A new study found that compared to those with BRCA2 mutations outside exon 11, those with exon 11 mutations had a lower breast cancer risk, higher risk for ER-negative breast cancer, and later age at diagnosis. These findings suggest that taking mutation type and location into account in cancer risk models may improve the ability …
Tag: Risk Assessment
Permanent link to this article: https://inheritedcancer.net/nlf20255/
ICARE Newsletter Fall 2025
National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment Guideline Updates
ICARE Newsletter Fall 2025
National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment Guideline Updates
Select updates outlined below. Check out the full guidelines by creating a FREE account at https://www.nccn.org/guidelines/category_2 Colorectal, Endometrial, & Gastric Cancer V1.2025 โ Released June 13th, 2025 Breast, Ovarian, Pancreatic, & Prostate Cancer V1.2026 โ Released July 10th, 2025
Permanent link to this article: https://inheritedcancer.net/nlf20251/
ICARE Newsletter Fall 2025
BRCA1/2 Carriers: High Risk of Breast Implant-Associated Lymphoma
ICARE Newsletter Fall 2025
BRCA1/2 Carriers: High Risk of Breast Implant-Associated Lymphoma
In a new study of female BRCA1/2 carriers who had breast cancer, there was a 16-fold higher risk of anaplastic large-cell lymphoma associated with breast implants. This occurred in BRCA1/2 carriers who received textured breast implants as part of breast reconstruction. This is important information for BRCA1/2 carriers to know about to guide breast reconstruction …
Permanent link to this article: https://inheritedcancer.net/nlf20254/
ICARE Newsletter Fall 2025
BRIP1: Third Most Common Gene for Inherited Ovarian Cancer
ICARE Newsletter Fall 2025
BRIP1: Third Most Common Gene for Inherited Ovarian Cancer
In a new study of unselected women with ovarian cancer, BRIP1 was the third most common gene for inherited ovarian cancer at a frequency of 1.1%, following BRCA1/2 which were found in 14.8%. Other inherited ovarian cancer genes included PALB2 (0.8%), RAD51C (0.4%), and RAD51D (0.4%). Beyond BRCA1/2 testing, additional testing through inherited cancer multi-gene …
Permanent link to this article: https://inheritedcancer.net/nlf20256/
ICARE Newsletter Fall 2025
BRCA1/2 Carriers with Breast Cancer: Removal of Ovaries and Fallopian Tubes Lowers Risk of Death
ICARE Newsletter Fall 2025
BRCA1/2 Carriers with Breast Cancer: Removal of Ovaries and Fallopian Tubes Lowers Risk of Death
A new study among BRCA1/2 carriers with breast cancer showed that the overall risk of death was 48% lower for those that removed their ovaries and fallopian tubes. Specifically, these women had lower risks of all-cause mortality, breast cancer-specific mortality, and second non-breast cancer development. Removing the ovaries leads to menopause which has other health …
Permanent link to this article: https://inheritedcancer.net/nlf20252/
ICARE Newsletter Fall 2025
Ovarian Cancer: 1 in 4 Cases Could Have Been Prevented!
ICARE Newsletter Fall 2025
Ovarian Cancer: 1 in 4 Cases Could Have Been Prevented!
