BRCA1/2 germline mutations are associated with a high risk of breast cancer, which may preclude mutation carriers from breast-conserving surgery (BCS).
RAD51C-null breast cancers possess similar genomic and clinical features to BRCA1-null cancers and may also be vulnerable to DNA double-strand break inducing chemotherapies and poly ADP-ribose polymerase inhibitors.
A larger cohort with complete information on the breast cancer pathologic characteristics and including other BRCA1 mutations would allow us to statistically compare the breast tumor profile associated to the c.3481_3491del11 to that related to other BRCA1 mutations.
Pathogenic mutations in breast cancer susceptibility genes BRCA1 and BRCA2 increase risks for breast, ovarian, fallopian tube, and peritoneal cancer in women; interventions reduce risk in mutation carriers.
There was also no significant association between BRCA1rs1799966 and BC risk (GG vs AA: OR = 0.70, 95% CI = 0.33-1.47; AG vs AA: OR = 0.68, 95% CI = 0.35-1.30; dominant model: OR = 0.76, 95% CI = 0.49-1.06; recessive model: OR = 0.82, 95% CI = 0.49-1.36).
The public announcement by the actor Angelina Jolie in 2013 that she had inherited and harboured a BRCA1 gene mutation, and was undergoing RRM and breast reconstruction to lower her intrinsic breast cancer risk, had a significant effect on public attitudes and perception.
At T1, we found an increase in 19,20-EDP levels in BC patients (<i>P</i> < 0.00001) and in controls (<i>P</i> < 0.001), whereas no differences in 19,20-EDPs were present between the two groups; when considering the type of BC presentation, patients with BRCA1/2 mutation showed lower 19,20-EDPs levels with respect to BC patients without the mutation (<i>P</i> = 0.03).
A total of 325 Japanese women with breast cancer (BC) (with or without invasive cancer) were referred for genetic counseling and underwent genetic testing for mutations in the BRCA1 and BRCA2 genes in Showa University Hospital between December 2011 and August 2016.
Development of Breast Cancer Choices: a decision support tool for young women with breast cancer deciding whether to have genetic testing for BRCA1/2 mutations.
The prevalence of <i>BRCA1/2</i> small-range mutations and large genomic rearrangements was 55.4% (36/65) for families with breast and ovarian cancer, 27.4% (67/244) for families with two or more cases of breast cancer, 18.5% (5/27) for families with male breast cancer, and 12.3% (25/203) for families with a single case of early-onset breast cancer.
BReast Cancer Associated proteins 1 and 2 (BRCA1, -2) and Partner and Localizer of BRCA2 (PALB2) protein are tumour suppressors linked to a spectrum of malignancies, including breast cancer and Fanconi anemia.
PARP inhibitors have been proven clinically efficacious in platinum-responsive ovarian cancer regardless of BRCA1/2 status and in breast cancers with germline BRCA1/2 mutation.
Our study demonstrates that ER-positivity worsens BC prognosis in BRCA1/BRCA2 mutation carriers, while prognosis for carriers with ER-negative tumors (including early-onset) is significantly better and comparable with that in ER-positive, older BC non-carriers.
Inherited mutations in the breast cancer susceptibility genes <i>BRCA1</i> and <i>BRCA2</i> (<i>BRCA1/2</i>) confer high risks of breast and ovarian cancer.
BRCA1 or BRCA2 mutations were found in 7.3% of the subjects, 6.3% had a mutation in other breast cancer genes (PALB2, CHEK2, ATM, and BARD1), and 1.6% had mutations in genes not associated with breast cancer.
<i>In vivo</i> therapeutic targeting of EF2K by CoFe-siRNA-nanoparticles leads to sustained <i>EF2K</i> gene knockdown and suppressed tumor growth in orthotopic xenograft models of BRCA1-mutated breast cancer.