Tag: CHEK2

ICARE Social Media Post April 2021

Family Communication of Genetic Test Results Among Women with Inherited Breast Cancer Genes

Check out a recent article led by the ICARE team, published in the Journal of Genetic Counseling, outlining family communication of genetic test results among female BRCA1/2, PALB2, CHEK2, and ATM carriers. Check out the full article at: https://onlinelibrary.wiley.com/doi/full/10.1002/jgc4.1356

Permanent link to this article: https://inheritedcancer.net/post40221/

ICARE Social Media Post March 2021

Three Articles: Breast Cancer Risks

For additional information about the: 》US-based study, visit: https://www.nejm.org/doi/full/10.1056/nejmoa2005936 》International study, visit: https://www.nejm.org/doi/full/10.1056/nejmoa1913948 》Accompanying editorial: https://www.nejm.org/doi/full/10.1056/NEJMe2035083

Permanent link to this article: https://inheritedcancer.net/post30921/

ICARE Newsletter Winter 2021

Inherited Breast Cancer Genes: Two New Important Articles Just Released

Results of a United States (U.S.)-based study1 and an international study2 were released in January in the New England Journal of Medicine and provide a much clearer picture about the role of inherited breast cancer genes in women without a family history of cancer, and how common these genes may be in the general population. …

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Permanent link to this article: https://inheritedcancer.net/2nlw2021/

ICARE Newsletter Winter 2021

CHEK2 is NOT a Li-Fraumeni Syndrome Gene

An old study back in 1999 suggested that CHEK2 may be a Li-Fraumeni Syndrome gene.1 However, a subsequent report in 2002 clearly refuted this original assertion, and based on additional data and analysis concluded that “… it is very unlikely that CHEK2 is an alternative Li-Fraumeni Syndrome susceptibility gene.”2 Another subsequent report in 2008 based …

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Permanent link to this article: https://inheritedcancer.net/4nlw2021/

ICARE Social Media Post February 2021

Sharing Genetic Test Results with Family Members of BRCA, PALB2, CHEK2, and ATM Carriers

Our team recently published “Sharing Genetic Test Results with Family Members of 𝘉𝘙𝘊𝘈, 𝘗𝘈𝘓𝘉2, 𝘊𝘏𝘌𝘒2, and 𝘈𝘛𝘔 Carriers” in 𝘗𝘢𝘵𝘪𝘦𝘯𝘵 𝘌𝘥𝘶𝘤𝘢𝘵𝘪𝘰𝘯 𝘢𝘯𝘥 𝘊𝘰𝘶𝘯𝘴𝘦𝘭𝘪𝘯𝘨 Special Issue on Genetics. View the article available at:https://www.sciencedirect.com/science/article/pii/S0738399120306832 Challenges and barriers to family sharing included concern for family members’ reactions, complexities of information, lack of closeness, perceived relevance, & emotional impact. …

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Permanent link to this article: https://inheritedcancer.net/post20821/

ICARE Social Media Post January 2021

Sharing Genetic Test Results with Family Members of BRCA, PALB2, CHEK2, and ATM

Check out a new article by the ICARE team, published in Patient Education and Counseling, evaluating the motivators and barriers to sharing personal genetic test results with family members. The article is 𝗳𝗿𝗲𝗲 to access and download 𝘂𝗻𝘁𝗶𝗹 𝗠𝗮𝗿𝗰𝗵 𝟱𝘁𝗵 at: https://www.sciencedirect.com/science/article/pii/S0738399120306832

Permanent link to this article: https://inheritedcancer.net/post11521/

ICARE Publication January 2021

Sharing genetic test results with family members of BRCA, PALB2, CHEK2, and ATM carriers

Abstract Objective: This study explored motivators and challenges/barriers to sharing personal genetic test results (GTR) with family members (FM). Methods: Semi-structured, in-depth interviews were conducted with 62 women who had a pathogenic or likely pathogenic (P/LP) variant in a BRCA, PALB2, CHEK2, or ATM gene. Selective qualitative data analysis focused on eliciting motivators and challenges/barriers …

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Permanent link to this article: https://inheritedcancer.net/pub10521/

ICARE Social Media Post December 2020

CHEK2 is NOT a Li-Fraumeni Syndrome Gene

For additional details, read the articles at the links below: 𝟭𝟵𝟵𝟵: https://pubmed.ncbi.nlm.nih.gov/10617473/ 𝟮𝟬𝟬𝟮: https://pubmed.ncbi.nlm.nih.gov/12442270/ 𝟮𝟬𝟬𝟴: https://pubmed.ncbi.nlm.nih.gov/18178638/