A new study of 1877 ovarian cancer patients showed almost 25% of patients had ‘missed opportunities’ for salpingectomy (removal of fallopian tubes) when they had another surgery or procedure before their ovarian cancer diagnosis. Additionally, 6% of patients had a close relative with ovarian cancer, and almost 20% had a mutation in an ovarian cancer …
Permanent link to this article: https://inheritedcancer.net/nlf20253/
ICARE Newsletter Fall 2025
Lynch Syndrome: Showing the Importance of Family Testing
ICARE Newsletter Fall 2025
Lynch Syndrome: Showing the Importance of Family Testing
Cascade testing refers to testing family members for a gene mutation after another family member is found to have a mutation. Once family members get cascade testing, they can also benefit from screening, cancer prevention, and early detection strategies. A study conducted a microsimulation model to look at the cost effectiveness of cascade testing of …
Permanent link to this article: https://inheritedcancer.net/nlf20258/
ICARE Newsletter Fall 2025
Breast Cancer Treatment: BRCA1/2 Carriers
ICARE Newsletter Fall 2025
Breast Cancer Treatment: BRCA1/2 Carriers
A new randomized controlled trial among BRCA1/2 carriers comparing neoadjuvant chemotherapy with olaparib versus chemotherapy alone found: These findings suggest that adding olaparib may benefit survival for BRCA1/2 carriers, even if this is not apparent when looking at pathologic response. Abraham, et al. Nat Commun. 2025;16(1):4269. PMID: 40360463. Article available at: https://pubmed.ncbi.nlm.nih.gov/40360463/. Social media post …
Permanent link to this article: https://inheritedcancer.net/nlf20259/
ICARE Social Media Post July 2025
BRCA1/2 Carriers: High Risk of Breast Implant-Associated Lymphoma
ICARE Social Media Post July 2025
BRCA1/2 Carriers: High Risk of Breast Implant-Associated Lymphoma
A new study among female BRCA1 and BRCA2 (BRCA1/2) carriers after breast cancer found that they had a 16-fold higher risk of anaplastic large-cell lymphoma associated with breast implants. This occurred in BRCA1/2 carriers who received textured breast implants as part of breast reconstruction. This is important information for BRCA1/2 carriers to know about to …
Permanent link to this article: https://inheritedcancer.net/post072925/
ICARE Social Media Post June 2025 2025
PREMM5: Model to Estimate the Risk for Having Lynch Syndrome
ICARE Social Media Post June 2025 2025
PREMM5: Model to Estimate the Risk for Having Lynch Syndrome
PREMM5 is a model to estimate the risk for having Lynch Syndrome. PREMMplus is a model that estimates risks in 19-cancer risk genes, including Lynch Syndrome genes, BRCA, and other genes. A new study that compared PREMM5 and PREMMplus found that PREMMplus was just as good as PREMM5 in identifying patients with Lynch Syndrome. PREMMplus …
Permanent link to this article: https://inheritedcancer.net/post060325/
ICARE Newsletter Spring 2025
Refining Specific CHEK2 Mutation Risks
ICARE Newsletter Spring 2025
Refining Specific CHEK2 Mutation Risks
A recent editorial highlighted three common low-risk CHEK2 mutations (p.I157T, p.S428F, and p.T476M) that lead to a breast cancer risk of <1.4 fold (compared to โtypicalโ CHEK2 mutations where the risk is over 2-fold).1 This is important because the level of risk for these mutations does not warrant high-risk screening. Another study on these three …
Permanent link to this article: https://inheritedcancer.net/8nls2025/
ICARE Newsletter Spring 2025
Lynch Syndrome: Personalizing Risks
ICARE Newsletter Spring 2025
Lynch Syndrome: Personalizing Risks
MyLynch is a resource for Lynch syndrome patients that provides personal cancer risks, education on interventions, and adjusted risk estimates, depending on the intervention(s) the patient chooses to pursue. If you have Lynch syndrome, go to https://hereditarycancer.dfci.harvard.edu/mylynch/ to get your personalized risk estimate. Check out a recent presentation by Dr. Yurgelun, who helped develop MyLynch, …
Permanent link to this article: https://inheritedcancer.net/6nls2025/
ICARE Newsletter Spring 2025
Working Towards Defining a New Category of Reduced Penetrance BRCA1/2 Variants
ICARE Newsletter Spring 2025
Working Towards Defining a New Category of Reduced Penetrance BRCA1/2 Variants
We recently published a study that brings attention to “reduced penetrance” BRCA1 and BRCA2 (BRCA) mutations, which lead to LOWER breast cancer risks than โtypicalโ BRCA mutations.1 Specifically, these mutations lead to a lifetime breast cancer risk of 20-30%, similar to moderate penetrance breast cancer genes such as CHEK2 or ATM. This level of risk …
Permanent link to this article: https://inheritedcancer.net/5nls2025/
ICARE Newsletter Spring 2025
ACMG Guidelines Focused on Risks and Care Among ATM Carriers
ICARE Newsletter Spring 2025
ACMG Guidelines Focused on Risks and Care Among ATM Carriers
A panel of worldwide experts recently published recommendations for people with an ATM mutation, which raises the risk for breast, pancreatic, and prostate cancers. Among women Among men Among both women and men Check out an overview by Drs. Tischkowitz and Pal, who co-led this ATM effort, at: https://youtu.be/T76iGtn8_Do Pal T, et al. Genet Med. …
Permanent link to this article: https://inheritedcancer.net/4nls2025/
ICARE Featured Video March 2025
New Approaches to Hereditary Colorectal Cancer Risk Assessment
ICARE Featured Video March 2025
New Approaches to Hereditary Colorectal Cancer Risk Assessment
Below is a featured video from the March 2025 case conference, during which Matt Yurgelun, MD from Dana-Farber Cancer Institute discusses colorectal cancer risk assessment.
