Sheeza Basharat
Sheeza Basharatalmost 2 years ago
BRCA1 and BRCA2 Linked to Seven Cancers⁠

BRCA1 and BRCA2 Linked to Seven Cancers⁠ ⁠

A large case-control study finds the range of cancer types associated with pathogenic variants in BRCA1 and BRCA2 is broader than previously determined from prior analyses showing associations with breast, ovarian, prostate, and pancreatic cancers. ⁠ ⁠ The finding, published in JAMA Oncology suggests a possible broader clinical relevance for BRCA1 and BRCA2 genetic testing. Tap link in bio for full report. ⁠ ⁠ Pathogenic variants in BRCA1 were also found to be associated with biliary tract cancer, in BRCA2 with esophageal cancer, and in BRCA1/2 with gastric cancer.⁠ ⁠ Male patients with breast cancer had a very high carrier frequency of pathogenic variants in BRCA2 (18.9%), but not BRCA1 (1.89%). ⁠ ⁠ Patients with ovarian cancer showed the next highest proportion (BRCA1, 4.86%; BRCA2, 3.42%). ⁠ ⁠ Frequency exceeding 1% was seen for several other cancer types (two cancer types for BRCA1, four cancer types for BRCA2). ⁠ ⁠ More than one cancer types was identified in 4,128 patients (6.3%). Carrier frequency of pathogenic variants in BRCA1 was 0.44% with one cancer type, 0.85% with two cancer types, and 0.69% with three cancer types. It was 0.97%, 1.40%, and 1.74%, respectively, in BRCA2.⁠ ⁠ "The results of this large-scale registry-based case-control study suggest that pathogenic variants in BRCA1 and BRCA2 were associated with the risk of seven cancer types. These results indicate broader clinical relevance of BRCA1 and BRCA2 genetic testing," the authors wrote.⁠ By: ⁠ ⁠

Other commentsSign in to post comments. You don't have an account? Sign up now!

Recent MCQs

Show more MCQs

Recent flashcard sets

Show more flashcards