Permanent link to this article: https://inheritedcancer.net/post121820/

ICARE Featured Video November 2020

CHEK2 is NOT a Li-Fraumeni Syndrome Gene

Below you may watch a featured video from the November 2020 Genetics Case Conference, which outlined how CHEK2 is NOT a Li-Fraumeni Syndrome gene. For additional details, read the articles at the links below: 𝟭𝟵𝟵𝟵: https://pubmed.ncbi.nlm.nih.gov/10617473​ 𝟮𝟬𝟬𝟮: https://pubmed.ncbi.nlm.nih.gov/12442270​ 𝟮𝟬𝟬𝟴: https://pubmed.ncbi.nlm.nih.gov/18178638

Permanent link to this article: https://inheritedcancer.net/video111220/

ICARE Publication November 2020

Family communication of genetic test results among women with inherited breast cancer genes

Abstract Identification of inherited breast cancer may guide care. These benefits can be amplified through communication of genetic test results with at-risk family members and subsequent family testing (FT). Females with a pathogenic/likely pathogenic (P/LP) variant in BRCA1/2, PALB2, CHEK2, and/or ATM were surveyed about family communication (FC) of genetic test results and FT. Comparisons …

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Permanent link to this article: https://inheritedcancer.net/pub111020/

ICARE Social Media Post October 2020

Polygenic Risk Scores in Refining Breast Cancer Risks

For further information, view the article available at: https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2767768

Permanent link to this article: https://inheritedcancer.net/post102720/

ICARE Social Media Post October 2020

CHEK2: Cancer Risks and Risk Management

Gene: 𝘾𝙃𝙀𝙆2 Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Colorectal Version 1.2020 & Breast/Ovarian/Pancreatic Version 1.2021: 𝗪𝗼𝗺𝗲𝗻: Breast Cancer Risk: Elevated at 28-44% – Recommend annual mammogram starting at age 40 and consider annual breast MRIs with contrast starting at age 40. 𝗠𝗲𝗻 𝗮𝗻𝗱 𝗪𝗼𝗺𝗲𝗻: Colorectal Cancer Risk: Elevated …

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Permanent link to this article: https://inheritedcancer.net/post100920/

ICARE Featured Video September & October 2020

NCCN Genetic/Familial Breast, Ovarian, and Pancreatic Guidelines

Below you may watch a featured video from the September 2020 and October 2020 Genetics Case Conference, which outlined updates to the National Comprehensive Cancer Network (NCCN) guidelines. Check out the full guidelines by creating a FREE account at: https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf

Permanent link to this article: https://inheritedcancer.net/video100820/

ICARE Publication September 2020

Strategies to enhance identification of hereditary breast cancer gene carriers

No abstract available Reid S, et al. Strategies to enhance identification of hereditary breast cancer gene carriers. Expert Rev Mol Diagn. 2020 Sep; 20(9):861-865. Epub 2020 Sep 11. PMID: 32856489. 

Permanent link to this article: https://inheritedcancer.net/pub91120/

ICARE Newsletter Summer 2020

Guideline-Concordant Care Among Women with Inherited Cancer Gene Mutations

Testing for inherited cancer among breast cancer patients has tremendous potential to guide appropriate care following testing. Yet, a number of efforts suggest that women are not consistently receiving care according to current national guidelines based on their genetic test result. In fact, results from studies suggest many women for whom risk-reducing mastectomy would not …

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Permanent link to this article: https://inheritedcancer.net/3nls2020/

ICARE Social Media Post July 2020

Breast Cancer Risks May be Higher in Women with Two CHEK2 Mutations Versus One CHEK2 Mutation

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 …

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Permanent link to this article: https://inheritedcancer.net/post71720/

ICARE Social Media Post July 2020

BRCA1/2 and Other Gene Carriers with Breast Cancer Don’t Always Receive Recommended Treatment

BRCA1/2 and other gene mutation carriers with early stage breast cancer are not always receiving cancer treatment as recommended by national guidelines. Even though more and more people have been tested for hereditary cancer over the years, using this information accurately to guide treatment has not been as successful. These findings highlight the need for …

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Permanent link to this article: https://inheritedcancer.net/post71020/

ICARE Social Media Post June 2020

Community Spotlight: Christy Mattey

In every ICARE Newsletter we feature an ICARE participant as a community spotlight. Our latest community spotlight in our Winter 2017 ICARE Newsletter is Christy Mattey, who was found to have a CHEK2 mutation after a breast cancer diagnosis. Check out her story at: https://inheritedcancer.net/community-spotlight/

