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BRCA1 and BRCA2 gene mutations account for most actionable genetic breast cancer predispositions and are increasingly used for personalised breast cancer management and PARPi therapy of BRCA-related cancer. Thus, we propose updated guidelines for BRCA testing.
5 Σεπ 2024 · In this review, we describe the implications of gBRCAm testing for potential surgical approaches and treatment in patients with breast cancer, summarize the various approaches to gBRCAm...
22 Μαρ 2022 · Introduction. Germline genetic testing for variants in BRCA1 and BRCA2 genes comprise the majority of all clinical genetic tests as mutations in these two tumor suppressor genes have significant clinical utility for cancer previvors, survivors, and their family members.
1 Αυγ 2024 · So you've tested positive for BRCA1, BRCA2, or PALB2 gene mutations. Now what? Learn how to prevent breast cancer, detect it early, and/or treat it properly.
20 Αυγ 2019 · As in 2013, the USPSTF recommends risk assessment for women with family histories of breast, ovarian, tubal, or peritoneal cancers using risk stratification tools and offering those with positive results genetic counseling and possible testing (Grade B recommendation).
A BRCA genetic test can yield 3 possible results: Positive (a pathogenic mutation is found), negative (no mutation detected or a variant of no clinical significance – a polymorphism) or a variant of uncertain significance (VUS).
Timely access to BRCA1/2 tumour testing is becoming increasingly important in the clinical setting to identify patients with cancer who may benefit from poly (ADP-ribose) polymerase (PARP) inhibitor (PARPi) treatment.
