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. …
Tag: ATM
Permanent link to this article: https://inheritedcancer.net/2nlw2021/
ICARE Social Media Post January 2021
Sharing Genetic Test Results with Family Members of BRCA, PALB2, CHEK2, and ATM
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
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 …
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
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 …
Permanent link to this article: https://inheritedcancer.net/pub111020/
ICARE Social Media Post October 2020
Polygenic Risk Scores in Refining Breast Cancer Risks
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
ICARE Social Media Post October 2020
ATM: Cancer Risks and Risk Management
Gene: 𝘼𝙏𝙈 Cancer Risks and Management (per NCCN Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Version 1.2021) 𝗪𝗼𝗺𝗲𝗻: 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. …
Permanent link to this article: https://inheritedcancer.net/post100220/
ICARE Publication September 2020
Strategies to enhance identification of hereditary breast cancer gene carriers
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
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 …
Permanent link to this article: https://inheritedcancer.net/3nls2020/
ICARE Social Media Post July 2020
BRCA1/2 and Other Gene Carriers with Breast Cancer Don’t Always Receive Recommended Treatment
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 …
Permanent link to this article: https://inheritedcancer.net/post71020/
ICARE Social Media Post May 2020
Platinum Based Chemotherapy for Metastatic Pancreatic Cancer
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
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
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 …
Permanent link to this article: https://inheritedcancer.net/pub52220/
ICARE Social Media Post May 2020
Advances in Treatment for Metastatic Prostate Cancer: Olaparib
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
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 …
Permanent link to this article: https://inheritedcancer.net/post32020/
ICARE Newsletter Winter 2020
New Study Based on ICARE Participants with ATM & CHEK2 Mutations
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 …
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
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 …
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
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: …
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
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 …
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
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 …
Permanent link to this article: https://inheritedcancer.net/pub12220/
ICARE Newsletter Winter 2019
New Online Risk Calculator to More Accurately Predict Breast Cancer Risk
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 …
Permanent link to this article: https://inheritedcancer.net/11nlw2019/
ICARE Newsletter Summer 2018
The Role of Inherited Genes Increasingly Recognized in Pancreatic Cancer
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 …
Permanent link to this article: https://inheritedcancer.net/4nls2018/
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
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 …
Permanent link to this article: https://inheritedcancer.net/7nls2018/
ICARE Newsletter Winter 2018
Advances in the Understanding of Inherited Prostate Cancer
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 …
Permanent link to this article: https://inheritedcancer.net/10nlw2018/
ICARE Newsletter Winter 2018
Study Suggests Inherited Cancer Genes Are Important in Pancreatic Cancer
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, …
Permanent link to this article: https://inheritedcancer.net/9nlw2018/
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
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 …
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
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 …
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
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 …
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
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 …
Permanent link to this article: https://inheritedcancer.net/4nlw2016/
ICARE Newsletter Winter 2016
More Information About the Inherited Component of Pancreatic Cancer
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 …
Permanent link to this article: https://inheritedcancer.net/7nlw2016/
Permanent link to this article: https://inheritedcancer.net/1nls2015/
