Zahraa Al-Hilli presented our research showing excellent patient education and satisfaction using an AI chatbot for genetic counseling in women with breast cancer ASBrS #ASBRS2023 Cleveland Clinic Cleveland Clinic MD Anna Chichura, MD Vincent Wu Holly Pederson MD Charis Eng, MD, PhD

“The number of variants with conflicting interpretation (in Clinvar) is now greater than the number of VUS.”

There are 70 intermediate risk BRCA2 Variants (missense variants with an OR of 2.85 found adjacent to the DNA binding region of the gene where the pathogenic variants are found. These “hypomorphic variants” may have partial function and are responsive to PARPI.

Estimated lifetime risk for breast cancer is 22-25% and for ovarian cancer, 4.7% in these hypomorphs. Fergus Couch

In 12-18 months the term “pathogenic variant” will be divided into multiple categories

Are true negatives really true negatives with hypomorphs? How should one approach conversations around RRM and RRSO?

Continuous measurements of mammographic density (as compared to the 4 BIRADS classifications), will be incorporated into CanRisk; watch for prostate cancer risk substratification with BRCA1, BRCA2 and HOXB13 soon!

RRSO in patients with BRCA1 reduces overall mortality by 72% - Dr. Joanne Kotsopoulos

Update on the first thousand patients on TUBA-WISPII. * Six patients had tubal abnormalities at salpingectomy. * Of the 60 that have undergone subsequent oophorectomy, no abnormalities were found at final pathology

“Don’t try to start a multi-site clinical trial in a pandemic.” 😂😂😂

Current polygenic risk scores predict only ER+ disease. We’ve probably found about half of all breast cancer-related SNPs.

wsj.com/articles/breas…

Two new syndrome names: * PALB2-related cancer predisposition syndrome. * CDH1-related Diffuse Gastric and Lobular Breast Cancer Syndrome (DGLBCS); syndromic as it can include cleft lip/palate.

Registration for the Cleveland Clinic annual Breast Cancer Summit is now open! ccfcme.org/CLEBreastCA23

Menopause ladies in Lake Tahoe- planning for #NAMS2023 Annual Meeting! ⁦Visit Lake Tahoe⁩ ⁦⁦⁩ ⁦The Menopause Society⁩ ⁦Menopause Journal⁩ ⁦Risa Kagan MD FACOG⁩ ⁦steven goldstein⁩ ⁦Jewel Kling MD MPH⁩ ⁦Sheryl Kingsberg⁩ ⁦Marla ⚢⁩ ⁦Holly Pederson MD⁩

What Everyone Should Know About Breast… | Speaking of Women’s Health speakingofwomenshealth.com/podcasts/what-…

Not enough adults are understanding that they have to create moments of happiness in their lives. Find things to be excited about. Create plans to look forward to. Decorate the house during holidays. Make a playlist you only listen to on Tuesdays. Keep your favorite snacks