September is Ovarian Cancer Awareness Month, and we are proud to sponsor and participate in activities to honor and support this important health issue that impacts so many women and their families.
Hereditary Breast and Ovarian Cancer patient website
We are proud to announce a huge initiative for Ambry this year. We felt it was very important to create a unique, educational resource for patients and families impacted by hereditary breast cancer and/or hereditary ovarian cancer. Our new website, www.hereditarycancer.com, launched on September 8th. It offers helpful and supportive information for those who have been diagnosed with breast cancer or ovarian cancer, or those who could have an increased risk for hereditary cancer (but have not been diagnosed with it). It also has streamlined tools and features to help someone determine if he or she needs to learn more about hereditary cancer by getting a referral to see a medical professional, and/or tracking their family history of cancer.
Ovarian Cancer Public Awareness
We are dedicated to increasing awareness about rare inherited medical conditions, including those involving hereditary cancer. These statistics highlight some important (and lesser known) information about ovarian cancer. Additional information about ovarian cancer is also available on www.hereditarycancer.com. Our goals are to raise public awareness for how ovarian cancer can affect women and/or their families, and encourage them to be more proactive about their health.
Supporting the Teal It Up Foundation
Tee up the fight against ovarian cancer – Shoot for the Cure Tournament
Ambry is proud to be a silver sponsor at the Teal It Up Foundation 2015 Shoot for the Cure event on September 26th, at Ben Avery Clay Target Center in Phoenix, AZ. We spoke with Teal It Up Foundation Founder and President, Jan Coggins, about what Ambry’s sponsorship means to the Foundation, and how we are making strides in ovarian cancer research with the money raised from this and other Foundation events. Jan states, “A sponsorship like Ambry’s will allow the foundation to be more robust in giving to ovarian cancer research. Each year the foundation makes a contribution to Stand Up 2 Cancer (SU2C) specifically for ovarian cancer. We believe their research team has put together the best scientists from across the country to work on cutting edge advances in ovarian cancer. Teal it Up Foundation is very proud to partner with Ambry because of its commitment to educate and help fund any patient needing assistance with genetic testing.”
Ovarian Cancer Awareness Masquerade - Unmasking the Cancer That Hides
Ambry employees, Kimberly Standfest and Selvi Palaniappan, attended this event on September 10th, to support ovarian cancer awareness in their community. The evening’s proceeds benefited the Georgia Ovarian Cancer Alliance (GOCA) Education & Awareness, and Bag of Hope Programs. The event featured Jazz and New Orleans Style Casino with, of course, masks (although not required) and fun was had by all for a very good cause!
Recent Hereditary Ovarian Cancer Data
We at Ambry have partnered with clinicians nationwide and internationally to securely share our scientific data for over two decades. Here are some important scientific publications with our collaborators – all contributing to our collective understanding of ovarian cancer.
Quick take: This study sought to investigate the contribution of 19 genes identified in the literature as increasing the risk of hereditary breast and ovarian cancer (HBOC) in a BRCA1 and BRCA2 negative population of patients with a personal history of breast and/or ovarian cancer by means of a hereditary cancer panel. In this cohort of 911 subjects, panel testing identified 67 mutations. With 7.4% of subjects harboring a mutation on this multi-gene panel, the diagnostic yield was increased, compared to testing for BRCA1 and BRCA2 mutations alone. In the ovarian cancer probands, the most frequently mutated genes were BRIP1 (n = 8; 1.72%) and MSH6 (n = 6; 1.29%). In the breast cancer probands, mutations were most commonly observed in CHEK2 (n = 9; 2.54%), ATM (n = 3; 0.85%), and TP53 (n = 3; 0.85%). This study highlights information that can be captured with panel testing and provides support for incorporation of panel testing into clinical practice.
For a complete listing of our peer-reviewed publications organized by category, please click here.
Quick Take: This study assessed the clinical and molecular characteristics of individuals with mismatch repair (MMR) gene and EPCAM mutations on multi-gene panel testing, with a focus on features of hereditary breast and ovarian cancer (HBOC). One fifth of patients with MMR mutations met criteria for HBOC but not Lynch syndrome (LS), highlighting the importance of including LS as a differential diagnosis for families with breast and ovarian cancer. MSH6 was the most common gene mutation amongst MMR mutation-positive probands with a history of breast cancer (43%), ovarian cancer (63%), and/or meeting HBOC testing criteria (47%). Consideration should be given to updating LS testing criteria to include HBOC phenotypes, particularly a personal history of ovarian cancer in the absence of synchronous/metachronous LS-related malignancies. The difference in distribution of mutations in MSH6 amongst patients meeting criteria for LS and HBOC adds to the existing knowledge of potential genotype-phenotype associations in LS.
For a complete listing of our scientific posters organized by conference, please visit here.
Other notable ovarian cancer publications
Quick Take: This study aimed to estimate the contribution of deleterious mutations in the RAD51B, RAD51C, and RAD51D genes to invasive epithelial ovarian cancer (EOC) in the population and in a screening trial of individuals at high risk of ovarian cancer. Mutations in EOC cases were more frequent in RAD51C (14 occurrences, 0.41%) and RAD51D (12 occurrences, 0.35%) than in RAD51B (two occurrences, 0.06%). RAD51C mutations were associated with an odds ratio of 5.2 (95% CI, 1.1 to 24; P _ .035), and RAD51D mutations conferred an odds ratio of 12 (95% CI, 1.5 to 90; P _ .019). RAD51 mutation carriers were more likely than non-carriers to have a family history of ovarian cancer (P _ .001). These results confirm that RAD51C and RAD51D are moderate ovarian cancer susceptibility genes and suggest that they confer levels of risk of EOC that may warrant their use alongside BRCA1 and BRCA2 in routine clinical genetic testing.
Quick Take: Epithelial ovarian cancer (EOC) is the most lethal gynecological malignancy in the U.S. Next generation sequencing was used to identify germline mutations in four candidate susceptibility genes (BRIP1, BARD1, PALB2 and NBN) in 3,236 invasive EOC case patients and 3,431 control patients of European origin, and in 2,000 unaffected high-risk women from a clinical screening trial of ovarian cancer (UKFOCSS). An increased frequency of deleterious mutations in BRIP1 in case patients (0.9%) and UKFOCSS participants (0.6%) compared with control patients (0.09%) (P =1x10–4 and 8x10–4, respectively) was seen, but no differences for BARD1 (P=.39), NBN1 (P=.61), or PALB2 (P=.08). Relative risks associated with BRIP1 mutations were 11.22 for invasive EOC (95% confidence interval [CI] = 3.22 to 34.10, P = 1 x 10–4) and 14.09 for high-grade serous disease (95% CI=4.04 to 45.02, P=2x10–5). Segregation analysis in families estimated the average relative risks in BRIP1 mutation carriers compared with the general population to be 3.41 (95% CI=2.12 to 5.54, P=7×10–7). Deleterious germline mutations in BRIP1 are associated with a moderate increase in EOC risk, and have clinical implications for risk prediction and prevention approaches for ovarian cancer.