NCCN released updated Genetic/Familial High-Risk Assessment: #Colorectal, #Endometrial, #Gastric #Cancer guidelines on June 13th, including updates to clinical diagnostic criteria for #PeutzJeghersSyndrome among many other important updates. Read more at www.nccn.org/professional...
Watch an excerpt from yesterday's #ICARE #Genetics Case Conference during which Elizabeth Swisher, MD from the University of Washington discusses Myelodysplastic Syndrome (#MDS) and Acute Myeloid #Leukemia (#AML) following #PARPinhibitor therapy ⤸
youtu.be/t4PthACSQ00
NCCN just released updated Genetic/Familial High-Risk Assessment: #Breast, #Ovarian, #Pancreatic, & #Prostate #Cancer guidelines today! These new guidelines include updates to #CHEK2, #PALB2, #TP53, & #PTEN content and much more! Check them out at: www.nccn.org/professional...
Watch an exciting presentation from the @NCCN 2025 Annual Conference to learn about genes related to #prostate, #endometrial, & #gastric #cancers as well as the expanded recommendations in the #NCCN Guidelines for Genetic/Familial High-Risk Assessment ⤵
education.nccn.org/node/97031
A trial among #BRCA carriers comparing neoadjuvant #chemo with #olaparib vs. chemo alone found no improvement in pathologic response (64.1% vs. 69.8%) yet significant improvement in overall survival at 3 yrs (100% vs. 88.2%). Read the full article at: www.nature.com/articles/s41...
July is #Sarcoma and #BoneCancer #Awareness Month! Inherited #genes that lead to higher risks of these tumors include: #TP53, #RB1, #NF1, #APC, #KIT & #PDGFR. To learn more, read the following article 👇
www.ncbi.nlm.nih.gov/pmc/articles...
A new study found that compared to those with #BRCA2 variants outside exon 11, those with exon 11 mutations had lower #breastcancer risk, higher risk for ER-negative disease, and later age at diagnosis.
Learn more at: pubmed.ncbi.nlm.nih.gov/40288678/
@myesmo.bsky.social
A new study showed that among men at highest risk of #prostatecancer based on #PRS, more were found to have clinically significant disease (i.e., Gleason 7 or higher) than would have been found with PSA or MRI.
🔗 Learn more at:
www.nejm.org/doi/full/10....
Watch yesterday's #ICARE #Genetics Case Conference during which Joanne Kotsopoulos, PhD from the Women's College Hospital Research Institute discusses hormonal risks in women with hereditary #breast and #ovarian #cancer syndrome (HBOC) ⤸
youtu.be/NhEbQhmu79E
A microsimulation model showed that #cascadetesting lowered #colorectalcancer cases by 61% and deaths from colorectal #cancer by 78.5%, showing how much testing can help family members of those with #Lynchsyndrome newly diagnosed with colorectal cancer ⤵
pubmed.ncbi.nlm.nih.gov/40010417/
A study showed that compared to non-carriers, #ATM, #CHEK2, & #PALB2 carriers showed similar mortality from breast cancer, pancreatic cancer, & colorectal cancer. These results may be reassuring for these carriers. Learn more at: pubmed.ncbi.nlm.nih.gov/40020204/
A study comparing #PREMM5 & #PREMMplus found that PREMMplus was just as good as PREMM5 in identifying patients with #LynchSyndrome. PREMMplus also identifies individuals at risk for other inherited #cancer risk #genes. Learn more at: pubmed.ncbi.nlm.nih.gov/39772830/
May is #SkinCancerAwarenessMonth! Pathogenic variants in #CDKN2A #BAP1 #POT1 & #CDK4 are associated with increased #melanoma risk. #GorlinSyndrome, caused by pathogenic variants in #PTCH1, is associated with increased #basalcellcarcinoma risk. Learn more👇
www.cancer.gov/types/skin/h...
