show Health

Is CHEK2 a moderate-risk breast cancer gene or the younger

(8 days ago) The CHEK2 gene is mostly considered as a moderate breast cancer gene with the result that many clinicians have a narrow focus. We present the 10-year journey of a man who had five different cancers and had iterative genetic testing including for Li-Fraumeni syndrome, eventually to discover a pathogenic variant in the CHEK2 gene, possibly explaining his numerous cancers. This diagnosis

https://casereports.bmj.com/content/13/9/e236435

Category:  Breast cancer Show Health

Cancer risk management and CHEK2 gene mutations

(1 days ago) There are no current guidelines on breast cancer screening for men with a CHEK2 mutation. Men should speak with their doctor about the benefits and risks of screening. Colon cancer screening and prevention. Colonoscopy every 5 years beginning at age 40 (or 5-10 years earlier than the age of diagnosis of a close relative with colon cancer).

https://www.facingourrisk.org/info/hereditary-cancer-and-genetic-testing/hereditary-cancer-genes-and-risk/genes-by-name/chek2/risk-management

Category:  Breast cancer Show Health

Pathogenic Variants in CHEK2 Are Associated With an

(9 days ago) Because a pathogenic CHEK2 variant is likely to be identified in approximately 2% of white patients with breast cancer, including those age ≤ 40 years, clinicians should be aware of the adverse prognosis and potential effect of family history on contralateral cancer risk in planning cancer treatment. Our findings also highlight the importance

https://ascopubs.org/doi/full/10.1200/PO.19.00178

Category:  Breast cancer Show Health

Tumour characteristics and prognosis of breast cancer

(7 days ago) Background: The germline CHEK2 *1100delC variant has been associated with breast cancer in multiple case families where involvement of BRCA1 and BRCA2 has been excluded. Methods: We have investigated the tumour characteristics and prognosis of carriers of this germline variant by means of a prospective cohort study in an unselected cohort of 1084 consecutive patients with …

https://jmg.bmj.com/content/41/10/731

Category:  Breast cancer Show Health

CHEK2 gene - Myriad Genetics

(3 days ago) 8. CHEK2 Breast Cancer Case-Control Consortium. CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet. 2004 74:1175-82. PMID: 15122511. 9. Kriege M, et al. Survival and contralateral breast cancer in CHEK2 1100delC breast cancer

https://services.myriad.com/clinical-summaries/gene-pdf.php?gene=CHEK2&allele=1

Category:  Breast cancer Show Health

What is CHEK2? Experts discuss gene linked with breast and

(8 days ago) CHEK2 serves the body as a tumor suppressor, but when it’s mutated, it can be linked to numerous cancers, like breast and prostate cancer. As genetic testing becomes more …

https://www.today.com/health/what-chek2-experts-discuss-gene-linked-breast-prostate-cancer-t230449

Category:  Cancer Show Health

CHEK2 Mutation and Hereditary Breast Cancer Journal of

(4 days ago) Two articles in the Journal of Clinical Oncology focus our attention on the presentation and clinical outcomes in women with breast cancer and a CHEK2 mutation. 1,2 A recurrent mutation in the CHEK2 gene (1100delC) was first reported to be an important cause of breast cancer by Meijers-Heijboer et al 3 in 2002. Since then, numerous studies have documented the prevalence of this single …

https://ascopubs.org/doi/full/10.1200/JCO.2006.08.8229

Category:  Breast cancer Show Health

Survival and contralateral breast cancer in CHEK2 1100delC

(2 days ago) The frequency of the CHEK2 1100delC mutation is relatively high in the Netherlands, being ∼ 1% in the general population, 2–4% in unselected breast cancer patients and 5–6% in …

https://www.nature.com/articles/bjc2014306

Category:  Breast cancer Show Health

CHEK2 Cancer Genetics Web

(4 days ago) CHEK2; checkpoint kinase 2. Aliases: CDS1, CHK2, LFS2, RAD53, hCds1, HuCds1, PP1425. Location: 22q12.1. Summary: In response to DNA damage and replication blocks, cell cycle progression is halted through the control of critical cell cycle regulators. The protein encoded by this gene is a cell cycle checkpoint regulator and putative tumor

http://www.cancerindex.org/geneweb/CHEK2.htm

Category:  Cancer Show Health

Beyond BRCA and breast cancer risk

(8 days ago) Kate Drabinski was diagnosed with breast cancer at age 42. Her twin sister received the same diagnosis several months later. Both women have a germline mutation in the CHEK2 gene which helped to drive their cancers. “With CHEK2, if you have cancer in your family, it makes the mutation risk much higher,” Drabinski said.

