Tag: ATM

ICARE Social Media Post October 2021

Pancreatic Cancer Risks: ATM

For more information, read the full article at: https://jamanetwork.com/journals/jamaoncology/article-abstract/2783767 Reference: Hsu, et al. JAMA Oncol. 2021 Sep 16:e213701. PMID: 34529012.

Permanent link to this article: https://inheritedcancer.net/post100121/

ICARE Social Media Post August 2021

Metastatic Breast Cancer Genes

For additional information, read the Journal of Clinical Oncology article at the link below ๐Ÿ‘‡ https://ascopubs.org/doi/10.1200/JCO.20.01200

Permanent link to this article: https://inheritedcancer.net/post82021/

ICARE Social Media Post August 2021

Breast Cancer Risk Among Breast Cancer Gene Carriers Varies by Polygenic Risk Score

For more information, read the ๐˜‘๐˜ฐ๐˜ถ๐˜ณ๐˜ฏ๐˜ข๐˜ญ ๐˜ฐ๐˜ง ๐˜Š๐˜ญ๐˜ช๐˜ฏ๐˜ช๐˜ค๐˜ข๐˜ญ ๐˜–๐˜ฏ๐˜ค๐˜ฐ๐˜ญ๐˜ฐ๐˜จ๐˜บ article at the link below:https://ascopubs.org/doi/figure/10.1200/JCO.20.01992

Permanent link to this article: https://inheritedcancer.net/post81321/

ICARE Social Media Post June 2021

A Population-Based Study of Genes Previously Implicated in Breast Cancer

For additional information, read the article at the following link: https://www.nejm.org/doi/10.1056/NEJMoa2005936

Permanent link to this article: https://inheritedcancer.net/post62521/

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: ใ€‹US-based study, visit: https://www.nejm.org/doi/full/10.1056/nejmoa2005936 ใ€‹International study, visit: https://www.nejm.org/doi/full/10.1056/nejmoa1913948 ใ€‹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 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 ๐˜‰๐˜™๐˜Š๐˜ˆ, ๐˜—๐˜ˆ๐˜“๐˜‰2, ๐˜Š๐˜๐˜Œ๐˜’2, and ๐˜ˆ๐˜›๐˜” Carriers” in ๐˜—๐˜ข๐˜ต๐˜ช๐˜ฆ๐˜ฏ๐˜ต ๐˜Œ๐˜ฅ๐˜ถ๐˜ค๐˜ข๐˜ต๐˜ช๐˜ฐ๐˜ฏ ๐˜ข๐˜ฏ๐˜ฅ ๐˜Š๐˜ฐ๐˜ถ๐˜ฏ๐˜ด๐˜ฆ๐˜ญ๐˜ช๐˜ฏ๐˜จ 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 ๐—ณ๐—ฟ๐—ฒ๐—ฒ to access and download ๐˜‚๐—ป๐˜๐—ถ๐—น ๐— ๐—ฎ๐—ฟ๐—ฐ๐—ต ๐Ÿฑ๐˜๐—ต 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 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

ATM: Cancer Risks and Risk Management

Gene: ๐˜ผ๐™๐™ˆ Cancer Risks and Management (per NCCN Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Version 1.2021) ๐—ช๐—ผ๐—บ๐—ฒ๐—ป: Breast cancer risk: Elevated at 30% – Recommend annual mammogram starting at age 40 and consider annual breast MRIs starting at age 40. Ovarian cancer risk: Possibly increased, not well established – Manage based on family history. …

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Permanent link to this article: https://inheritedcancer.net/post100220/

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

BRCA1/2 and Other Gene Carriers with Breast Cancer Donโ€™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 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 May 2020

Advances in Treatment for Metastatic Prostate Cancer: Olaparib

Findings from a recent study showed that olaparib (PARP inhibitor) significantly improved progression-free survival in patients with BRCA1, BRCA2, or ATM genetic alterations. Benefits were also more broadly seen among patients with homologous recombination repair gene defects. Link to full article: https://www.nejm.org/doi/full/10.1056/NEJMoa1911440 Check out the ASCO post article at: https://www.ascopost.com/news/may-2020/olaparib-for-patients-with-mcrpc-and-homologous-recombination-repair-gene-alterations/

Permanent link to this article: https://inheritedcancer.net/post50620/

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 Newsletter Winter 2020

Updated Pancreatic Cancer Screening Guidelines through CAPS Consortium

The International Cancer of the Pancreas Screening (CAPS) Consortium recently published updated recommendations about pancreatic cancer screening through MRI/magnetic retrograde cholangiopancreatography (MRCP) and/or an endoscopic ultrasound (EUS).1 Specifically, these guidelines now recommend that individuals with a CDKN2A or STK11 mutation begin screening at age 40. Screening for individuals with a BRCA1/2, ATM, PALB2, MLH1, or …