A study among #FAP patients, most of whom had a colectomy to prevent #cancer, found that although risk-reducing #colectomy is now standard practice in FAP patients, colorectal cancer remains the most common cancer and cause of death. Learn more at: pubmed.ncbi.nlm.nih.gov/39932215/
A study suggests that #BRIP1 might be the 3rd most common gene for inherited #ovariancancer. #BRCA mutations were found in almost 15%, while the frequency of mutations in other HRR genes were:
• #BRIP1 1.1%
• #PALB2 0.8%
• #RAD51C 0.4%
• #RAD51D 0.4%
pubmed.ncbi.nlm.nih.gov/39096152/
A meta-analysis study looking at prior studies of #PARPinhibitors in those with metastatic castration-resistant #prostatecancer showed the greatest benefit in #BRCA carriers and no benefit in #ATM or #CHEK2 carriers. Learn more at ⤸
pubmed.ncbi.nlm.nih.gov/39848867/
@euplatinum.bsky.social
A new study based on work in mice showed that an EZH2 inhibitor (called GSK503) given over 9 weeks in mice lowered the number of #adenomas that formed. Thus, EZH2 might be able to modulate immune-related #genes. Learn more at: pubmed.ncbi.nlm.nih.gov/39946195/
In recognition of #NationalCancerResearchMonth, we would like to raise #awareness about the incredible impact inherited #cancer #research has on the treatment & management of those at risk for #inheritedcancer. To learn more about #ICARE or enroll online, visit inheritedcancer.net
Watch yesterday's #ICARE #Genetics Case Conference during which Dr. Antonis Antoniou from the University of Cambridge discusses updates to #CanRisk, including adaptations for ethnically diverse populations and extensions to predict #prostatecancer #risk ⤸
youtu.be/bnhtdoXEjiU
May is #SkinCancerAwarenessMonth! Pathogenic variants in #CDKN2A #BAP1 #POT1 & #CDK4 are associated with increased #melanoma risk. #GorlinSyndrome, caused by pathogenic variants in #PTCH1, is associated with increased #basalcellcarcinoma risk. Learn more👇
www.cancer.gov/types/skin/h...
It is #NationalMinorityCancerAwarenessMonth! This month we would like to highlight the importance of #diversity in #cancerresearch. Not including minority populations in cancer research can further widen disparities! Spread awareness by sharing this post with friends and family.
A new case series of 47 children with #LiFraumeniSyndrome diagnosed with a solid #cancer at or below age 16 found that the time to developing a new cancer and survival were MUCH shorter in those who received radiation. Learn more at: pubmed.ncbi.nlm.nih.gov/40059635/
In recognition of #NationalCancerControlMonth, we encourage you to speak with your healthcare provider to make sure you are up-to-date on your #cancer #screenings to #preventcancer or find it early.
Help spread awareness by sharing this post with friends and family!
A study found that cancer was commonly found in #MSH6 & #PMS2 carriers even under age 30. Recommendations suggest delaying colonoscopy until age 30 in these carriers, thus study authors suggest this may lead to missed opportunities for preventing cancer. Learn more: pubmed.ncbi.nlm.nih.gov/40013688/
Through #ICARE, we are conducting free #genomic testing on #breast #tumor samples to better understand inherited #breastcancers. Enroll in ICARE using the link below and we will assess your eligibility for this and other focused research efforts
redcap.link/ICAREconsent
A study suggests that #MSH6-associated #colorectalcancers have fewer insertion/deletion mutations & lower rates of microsatellite instability (MSI) compared to other #Lynch genes. This could lead to an altered immune response. Learn more at:
pubmed.ncbi.nlm.nih.gov/40118460/
Did you know ~80% of #genomics data comes from Europeans, yet they only make up ~16% of the world population? This #bias means important associations for other #ancestry groups may be missed.
Not including #diverse populations in genomics #research can further WIDEN #disparities!
Have you tested positive for an #inheritedcancer gene? You may be eligible to participate in a focused #research effort conducted through #ICARE that aims to improve #geneticservices & #care for those with inherited cancer. Learn more or enroll online at inheritedcancer.net
Do you have a history of #breastcancer and an #ATM mutation? Join #ICARE at inheritedcancer.net to contribute to #tumor #genomics studies to better understand breast cancer in ATM carriers. With your help, we hope one day our research may lead to new or refined #treatments!
Have you had #genetictesting for #inheritedcancer and want more information? We provide free #education about #inheritedcancerrisk through our Tool for Inherited Cancer Predisposition Counseling and Testing Study (TIPS).
Visit redcap.link/TIPS and fill out the survey!
