BRCA1/2 mutations and recently described constitutional FMR1 genotypes have, independently, been associated with prematurely diminished ovarian reserve. Whether they interrelate in distribution, and whether observed effects of BRCA1/2 and FMR1 on ovaries are independent of each other, is unknown. In a prospective comparative cohort study, we, therefore, investigated the distribution of constitu...

The oncogenic role and clinical relevance of BRCA mutations in NSCLC remain unclear. We aim to evaluate the characteristics outcomes patients with harboring treated at Hadassah Medical Center (HMC). retrospectively assessed all advanced who underwent next-generation sequencing (NGS) were found have pathogenic somatic (p-BRCA). compared wild-type (wt-BRCA) matched by age, stage, gender, smoking,...

BACKGROUND Breast cancer associated (BRCA) genes are critical for DNA repair. Mutations in BRCA1 and BRCA2 (BRCAm) result in loss of these repair mechanisms and potential carcinogenesis. Germline BRCAm are common in ovarian carcinomas, particularly in platinum-sensitive disease. The increased prevalence of BRCAm in platinum-sensitive disease is likely due to enhanced responsiveness to platinum ...

Individuals with an inherited BRCA1 or BRCA2mutation have an elevated risk of developing breast cancer. The resulting tumors typically lack homologous recombination repair as do a subset of sporadic tumors with acquired BRCA deficiency. Clinical responses to monotherapy with platinum drugs or poly PARP inhibitors (PARPi)havebeenshown forBRCA-associatedcancers.However, thereare limiteddataoncomb...

Although the majority of breast cancers are sporadic, it is estimated that between 5% and 10% of cases are hereditary and mostly associated with BRCA 1 and BRCA 2 mutations. Women with BRCA 1 or BRCA 2 mutation present up to 95% increased risk of breast cancer and are advised to take preventive measures. Surveillance, chemoprevention and prophylactic surgery (mastectomy and oophorectomy) are ri...

BRCA genes are important for the integrity and stability of genetic material and play key roles in repairing DNA breaks via high fidelity homologous recombination. BRCA mutations are known to predispose carriers to gynecological malignancies, accounting for a majority of hereditary OC cases. Known to be lethal, OC is difficult to detect and control. Testing for BRCA mutations is a key step in t...

In order to investigate the presence and function of BRCA mutations in Korean breast cancer patients, mutational analyses using denaturing HPLC (DHPLC) were performed for 1020 breast cancer patients and 167 normal females. We identified 14 deleterious mutations that included 10 frameshift mutations and 4 nonsense mutations. Among these 14 mutations, we found 3 novel BRCA1 and 3 novel BRCA2 muta...

The involvement of microRNA (miRNAs), a new class of small RNA molecules, in governing angiogenesis has been well described. Our aim was to investigate miRNA-mediated regulation of angiogenesis in a series of familial breast cancers stratified by BRCA1/2 mutational status in BRCA carriers and BRCA non-carriers (BRCAX). Affymetrix GeneChip miRNA Arrays were used to perform miRNA expression analy...

BRCA and poly-ADP ribose polymerase (PARP) regulate pathways of DNA repair. Due to the accumulation of mutations introduced by error-prone DNA repair, breast and ovarian cancers develop in the setting of BRCA deficiency. A series of recent clinical trials has tested the use of PARP inhibition as a therapeutic strategy to target BRCA-deficient tumors.

Lack of awareness, the stigma of carrying a genetic mutation, and economic factors are barriers to acceptance of BRCA genetic testing or appropriate risk management. We aimed to investigate the influence of Angelina Jolie's announcement of her medical experience and also health insurance reimbursement for BRCA gene testing on practice patterns for hereditary breast and ovarian cancer (HBOC). A ...