New Educational Website for Families
Our new Hereditary Breast and Ovarian Cancer educational website is available for patients and families: Find your answer at hereditarycancer.com.
We are proud to announce this huge Ambry initiative during this special month. We felt it was important to create a unique, trustworthy educational resource for patients and families impacted by hereditary breast cancer and/or hereditary ovarian cancer. We created our website collaboratively with genetic counselors, other medical experts, and advocacy groups. It offers:
- Easy-to-read facts about breast cancer, ovarian cancer, genetics, and more
- Special content for those who have been diagnosed with cancer and previvors (those at increased risk for hereditary cancer, but not diagnosed with it)
- Informative videos from leading medical experts to illustrate key points
- Hereditary Cancer Risk Indicator Tool – to assess risk in less than a minute and kick-start a conversation with a healthcare provider
- Family Health History Tool (powered by Progeny Genetics) – to complete a pedigree for a more productive discussion with a healthcare provider
- Support resources and organizations
Breast Cancer Public Awareness
We are dedicated to increasing awareness about several inherited medical conditions, including hereditary cancer. We are featuring important statistics about breast cancer in our new patient website and our social media outlets throughout October.
We aim to raise the public consciousness about how breast cancer can affect individuals and/or their families, and empower them to be more proactive about their health.
2nd Annual Battle for the Breasts
Ambry is once again the title sponsor of this Mauli Ola Foundation event, powered by Surfline. This online surf contest helps spread awareness about the importance of early detection and screening for breast cancer. 16 randomly selected cancer clinics/hospital foundations have been paired with the world's top women's professional surfers for a chance to win up to $50K worth of donated Ambry Genetics hereditary breast cancer genetic testing vouchers, provided by Mauli Ola Foundation. The total donated amount adds up to $125K. Voting kicks off Thursday, October 1, 2015 at www.surfline.com and runs for the entire month of October. At the end of the month, the top four foundation/surfer pairs will be selected. You can follow all the action on Facebook and on Instagram @BattlefortheBreasts. Don't forget to vote for your favorite pair!
Professional surfer Bethany Hamilton, 2014 Battle for the Breasts winner (paired with Breastlink), randomly selects the 16 cancer clinic/hospital foundation-surfer pairs for 2015.
Stand Up For The Cure
This event is a stand-up paddleboarding breast cancer awareness event occurring at several U.S. locations. Ambry is once again a national sponsor for this event.
The event initially began in Newport Beach, California and went national when we brought it to Miami, Florida. This year, we added Muskegon, Michigan to our list of locations. Several events are planned, including a "Sea of Pink" celebration parade for breast cancer survivors, Fun 5K Race, Kids Race, Team Relay Race, and Health Expo.
Susan G. Komen Foundation
Susan G. Komen does an annual Race for the Cure throughout the U.S. Ambry regular sponsors, supports, and participates in these events. On September 27, 2015, 50 Ambry members participated in the 2015 Komen Orange County Race for the Cure.
Regular Collaborations and Secure Data Sharing with the Medical and Scientific Communities
Ambry firmly believes in offering continuing education and securely sharing data, and we are involved with many webinars and collaborative publications that focus on hereditary breast cancer.
- Webinar: A New Wave for Hereditary Breast and Ovarian Cancer
Speakers: Michelle Jackson, MS, CGC and Jacqueline Talpash, BA
Quick Take: An educational review of recent published literature, as well as pertinent internal Ambry data, depicting the changing landscape of hereditary breast and ovarian cancer.
- Peer-reviewed publication: Multigene panel testing detects equal rates of pathogenic BRCA1/2 mutations and has a higher diagnostic yield compared to limited BRCA1/2 analysis alone in patients at risk for hereditary breast cancer. (External collaboration with Breastlink)
Kapoor NS, Curcio LD, Blakemore CA, Bremner AK, McFarland RE, West JG, Banks KC. Ann Surg Oncol. 2015.
