A new study among patients with renal cell carcinoma reported a higher chance of finding a mutation in an inherited cancer-related gene in those with: Read the full article to learn more at:https://pubmed.ncbi.nlm.nih.gov/38127826/ Reference: Nguyen, et al. JCO Precis Oncol. 2023;7: e2300168. PMID: 38127826.
Permanent link to this article: https://inheritedcancer.net/post111424/
Check out our recently published study that brings attention to “reduced penetrance” BRCA1 and BRCA2 (BRCA) pathogenic variants, which impart LOWER breast cancer risks than ‘typical’ BRCA mutations. Specifically, lifetime breast cancer risks for these reduced penetrance BRCA variants are 20-30% which is similar to that seen in moderate penetrance breast cancer genes (e.g., CHEK2 …
Permanent link to this article: https://inheritedcancer.net/post111124/
The National Comprehensive Cancer Network (NCCN) released updated Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer guidelines on September 11th, 2024. Some updates include revisions to ovarian cancer risks and management including ⤸ To read more, you can 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/post101224/
By Marleah Dean Kruzel, PhD, BRCA2 Previvor When I was eight years old, my mother found a lump in her breast – barely noticeable. For a few years, I watched her undergo chemotherapy, radiation, and a prophylactic mastectomy and reconstruction. Since then, my maternal aunt and grandmother also fought breast cancer, and we learned my …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2024-community-spotlight-the-patient-and-the-researcher-shares-her-uncertain-future-and-lessons-shes-learned/
A new study found that risks may be higher for multiple types of cancer, including breast cancer, in both females and males who have two CHEK2 mutations: Additionally, findings showed that the type of mutation may be important to guide level of risk (e.g., truncating 1100delC homozygotes being at a higher risk than compound heterozygotes …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2024-risks-of-cancer-in-individuals-with-two-chek2-mutations-called-bi-allelic-mutations/
Below is a featured video from the May 2024 case conference, during which Helen Hanson, MD and Ruth Casey, MD present on SDHA. Please visit our YouTube channel to watch the full May conference, including valuable discussion from genetics professionals!
Permanent link to this article: https://inheritedcancer.net/video50924/
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/
Through consensus, management recommendations were developed in the UK for females with pathogenic variants in the following inherited ovarian cancer genes: Learn more at the link in bio! Reference: Hanson H, et al. J Med Genet. 2023;60(5):417-429. PMID: 36411032.
Permanent link to this article: https://inheritedcancer.net/post81823/
In a multicenter study evaluating reclassifications of variant of uncertain significance (VUS) results in breast, ovarian, and colorectal cancer susceptibility genes, it was discovered that of 3261 VUS results, 8.1% were reclassified. Of all the reclassified VUS results, 11.3% resulted in clinically actionable findings, and 4.6% led to changes in clinical management. The reclassification rates …
Permanent link to this article: https://inheritedcancer.net/post60523/
Why have genetic testing? Genetic testing for inherited cancer can help guide care, including:• Cancer treatment plans, such as chemotherapy, drugs, surgery, and radiation• Cancer screening and prevention Sharing genetic test results can also help family members understand their cancer risks.
Permanent link to this article: https://inheritedcancer.net/post22423/
For more information, view the article at: https://pubmed.ncbi.nlm.nih.gov/33609447/
Permanent link to this article: https://inheritedcancer.net/post62221/
For additional information, view the BMJ article available at: 👉 https://www.bmj.com/content/372/bmj.n214
Permanent link to this article: https://inheritedcancer.net/post50321/
In every ICARE newsletter we give our participants the opportunity to have a question addressed by an expert in the field. In the latest edition, Dr. Rebecca Smith explains how a genetic change (or mutation) is classified as pathogenic or benign. Check out Dr. Smith’s full response in our Winter 2021 newsletter at: https://inheritedcancer.net/newsletters/
Permanent link to this article: https://inheritedcancer.net/post40921/
Asian, Hispanic, and Black women with breast cancer had higher rates of variants of uncertain significance (VUS) on genetic test results for hereditary cancer genes compared to White women with breast cancer according to a recent study. Check out the full article at https://link.springer.com/article/10.1007%2Fs13187-019-01646-8
Permanent link to this article: https://inheritedcancer.net/post62620/
Below you may watch a featured video from the May 2020 Genetics Case Conference, which focused on deciphering variant reports and classification with guest expert Dr. Rebecca Smith from Vanderbilt University Medical Center.