https://www.fredhutch.org/en/news/center-news/2021/11/beyond-brca-breast-cancer-risk-genetics.html

Category:  Breast cancer Show Health

Breast tumors from CHEK2 1100delC- mutation carriers

(3 days ago) Survival effect of 188 differentially expressed genes. We further tested whether the 188 CHEK2 1100delC-related genes (Additional file 7) might be associated with breast cancer prognosis.Based on their expression levels in the Helsinki and Uppsala gene-expression data sets, it was possible to divide the tumors into groups with different survival rates of the patients.

https://breast-cancer-research.biomedcentral.com/articles/10.1186/bcr3015

Category:  Breast cancer Show Health

About Mutations in the CHEK2 Gene Memorial Sloan

(8 days ago) A CHEK2 gene mutation increases your risk for certain types of cancers. Your cancer risk may be different depending on the specific CHEK2 mutation you have. Most CHEK2 mutations increase your risk for breast cancer. Some of the most common CHEK2 mutations slightly increase your risk for colorectal (colon and rectal) cancer.

https://www.mskcc.org/cancer-care/patient-education/about-mutations-chek2-gene

Category:  Breast cancer Show Health

3701-CHEK2 – risk management (female) eviQ

(5 days ago) Breast Risk assessment. Most women with a CHEK2 gene truncating pathogenic variant will be at moderately increased risk of breast cancer. r For women with a CHEK2 gene truncating pathogenic variant and family history of breast cancer, risk should be formally assessed using a validated risk prediction tool such as CanRisk. r High-risk management only applies when the estimated 5-year …

https://www.eviq.org.au/cancer-genetics/adult/risk-management/3701-chek2-risk-management-female

Category:  Breast cancer Show Health

Comprehensive analysis of the ATM, CHEK2 and ERBB2 genes

(3 days ago) Methods. We performed a comprehensive haplotype analysis of the ATM, CHEK2 and ERBB2 genes in a Swedish population-based study, which included 1,579 breast cancer cases and 1,516 controls.We followed the cases for 8.5 years, on average, and retrieved information on the date and cause of death during that period from the nationwide Swedish causes of death registry.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1797028/

Category:  Breast cancer Show Health

Risk for contralateral breast cancer among carriers of the

(1 days ago) Risk for contralateral breast cancer among carriers of the CHEK2*1100delC mutation in the WECARE Study L Mellemkjær*,1, C Dahl 2, JH Olsen 1, L Bertelsen , P Guldberg , J Christensen , A-L Børresen-Dale3,4, M Stovall5, B Langholz6, L Bernstein6, CF Lynch7, KE Malone8, RW Haile6, M Andersson9, DC Thomas6, P Concannon10, M Capanu11, JD Boice Jr12,13, The WECARE Study Collaborative …

http://skiweb.mskcc.org/WeCare/Publication/Lene.pdf

Category:  Breast cancer Show Health

Current perspectives on CHEK2 mutations in breast cancer

(8 days ago) Mutations of CHEK2 have been implicated in various types of cancer including breast cancer. The present article reviews the most recent advances in research on CHEK2 and breast cancer, focusing on mutations and how they could be correlated with diagnosis or prognosis of the disease. CHEK2 gene. CHEK2 gene is activated by phosphorylation of

https://www.dovepress.com/current-perspectives-on-chek2-mutations-in-breast-cancer-peer-reviewed-fulltext-article-BCTT

Category:  Breast cancer Show Health

Expert Talks the Who, What and When of Breast Cancer

(8 days ago) Breast cancer occurs earlier (with these mutations) than ovarian cancer. “Typically, there’s a 10-year window when breast cancers occur, as early as the 20s and 30s, whereas most ovarian cancers occur in the late 40s and beyond with BRCA1 and 2,” Ellisen said. “And that affects how we screen, and that affects how we manage these.”.

https://www.curetoday.com/view/expert-talks-the-who-what-and-when-of-breast-cancer-genetic-testing