Permanent link to this article: https://inheritedcancer.net/video30625/
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2024-new-guidelines-released-through-asco-society-of-oncology-germline-testing-in-patients-with-breast-center/
ICARE Social Media Post August 2021
Genetic Risk Assessment for Hereditary Renal Cell Carcinoma
ICARE Social Media Post August 2021
Genetic Risk Assessment for Hereditary Renal Cell Carcinoma
To view the 30 consensus statements, read the full article at: https://acsjournals.onlinelibrary.wiley.com/doi/10.1002/cncr.33679
Permanent link to this article: https://inheritedcancer.net/post83121/
ICARE Social Media Post August 2021
Breast Cancer Risk Among Breast Cancer Gene Carriers Varies by Polygenic Risk Score
ICARE Social Media Post August 2021
Breast Cancer Risk Among Breast Cancer Gene Carriers Varies by Polygenic Risk Score
For more information, read the ๐๐ฐ๐ถ๐ณ๐ฏ๐ข๐ญ ๐ฐ๐ง ๐๐ญ๐ช๐ฏ๐ช๐ค๐ข๐ญ ๐๐ฏ๐ค๐ฐ๐ญ๐ฐ๐จ๐บ 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 April 2021
Komen Disparities Resource
ICARE Social Media Post April 2021
Komen Disparities Resource
Check out Susan G. Komen’s “๐๐ป๐ผ๐ ๐ฌ๐ผ๐๐ฟ ๐๐ถ๐๐๐ผ๐ฟ๐, ๐๐ป๐ผ๐ ๐ฌ๐ผ๐๐ฟ ๐ฅ๐ถ๐๐ธ” resource, which outlines disparities in breast cancer, how to understand your risk, and recommended screening and management practices. To learn more, please visit: ๐ https://www.komen.org/about-komen/our-impact/breast-cancer/health-equities-initiative/know-your-history/ ๐ https://blog.komen.org/news/black-history-month/
Permanent link to this article: https://inheritedcancer.net/post42021/
ICARE Social Media Post March 2021
Colorectal Cancer Risk Assessment Tool
ICARE Social Media Post March 2021
Colorectal Cancer Risk Assessment Tool
In honor of ๐๐ผ๐น๐ผ๐ฟ๐ฒ๐ฐ๐๐ฎ๐น ๐๐ฎ๐ป๐ฐ๐ฒ๐ฟ ๐๐๐ฎ๐ฟ๐ฒ๐ป๐ฒ๐๐ ๐ ๐ผ๐ป๐๐ต, we wanted to highlight the National Cancer Institute’s Colorectal Cancer Risk Assessment Tool (CCRAT) designed for healthcare providers to use with select patients to estimate the risk of colorectal cancer. You may access the tool at https://ccrisktool.cancer.gov
Permanent link to this article: https://inheritedcancer.net/post31221/
ICARE Social Media Post February 2021
Strategies to Enhance the Identification of Hereditary Breast Cancer Gene Carriers
ICARE Social Media Post February 2021
Strategies to Enhance the Identification of Hereditary Breast Cancer Gene Carriers
Check out a recent review article led by the ICARE team, published in ๐๐น๐ฑ๐ฆ๐ณ๐ต ๐๐ฆ๐ท๐ช๐ฆ๐ธ ๐ฐ๐ง ๐๐ฐ๐ญ๐ฆ๐ค๐ถ๐ญ๐ข๐ณ ๐๐ช๐ข๐จ๐ฏ๐ฐ๐ด๐ต๐ช๐ค๐ด, outlining strategies to improve the identification of inherited breast cancer gene carriers. Check out the full article at: https://www.tandfonline.com/doi/pdf/10.1080/14737159.2020.1816829?needAccess=true
Permanent link to this article: https://inheritedcancer.net/post20221/
ICARE Social Media Post December 2020
CDH1 Cancer Risks
ICARE Social Media Post December 2020
CDH1 Cancer Risks
