Is breast cancer hereditary in Mauritania?
137 patients tested, chosen because a family form was suspected
BRCA carriers3827.7% of the 137 patients
BRCA1 c.815_824dup13Most common variant
BRCA1 c.4986+6T>C72nd most common variant
In short: More than one tested patient in four carried a mutation. 16 different variants, 3 of them never described before.
This is not the frequency among all patients: only suspected family forms were tested.
Source: BMC Cancer, 2022 · permanent link