Permanent link to this article: https://inheritedcancer.net/post60920/

ICARE Social Media Post May 2020

Platinum Based Chemotherapy for Metastatic Pancreatic Cancer

A recent study found that patients with metastatic pancreatic cancer who had mutations in the DNA repair genes (either inherited or just in the tumor) had better clinical outcomes after platinum-based chemotherapy compared to patients without these mutations. Check out the link to full article: https://clincancerres.aacrjournals.org/content/early/2020/05/20/1078-0432.CCR-20-0418

Permanent link to this article: https://inheritedcancer.net/post52920/

ICARE Social Media Post May 2020

Cancer Risk Management Among Female BRCA1/2, PALB2, CHEK2, and ATM Carriers in ICARE

A new article was recently published based on data from BRCA1/2, PALB2, CHEK2, and ATM carriers in ICARE. Findings suggest potential overtreatment through risk-reducing surgery among women with pathogenic/likely pathogenic variants in breast cancer genes. This highlights the importance of promoting guideline-adherent, risk-appropriate care. Check out the full article at https://rdcu.be/b4mbg

Permanent link to this article: https://inheritedcancer.net/post52620/

ICARE Publication May 2020

Cancer risk management among female BRCA1/2, PALB2, CHEK2, and ATM carriers

Abstract Purpose: Identification of inherited breast cancer may guide cancer risk management. We sought to compare risk management practices across women with inherited breast cancer genes. Methods: Females with a pathogenic/likely pathogenic (P/LP) variant in BRCA1/2, PALB2, CHEK2, and/or ATM were surveyed about cancer risk management. Comparisons were made across genes. Results: The 235 participants with P/LP variants …

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Permanent link to this article: https://inheritedcancer.net/pub52220/

ICARE Social Media Post March 2020

Study Based on ICARE Participants with ATM and CHEK2 Mutations

Women with ATM and CHEK2 mutations have a lifetime breast cancer risk greater than 20%, which is the threshold at which screening through a breast MRI is recommended. A recently published study based on ICARE participants with ATM and CHEK2 mutations suggested that most female family members of ATM and CHEK2 mutation carriers do not …

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Permanent link to this article: https://inheritedcancer.net/post32020/

ICARE Newsletter Winter 2020

New Study Based on ICARE Participants with ATM & CHEK2 Mutations

We are excited to tell you about our recently published results based solely on data from ICARE participants with ATM and CHEK2 mutations. Our findings suggest most female family members of ATM and CHEK2 mutation carriers do not qualify for breast MRI screening based on family cancer history alone. This emphasizes the need to share …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-winter-2020new-study-based-on-icare-participants-with-atm-chek2-mutations/

ICARE Publication January 2020

Breast cancer screening implications of risk modeling among female relatives of ATM and CHEK2 carriers

Abstract Background: With the increasing use of multigene panel tests, pathogenic and likely pathogenic (P/LP) variants are identified more frequently in the moderate-penetrance breast cancer genes ATM and CHEK2. Lifetime breast cancer risk among women with P/LP variants in these genes generally exceeds 20%, meeting the threshold at which high-risk breast cancer screening through breast magnetic …

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Permanent link to this article: https://inheritedcancer.net/pub12220/

ICARE Newsletter Summer 2019

New Information About Cancer Risks for Inherited Cancer Genes: CHEK2

In a study of inherited mutations in the CHEK2 gene, findings suggest there were two specific mutations that could predispose men to testicular germ cell tumors (TGCT). Specifically, 205 men with these tumors were tested for 48 DNA repair genes, and findings were then tested in other patient populations. These findings suggest that CHEK2 mutations …

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Permanent link to this article: https://inheritedcancer.net/7nls2019/

ICARE Newsletter Winter 2019

New Online Risk Calculator to More Accurately Predict Breast Cancer Risk

Prediction of breast cancer risk is important to identify those at highest and lowest risks, to help guide screening. A previously developed risk algorithm called Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) was recently extended to include truncating mutations in the BRCA genes, PALB2, CHEK2, and ATM. This online risk …

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Permanent link to this article: https://inheritedcancer.net/11nlw2019/

ICARE Newsletter Summer 2018

New Data to Suggest Additional Genes Associated with Breast and Ovarian Cancer

A recent study reported on cancer risks among over 10,000 cancer patients across the United States who had genetic testing. Findings suggest breast cancer risks were associated with ATM, CHEK2, and PALB2, as expected; but an association was also found with MSH6 (in line with other recently published data, as outlined in another article in …

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Permanent link to this article: https://inheritedcancer.net/7nls2018/

ICARE Newsletter Summer 2017

Breast and Ovarian Cancer Associations for Genes Tested Through Multi-Gene Panels

