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Topic: Study: High Rate of Gene Mutations in People W/ MBC

Forum: Positive Genetic Test Results —

BRCA 1 & 2, ATM, BARD1, CDH1, CHEK2, MRE11A, NBN, p53, PALB2, PTEN, RAD50, RECQL, RINT1, and possibly MSH6 and PMS2 genes

Posted on: Sep 6, 2019 03:53PM

Moderators wrote:

Small Study Finds High Rate of Gene Mutations in People Diagnosed With Metastatic Breast Cancer
September 3, 2019

Of 100 people diagnosed with metastatic breast cancer, 14 had a genetic mutation linked to the disease and 21 had a variant of unknown significance, according to a small study. Read more...

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Sep 6, 2019 08:42PM SimoneRC wrote:

Thanks Moderators! Nice to see my MO's name as one of the authors on the study!


ATM Gene Mutation, Deletion. IDC w/Lobular Features and Focal Mucinous Features. Pre Pectoral Reconstruction. Hysterectomy Surgery 4/6/2018 Mastectomy: Left, Right; Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement Hormonal Therapy 5/6/2018 Arimidex (anastrozole) Surgery 7/3/2018 Reconstruction (left): Silicone implant; Reconstruction (right): Silicone implant Surgery 4/30/2019 Reconstruction (left): Silicone implant; Reconstruction (right): Silicone implant Surgery 4/30/2019 Prophylactic ovary removal Surgery 8/6/2019 Reconstruction (left): Fat grafting; Reconstruction (right): Fat grafting

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