About 90% of all breast cancers can be considered as sporadic, without inherited gene alteration. The rest of breast cancers (about 5 to 10%) are considered hereditary, most commonly caused by alterations of BRCA1/2 tumor suppressor genes. Lifetime risks for breast and ovarian cancers are increased among BRCA1/2 mutation carriers – 4 to 8 and 10 to 20 fold higher respectively. Due to the small ...

We describe the case of a woman carrying a germline pathogenic BRCA1 mutation diagnosed with a breast cancer overexpressing HER2. Clinical presentation of the tumor, HER2-positivity, genomic profile and loss of the mutated BRCA1 allele in tumor evidence that BRCA1 is not inactivated in this breast cancer. It represents the first biological demonstration for the existence of a sporadic HER2-posi...

Inhibitors of the poly(adenosine triphosphate-ribose) polymerase (PARP)-1 enzyme induce synthetic lethality in cancers with ineffective DNA (DNA) repair or homologous repair deficiency, and have shown promising clinical activity in cancers deficient in DNA repair due to germ-line mutation in BRCA1 and BRCA2. The majority of breast cancers arising in carriers of BRCA1 germ-line mutations, as wel...

Women with Family History (FH) of Breast Cancer (BRCA) in first-degree relative have a relative risk >4 due to inherited genetic mutation genes. This study therefore assessed knowledge and practices of BRCA prevention among women with FH of BRCA in the study area. This is a cross-sectional study. Snowball sampling technique was used to select 189 women with FH of BRCA. A semi-structured questio...

about the genetic information is crucial, as is ensuring that only the right patients are tested. “Just because we have this tool doesn’t mean that everyone with breast cancer has a genetic mutation and needs testing. We need to use good judgment and rely on physicians’ and counselors’ inputs to see who should be tested,” said Mamounas. In response to the recent flurry of news on the topic, the...

Recent research suggests a role for BRCA1/2 or ATM gene mutations in metastatic pancreatic cancer (mPC) as predictive marker of clinical benefit from platinum-based chemotherapy and targeted therapies. However, there is little data on the prognostic impact BRCA/ATM mutation all-cause overall survival mPC. In this retrospective cohort study, we identified patients aged ≥18 years with mPC (≥2 PC ...

BACKGROUND Approximately 5% of all breast cancers can be attributed to a mutation in the BRCA1 or BRCA2 gene. The genetic component of breast cancer in Colombia has been, for the most part, studied on cases from the Bogota region. Five different founder mutations were in two studies of breast cancer patients in the Bogota region. It is important that the frequency of mutations be established am...

OBJECTIVE Women who are carriers of BRCA gene mutations have an elevated lifetime risk of developing breast or ovarian cancer. Although a number of risk-reducing options are currently available to mutation carriers, uncertainty exists in terms of their efficacy. A systematic review of the literature was conducted to describe the utilization of screening and preventive surgery among unaffected m...

Women from site-specific hereditary breast cancer families who carry a BRCA1 or BRCA2 mutation are at increased risk for ovarian cancer. It is less clear, however, whether individuals from hereditary breast cancer families who do not carry such a mutation are also at increased ovarian cancer risk. To determine whether women from BRCA mutation-negative hereditary breast cancer families are at in...