Category:  Breast cancer,  Ovarian cancer Show Health

CHEK2 – Inherited Cancer Registry (ICARE)

(8 days ago) A study comparing women with two CHEK2 mutations to one CHEK2 mutation showed that those with two mutations were: -more likely to get breast cancer (80.6% versus 41.2%) -more likely to be diagnosed at or below age 50 (61.3% versus 23.9%) -more likely to have a second breast cancer diagnosis (22.6% versus 8.1%) These findings … Continue reading

https://inheritedcancer.net/tag/chek2/

Category:  Breast cancer Show Health

CHEK2 Gene Mutations - mySupport360

(5 days ago) CHEK2 Breast Cancer Case-Control Consortium. CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet. 2004 74:1175-82. PMID: 15122511. Kriege M, et al. Survival and contralateral breast cancer in CHEK2 1100delC breast cancer patients

https://mysupport360.com/education/associations-genes/chek2-gene-mutations/

Category:  Breast cancer Show Health

Clinician Management Resource for CHEK2 - Ambry Gen

(8 days ago) Clinician Management Resource for CHEK2 screening/surgical considerations age to start frequency Female Breast Cancer Breast Screening1 • Mammography with consideration of tomosynthesis • Consider breast MRI with contrast 40 years old, or 5-10 years before the earliest known breast cancer in the family Every 12 months

https://www.ambrygen.com/file/material/view/726/Clinician_ManagementResources_CHEK2_0418_final.pdf

Category:  Breast cancer Show Health

Is CHEK2 a moderate-risk breast cancer gene or the younger

(3 days ago) CHEK2 leads to cell cycle arrest in G1.5 There are multiple variants recognised within CHEK2 such as 1100delC, I157T, R117G, I160M, G167R and G167A.6 The 1100delC variant is the most studied and implicated with breast and other cancers.7 CHEK2 mutation and breast cancer risk are well studied. According to Cybulski et al, the OR was

https://casereports.bmj.com/content/bmjcr/13/9/e236435.full.pdf

Category:  Breast cancer Show Health

ORIGINAL ARTICLE Tumour characteristics and prognosis of

(6 days ago) survival, survival without contralateral breast cancer, distant metastasis-free survival, and overall survival for patients with breast cancer and a CHEK2*1100delC mutation as compared to patients without this mutation. The date of diagnosis of the first breast cancer was used as the moment of entry.

https://jmg.bmj.com/content/jmedgenet/41/10/731.full.pdf

Category:  Breast cancer Show Health

Genetic Disorder Reference Sheet: CHEK2 Gene Pathogenic

(Just Now) Cancer Risks. Germline CHEK2 pathogenic variants are associated with an increased risk for developing a variety of cancers, including female and male breast, colon, prostate, gastric, pancreatic, kidney, and thyroid cancers and, less commonly, brain tumors and sarcomas.. The CHEK2 gene is considered a moderate risk penetrance gene, meaning that a person who carries a …

https://voice.ons.org/news-and-views/genetic-disorder-reference-sheet-chek2-gene-pathogenic-variants

Category:  Thyroid cance Show Health

Survival and contralateral breast cancer in CHEK2 1100delC

(9 days ago) Survival and contralateral breast cancer in CHEK2 1100delC breast cancer patients: impact of adjuvant chemotherapy M Kriege*,1, A Hollestelle 1, A Jager , P E A Huijts2, E M Berns 3, A M Sieuwerts , M E Meijer-van Gelder , J M Colle´e4, P Devilee2, M J Hooning1, J W M Martens1 and C Seynaeve1 1Family Cancer Clinic, Department of Medical Oncology, Erasmus MC Cancer Institute, Groene …

https://repub.eur.nl/pub/58413/REPUB_58413_OA.pdf

Category:  Breast cancer Show Health

Cureus A Case of Male Breast Cancer Patient with CHEK2

(2 days ago) Male breast cancer (MBC) is a rare disease that accounts for less than one percent of all breast cancers. The association between BRCA1 and BRCA2 mutations and MBC has been well-established; recent data suggest that CHEK2 1100delC heterozygosity is also associated with an increased risk of MBC. Herein, we present the case of a 47-year-old male who was initially diagnosed …

https://www.cureus.com/articles/33599-a-case-of-male-breast-cancer-patient-with-chek21100delc-mutation