Quick Take: By comparing two groups having genetic testing (limited BRCA1/2 analysis or multi-gene panels), this study determined that panels find pathogenic BRCA1/2 mutations at equivalent rates as limited testing, but increase the diagnostic yield. Pathogenic BRCA1/2 mutation and BRCA1/2 VUS rates were found at equivalent rates between limited and panel groups. Of those having panel testing, however, an additional 3.9% had non-BRCA pathogenic mutations (most commonly in PALB2, CHEK2, and ATM), including in some well-described genes. The VUS rate for the panel group was increased at 13.4%, mainly as a result of non-BRCA genes. The study concludes that patients at risk for hereditary breast cancer can safely benefit from up-front, more efficient, multi-gene panel testing.
- Scientific poster: The genetic variation observed in BRCA1/2+ families.
Brandt R, DelGiacco EJ, Nixon C, Chao E, Dolinsky J, Speare V, Mushlin J, Carp NZ, McHugh TW. Poster presented at American Society of Clinical Oncology annual meeting, 2015, Chicago, IL. External collaboration with Lankenau Institute for Medical Research, Lankenau Medical Center, University of California-Irvine, Main Line Surgeons Ltd.
Quick Take: Commercialization combined with updates in professional guidelines have led to increased utilization of multi-gene panels as a first-tier test for HBOC. However, the possible utility of multi-gene tests in families with known BRCA1/2 mutations has not previously been investigated. Consented individuals were offered a multigene panel analyzing 23 genes associated with breast, ovarian and other cancers. A second pathogenic mutation was identified in 5 of 15 (33%) families in the following genes: MUTYH (3), RAD51D, and ATM. This study highlights the need to uncover the prevalence of digenic HBOC mutations in large cohorts of BRCA1/2 positive families with complex histories and the impact of multiple mutations on cancer risk and medical management.
For a complete listing of our peer-reviewed publications organized by category, please click here. For a complete listing of our scientific posters organized by conference, please visit here.
Notable Publications in the Field
- Gene-panel sequencing and the prediction of breast cancer risk
Easton DF, Pharoah PD, Antoniou AC, Tischkowitz M, Tavtigian SV, Nathanson KL, Devilee P, Meindl A, Couch FJ, Southey M, Goldgar DE, Evans DG, Chenevix-Trench G, Rahman N, Robson M, Domchek SM, Foulkes WD. N Eng J Med. 2015.
Quick Take: Advances in sequencing technology have made multi-gene testing a practical option when looking for genetic variants that may be associated with a risk of breast cancer. This paper reviews several genes for which some evidence of an association with breast cancer has been reported. Variants in BRCA1, BRCA2, PALB2, PTEN, TP53, CHEK2, ATM, NF1, STK11, CDH1, and NBN were all found to confer a high or moderate risk of breast cancer. Other breast cancer susceptibility genes (and perhaps rarer variants in non-coding sequences) will probably be identified and may be added to genetic testing panels. Panel testing can make a useful contribution to prediction of a woman’s risk of breast cancer, but end users need to be aware of the limitations of these panels.
- Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.
Ellingson MS, Hart SN, Kalari KR, Suman V, Schahl KA, Dockter TJ, Felten SJ, Sinnwell JP, Thompson KJ, Tang X, Vedell PT, Barman P, Sicotte H, Eckel-Passow JE, Northfelt DW, Gray RJ, McLaughlin SA, Moreno-Aspitia A, Ingle JN, Moyer AM, Visscher DW, Jones K, Conners A, McDonough M, Wieben ED, Wang L, Weinshilboum R, Boughey JC, Goetz MP. Breast Cancer Res Treat. 2015.
Quick Take: Exome sequencing was performed on blood samples from women with invasive breast cancer referred for neoadjuvant chemotherapy. Germline variants within 142 hereditary cancer susceptibility genes were filtered and reviewed for pathogenicity. Twenty-eight deleterious variants were identified in 26/124 (21.0 %) patients in the following genes: ATM, BLM, BRCA1, BRCA2, CHEK2, FANCA, FANCI, FANCL, FANCM, FH, MLH3, MUTYH, PALB2, and WRN. Thirteen (10.5 %) had actionable variants, including four that were returned to patients and led to changes in medical management. Deleterious variants in cancer susceptibility genes are highly prevalent in patients with invasive breast cancer referred for neoadjuvant chemotherapy having exome sequencing, and detection of these variants impacts medical management.
Click here to see Ambry's support for Breast Cancer Awareness Month in 2014!