When a ๐พ๐ฟ๐1 mutation is identified, several factors should be considered to figure out what the cancer risks might be and what medical management should be advised. Specifically, differences in cancer risks among those with a ๐พ๐ฟ๐1 mutation are not well understood. Identifying a ๐พ๐ฟ๐1 mutation in families with hereditary diffuse gastric cancer (HDGC) …
Permanent link to this article: https://inheritedcancer.net/post121520/
ICARE Social Media Post December 2020
Breast Cancer Polygenic Risk Score May Help Predict Risk of Contralateral Disease
ICARE Social Media Post December 2020
Breast Cancer Polygenic Risk Score May Help Predict Risk of Contralateral Disease
For further information, view the article available at: https://www.sciencedirect.com/…/pii/S0002929720303219
Permanent link to this article: https://inheritedcancer.net/post120120/
ICARE Social Media Post November 2020
Polygenic Risk Scores in Predicting Breast Cancer Risk
ICARE Social Media Post November 2020
Polygenic Risk Scores in Predicting Breast Cancer Risk
For further information, view the article available at: https://ascopubs.org/doi/full/10.1200/PO.19.00360
Permanent link to this article: https://inheritedcancer.net/post111320/
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 March 2020
Polygenic Risk Score and Colon Cancer Risk
ICARE Social Media Post March 2020
Polygenic Risk Score and Colon Cancer Risk
A Polygenic Risk Score (PRS) is calculated using genetic differences throughout someoneโs DNA, in combination with clinical and family history of cancer. This score, alongside environmental and lifestyle risk factors, may help to identify people who might benefit from screening at an earlier age. Important facts about PRS: – It does NOT look for changes …
Permanent link to this article: https://inheritedcancer.net/post31320/
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 2017
Breast and Ovarian Cancer Risks Among BRCA Carriers Followed Over Time
ICARE Newsletter Summer 2017
Breast and Ovarian Cancer Risks Among BRCA Carriers Followed Over Time
Findings from an international study of over 6000 women with a BRCA1 mutation and almost 4000 women with a BRCA2 mutation followed for an average of 5 years were recently published.1 Results showed the risk of breast cancer by age 80 was ~70% for both BRCA1 and BRCA2 carriers. Rates of breast cancer increased until …
Permanent link to this article: https://inheritedcancer.net/1nls2017/
ICARE Newsletter Winter 2016
What Is the Risk for Ovarian Cancer Among Women with Mutations in Newer Ovarian Cancer Genes?
ICARE Newsletter Winter 2016
What Is the Risk for Ovarian Cancer Among Women with Mutations in Newer Ovarian Cancer Genes?
The most common form of inherited ovarian cancer is due to mutations in the BRCA1 and BRCA2 genes, which are present in 10-15% of women with ovarian cancer and lead to an ovarian cancer risk of up to 44% and 27%, respectively. Another set of genes known to raise ovarian cancer risks are the mismatch …
Permanent link to this article: https://inheritedcancer.net/2nlw2016/
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