As testing for multiple genes at the same time (“multi-gene panel testing”) has become increasingly available with tremendous advances in genetic testing technology, it has become critical to evaluate and refine cancer associations and levels of risk for many of these genes now tested. Through a commercial laboratory database of almost 100,000 results of multi-gene …

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Permanent link to this article: https://inheritedcancer.net/2nls2017/

ICARE Newsletter Winter 2017

Community Spotlight

On my 43rd birthday I was diagnosed with an advanced stage breast cancer. Although my BRCA1 and BRCA2 results were surprisingly negative, I was certain there must be a genetic component to my breast cancer since I was diagnosed at a fairly young age. I remained in contact with my geneticist, Dr. Georgia Wiesner, and …

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Permanent link to this article: https://inheritedcancer.net/spotlightnlw2017/

ICARE Newsletter Winter 2017

Characterizing Breast Cancers That Develop Among Women with a CHEK2 Mutation

With increasing use of multi-gene panel tests, one of the genes in which mutations are frequently detected among breast cancer patients and others is the CHEK2 gene. This gene has been shown to have a 2-3 fold excess risk for breast cancer. There are many CHEK2 mutations that have been identified that generally fall into …

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Permanent link to this article: https://inheritedcancer.net/8nlw2017/

ICARE Newsletter Winter 2017

NCCN Guidelines Version 1.2017: Genetic/Familial High-Risk Assessment: Breast and Ovarian

Additional guidance pertaining to cancer risk management was provided in the most recent version of the NCCN Guidelines for inherited breast and ovarian cancer. These guidelines now include an expanded table outlining cancer risks and management for each gene, taking into account the age at initiation of each risk management modality as well as footnotes …

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Permanent link to this article: https://inheritedcancer.net/1nlw2017/

ICARE Newsletter Summer 2016

CHEK2 *1100delC Mutation Carriers: Breast Cancer Risk by Age and Tumor Type and Other Associated Cancer Risks

The CHEK2 *1100delC mutation is the most common “truncating” mutation (causing a shortened protein) in the CHEK2 gene among Europeans, with lifetime breast cancer risk in the range of 20-30% among female carriers. Results of data pooled from over 30 studies which included 40,000 breast cancer cases and 40,000 controls, showed that estrogen receptor (ER) …

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Permanent link to this article: https://inheritedcancer.net/6nls2016/

ICARE Newsletter Summer 2016

Practice Guideline Updates for NCCN Genetic/Familial High-Risk Assessment

The National Comprehensive Cancer Network (NCCN) is a network of oncology healthcare providers who work together to develop best practice guidelines for the delivery of cancer care. Given the increasing use of testing for mutations in several inherited cancer genes at one time (called “multi-gene panel testing”), the Breast/Ovarian and Colorectal Panels sought to provide …

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Permanent link to this article: https://inheritedcancer.net/2nls2016/

ICARE Newsletter Summer 2016

An Approach to Making Risk Management Recommendations for Newer Inherited Cancer Genes

A recent article sought to develop an approach to cancer risk management among individuals with mutations in newer inherited cancer genes, many of which result in a moderate (rather than ‘high’) cancer risk. Overall, the investigators suggest a framework that takes the age-specific, lifetime, and absolute cancer risks into account for inherited cancer genes where …

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Permanent link to this article: https://inheritedcancer.net/3nls2016/

ICARE Newsletter Winter 2016

Potential Use of PARP-Inhibitors Among Men with Prostate Cancer Who Carry a Mutation in BRCA or Other DNA-Repair Gene

A recent study published in the New England Journal of Medicine suggests that PARP-Inhibitors may be of potential use in men who are no longer responding to standard treatments and carry either somatic (i.e., tumor) and/or germline (inherited) mutations in DNA-repair genes (i.e., BRCA1/2, ATM, Fanconi Anemia genes and CHEK2).1 Of 49 men with prostate …

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Permanent link to this article: https://inheritedcancer.net/4nlw2016/

ICARE Newsletter Summer 2015

2015 NCCN Clinical Practice Guideline Update

Breast and Ovarian Management Based on Genetic Test Resultsa   Recommend Breast MRIc (>20% lifetime risk of breast cancerd) Recommend Risk-reducing salpingo-oophorectomy Discuss Option of Risk-reducing mastectomy Intervention warranted based on gene and/or risk level ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, STK11, TP53 BRCA1, BRCA2, Lynch syndromee BRCA1, BRCA2, CDH1, PTEN, TP53 Insufficient evidence …

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Permanent link to this article: https://inheritedcancer.net/1nls2015/