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Permanent link to this article: https://inheritedcancer.net/4nlw2020/

ICARE Social Media Post February 2020

Differences in Pancreatic Cancer Screening Recommendations from the National Comprehensive Cancer Network (NCCN) and the International Cancer of the Pancreas Screening (CAPS) Consortium

The National Comprehensive Cancer Network (NCCN) and the International Cancer of the Pancreas Screening (CAPS) Consortium recently updated pancreatic cancer screening recommendations. However, there are some differences between these recommendations. Specifically, screening with annual MRI/magnetic retrograde cholangiopancreatography (MRCP) and/or endoscopic ultrasound (EUS) is recommended as follows for NCCN versus CAPS: STK11 regardless of family history: …

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Permanent link to this article: https://inheritedcancer.net/post2620/

ICARE Social Media Post February 2020

Updated Pancreatic Cancer Screening Guidelines through the International Cancer of the Pancreas Screening (CAPS) Consortium

The International Cancer of the Pancreas Screening (CAPS) Consortium recently published updated pancreatic cancer screening recommendations. The recommendations include: Screening with MRI/magnetic retrograde cholangiopancreaography (MRCP) and/or endoscopic ultrasound (EUS) The screening was recommended for the following individuals: CDKN2A and STK11 mutation carriers starting at age 40 BRCA1/2, ATM, PALB2, MLH1, and MSH2 mutation carriers (if …

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Permanent link to this article: https://inheritedcancer.net/post2420/

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 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

The Role of Inherited Genes Increasingly Recognized in Pancreatic Cancer

A number of recent studies have suggested that a substantial number of individuals with pancreatic cancer have a mutation in an inherited cancer gene.  In a study of over 300 patients with pancreatic cancer (and with one or two family members with pancreatic cancer), 12% were found to have a mutation in 1 of 11 …

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Permanent link to this article: https://inheritedcancer.net/4nls2018/

ICARE Newsletter Summer 2018

Updates to NCCN Genetic/Familial High-Risk Assessment: Breast and Ovarian Guidelines

(Version 1.2019, posted July 11, 2018) Regardless of family history, some individuals with a hereditary breast- and ovarian-related cancer may benefit from genetic testing to determine eligibility for targeted treatment The multi-gene testing section table was updated with: A potential association of ATM with ovarian cancer risk Potential increased risk of BARD1 with breast cancer …

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Permanent link to this article: https://inheritedcancer.net/1nls2018/

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 Winter 2018

Advances in the Understanding of Inherited Prostate Cancer

Findings through a recent study reported that inherited cancer gene mutations were present in 8.2% of those with advanced or metastatic prostate cancer, which provides additional support to include this group of men in broader testing, particularly as targeted treatments based on inherited gene mutations becomes increasingly available.1 Another recent study suggested that those with …

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Permanent link to this article: https://inheritedcancer.net/10nlw2018/

ICARE Newsletter Winter 2018

Study Suggests Inherited Cancer Genes Are Important in Pancreatic Cancer

In a recent study which included over 800 patients with pancreatic ductal cancer, inherited cancer gene mutations were found in a much higher proportion than expected. Almost 5% of these patients had mutations identified in inherited cancer genes, the majority of which were in genes thought to be associated with pancreatic cancer (including BRCA2, ATM, …

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Permanent link to this article: https://inheritedcancer.net/9nlw2018/

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 (โ€œmulti-gene panel testingโ€) 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

New Study Suggesting BRCA1/2 and ATM Are Associated with Aggressive Prostate Cancer

Among 799 patients with prostate cancer, the rate of BRCA1/2 mutations was much higher among those who passed away of prostate cancer (6.07%) compared to those with low risk disease (1.44%).1 Among the group that died of prostate cancer, those with BRCA1/2 or ATM mutations passed away at an earlier age and had a shorter …

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Permanent link to this article: https://inheritedcancer.net/3nlw2017/

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

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 โ€˜highโ€™) 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 Winter 2016

More Information About the Inherited Component of Pancreatic Cancer

Although pancreatic cancer is one of the cancer types seen among individuals with mutations in inherited cancer genes (including BRCA2 and BRCA1), the proportion of individuals with pancreatic cancer who have an inherited cause has remained uncertain.  To further clarify the role of BRCA1 and BRCA2 (BRCA), over 300 patients with pancreatic cancer were tested …

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Permanent link to this article: https://inheritedcancer.net/7nlw2016/

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/