Permanent link to this article: https://inheritedcancer.net/video51420/
There are different types of genetic/DNA tests offered to patients with cancer: 1) Tumor tests, mainly done to guide cancer treatment. 2) Blood or saliva tests (on normal DNA that individual was born with) to identify inherited cancer predisposition, which may also guide cancer treatment in some instances. Genetic testing of the tumor detects mutations …
Permanent link to this article: https://inheritedcancer.net/post22620/
With the tremendous advances in gene-based care among those with inherited cancer risk, we are trying to develop tools and strategies to make it easier for more people to benefit from genetic education and testing. We are proud to introduce you to GeneSHARE, a free online toolkit for YOU, to help share positive test results …
Permanent link to this article: https://inheritedcancer.net/post91319/
The following question was addressed by Gillian Hooker, PhD, ScM, LCGC, who is the president-elect for the National Society of Genetic Counselors, Adjunct Associate Professor in the Division of Genetic Medicine at the Vanderbilt University Medical Center, and the Vice President of Clinical Development for Concert Genetics in Nashville, TN. Q. Why was the BRCA1/2 …
Permanent link to this article: https://inheritedcancer.net/10nls2019/
The following question was addressed by Georgia Wiesner, MD, MS, a nationally renowned clinical cancer geneticist, who is an Ingram Professor of Cancer Research, Professor of Medicine in the Division of Genetic Medicine, and the Director of the Clinical and Translational Hereditary Cancer Program for the Vanderbilt-Ingram Cancer Center in Nashville, Tennessee. Q. What are …
Permanent link to this article: https://inheritedcancer.net/14nlw2019/
Results of germline genetic testing generally yield three types of test results: Deleterious (positive), Negative (no mutation detected), and Variant of Uncertain Significance (VUS). As more genes are tested, the chance for a positive result goes up, as does the chance of receiving a VUS result.1 VUS results tell us that it remains uncertain whether …
Permanent link to this article: https://inheritedcancer.net/15nlw2019/
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/
A recent study compared psychosocial adjustment and risk perception among 11 to 19 year old daughters of women with breast cancer, comparing those with a BRCA mutation versus those without.1 The overall findings from the study were reassuring, suggesting that adolescent girls from BRCA-positive families had higher self-esteem and similar psychosocial adjustment compared to their …
Permanent link to this article: https://inheritedcancer.net/5nlw2017/
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) …
Permanent link to this article: https://inheritedcancer.net/6nls2016/
Once an individual has had genetic testing for inherited cancer predisposition this information could help their close family members. For example, when a BRCA mutation or a mutation in another inherited cancer gene is found, it is important for close family members (with or without a diagnosis of cancer) to know so they too can …
Permanent link to this article: https://inheritedcancer.net/1nlw2016/
A study of almost 20,000 BRCA1 carriers and 12,000 BRCA2 carriers demonstrated differences in breast and ovarian cancer risks depending on the location and type of mutation. Although all regions are associated with increased risk for breast and ovarian cancers among BRCA1/2 carriers, there were specific regions that were associated with even higher cancer risks. …
Permanent link to this article: https://inheritedcancer.net/4nls2015/
While there are specific recommendations against BRCA testing for minors,1 guidelines are less clear about whether parents should share their own test results with their children. Because there are no recommended surveillance or risk reduction options prior to age 25 for known BRCA mutation carriers, there has been debate about balancing the benefits of sharing …
Permanent link to this article: https://inheritedcancer.net/2nls2013/
The following question was addressed by Dr. Lora Thompson, a Clinical Psychologist at the Moffitt Cancer Center: Q. How do I talk to family members about my genetic test results? A. The ability to share risk information with family members is a common reason why many individuals undergo genetic testing. Family members may feel appreciative …
Permanent link to this article: https://inheritedcancer.net/4nlw2013/
Genetic testing for inherited cancer predisposition is typically performed by testing for one condition at a time. However, with the tremendous advances in genetic testing technologies over the last few years, the cost of testing has plummeted. To put this into perspective, the first human genome cost 2-3 billion dollars to sequence and took over …
Permanent link to this article: https://inheritedcancer.net/1nls2012/
We are fortunate to have Dr. Alvaro Monteiro, who is a molecular geneticist and expert on the BRCA1 and BRCA2 genes, as a member of our team. For our first ICARE newsletter, Dr. Monteiro teaches us about Variants of Uncertain Significance. Q. What is a Variant of Uncertain Significance (VUS) test result? How do researchers …
Permanent link to this article: https://inheritedcancer.net/1nls2011/