Category:  Breast cancer Show Health

Association between CHEK2 H371Y mutation and - BMC Cancer

(Just Now) The disruption of CHEK2 kinase activity may not only contribute to breast cancer development but also influence breast cancer survival or response to the adjuvant therapy. Two studies have suggested that the CHEK2 1100delC mutation is associated with poor recurrence-free survival in breast cancer [ 22 , 23 ], indicating that patients with CHEK2

https://bmccancer.biomedcentral.com/articles/10.1186/s12885-015-1203-3

Category:  Breast cancer Show Health

Oncogene PRR14 promotes breast cancer through activation

(9 days ago) As tumor suppressor CHEK2 is widely accepted as a driver gene during tumorigenesis in various types of cancer, mainly in breast cancer 32,33, PRR14’s inhibition of …

https://www.nature.com/articles/s41419-020-2640-8

Category:  Breast cancer Show Health

Women With Abnormal BRCA1 Gene Have Worse - Breast Cancer

(1 days ago) Women with an abnormal BRCA1 or BRCA2 gene have up to an 85% risk of developing breast cancer by age 70. Abnormal BRCA1 and BRCA2 genes are found in 5% to 10% of all breast cancer cases in the United States. A study found that women with an abnormal BRCA1 gene had a worse prognosis than women with an abnormal BRCA2 gene 5 years after diagnosis.

https://www.breastcancer.org/research-news/20070907

Category:  Breast cancer Show Health

Cells Free Full-Text CHEK2 Germline Variants in Cancer

(4 days ago) Although ER+ tumors tend to have a better prognosis in unselected breast cancer patients, ER+ tumors in CHEK2 mutation carriers were associated with worse breast cancer-specific survival [155,184]. A low or significantly reduced CHK2 expression was found in most breast tumors from mutation carriers [ 191 ].

https://www.mdpi.com/2073-4409/9/12/2675/htm

Category:  Breast cancer Show Health

BRCA Genetic Counseling Genetic Testing Breast Cancer

(8 days ago) Before my diagnosis, I had focused on my risk for ovarian cancer, since my mother had ovarian cancer. But breast cancer? I had breastfed all of my children and, in a way, felt I was ‘breast cancer-proof’. My diagnosis was a shock, and for me, finding the CHEK2 mutation gave me a reason that I’d developed breast cancer.

https://www.mygenecounsel.com/beyond-brca-chek2/

Category:  Breast cancer Show Health

How Travel Helped These Women Process a Breast Cancer

(9 days ago) Within a matter of days, the test came back positive for the CHEK2 gene mutation, a mutation that is associated with breast cancer but has not yet been heavily researched.

https://www.msn.com/en-us/lifestyle/weddings/how-travel-helped-these-women-process-a-breast-cancer-diagnosis/ar-AAP35m8

Category:  Breast cancer Show Health

Spectrum of Mutations in BRCA1, BRCA2, CHEK2, and TP53 in

(6 days ago) CHEK2.1100delC and CHEK2.S428F each increase risk of female breast cancer approximately 2-fold. 11-13 Some studies have found no association between CHEK2.I157T and risk of female breast cancer; other studies estimate the odds ratio for CHEK2.I157T to be between 1.4 and 3.6. 54-60 In the one family in our series in which it appeared, CHEK2

https://jamanetwork.com/journals/jama/fullarticle/202583

Category:  Breast cancer Show Health

Clinicopathologic Profile of Breast Cancer in Germline ATM

(3 days ago) The most common breast cancer (BC) susceptibility genes beyond BRCA1/2 are ATM and CHEK2. For the purpose of exploring the clinicopathologic characteristics of BC developed by ATM or CHEK2 mutation carriers, we reviewed the archive of our Family Cancer Clinic. Since 2018, 1185 multi-gene panel tests have been performed. Nineteen ATM and 17 CHEK2 mutation carriers affected …

https://www.mdpi.com/2073-4425/12/5/616/htm

Category:  Breast cancer Show Health

Merged Actionability Release - Clinical Genome Resources

(7 days ago) The presence of a CHEK2 pathogenic variant has been linked to reduced overall survival in individuals with breast cancer (HR: 6.9; 95% CI: 3.1 to 15.0).Most studies of breast cancer risk in CHEK2 heterozygotes have involved specific variants.

https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC127

Category:  Breast cancer Show Health

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