The youngest mutation carrier with histologically confirmed fibrofolliculomas was 25 years old (BHD 23).
We describe for the first time a BRCA1 mutation carrier with a diagnosis of ACC of the breast.
Of all BSOs, one (0.6%) FIGO stage IIb ovarian cancer was diagnosed in a 60-year-old BRCA-2 mutation carrier with a history of breast cancer.
13 The risk of contralateral breast cancer in a female BRCA mutation carrier with a prior history of breast cancer is also increased.
We report a homozygous tau R406W mutation carrier with behavioral variant frontotemporal dementia who developed symptoms 20 years before mean family symptom onset.
More specifically, a pancreatic ACC was reported in a BRCA1 male mutation carrier with a family history positive for early-onset breast cancers.
We assessed accuracy of self-reported lifetime mammography history by BRCA1/2 mutation carriers with and without breast cancer.
Vosberg DE, Beaulé V, Torres-Berrío A, Cooke D, Chalupa A, Jaworska N, Cox SML, Larcher K, Zhang Y, Allard D, Durand F, Dagher A, Benkelfat C, Srour M, Tampieri D, La Piana R, Joober R, Lepore F, Rouleau G, Pascual-Leone A, Fox MD, Flores C, Leyton M, Théoret H. Neural function in DCC mutation carriers with and without mirror movements.
METHODS:A modified Markov decision analysis compared 3 strategies: (1) observe; (2) olaparib to progression; (3) BRCA1/2 mutation testing; treat mutation carriers with olaparib to progression.
Silhan, LL, Shah, PD, Chambers, DC, Snyder, LD, Riise, GC, Wagner, CL, Hellström-Lindberg, E, Orens, JB, Mewton, JF, Danoff, SK, Arcasoy, MO, and Armanios, M. "Lung transplantation in telomerase mutation carriers with pulmonary fibrosis". The European Respiratory Journal 44, no. 1 (July 2014): 178-187.
Overall, 40% of 134 TERT mutation carriers with a mean age of 51 carry a diagnosis of pulmonary fibrosis.
