BRCA1/2 mutation identifies healthy women who are at 5 to 20 fold increased risk for future development of ovarian cancer (OC) and breast cancer (BC) [1]. In general, BRCA 1 mutation carriers have an elevated lifetime risk of BC (65-85 %) and a slightly lower associated lifetime risk of OC (20-50%); whereas in BRCA 2 mutation it is reported an OC incidence of 10-15 % and a similar BC risk as BR...

Currently little is known about correlations between the type and location of BReast CAncer genes (BRCA) 1/2 mutations response to Poly (ADP-ribose) polymerase inhibitors (PARPi) in ovarian cancer (OC). Clinical data from PAOLA1 study suggest that patients with DNA binding domain (DNA-BD) BRCA1 are more sensitive combination olaparib/bevacizumab those DNA-BD BRCA2 confer excellent outcomes. We ...

Detecting mutation in BRCA1/2 is a generally accepted strategy for screening ovarian cancers that have impaired homologous recombination (HR) ability and improved sensitivity to PARP inhibitor. However, a substantial subset of BRCA-mutant ovarian cancer patients shows less impaired or unimpaired HR ability, resulting in nonequivalent outcome after ovarian cancer development. We hypothesize that...

Hereditary ovarian cancers associated with germline mutations in ei ther BRCAl or BRCA2 were studied to determine whether somatic mu tation of the /'.I.I gene is required for BRCA-linked ovarian tumorigenesis and further, whether the spectrum of additional somatic molecular genetic alterations present in these tumors differs from that known to exist in sporadic ovarian cancers. Forty tumors, 29...

PURPOSE/OBJECTIVES To explore the experiences of young, single women who are at increased risk for hereditary breast and ovarian cancer (HBOC) because of a BRCA mutation. RESEARCH APPROACH Qualitative. SETTING Seven states and Canada. PARTICIPANTS 11 single women aged 18-35 years who tested positive for a BRCA mutation. METHODOLOGIC APPROACH Grounded theory with in-depth individual inte...

BRCA mutation carriers are recommended to start mammographic screening for breast cancer as early as age 25-30 years. We used an excess relative risk model (based on a pooled analysis of three cohorts with 7600 subjects who received radiation exposure) to estimate the lifetime risk of radiation-induced breast cancer from five annual mammographic screenings in young (<40 years) BRCA mutation car...

BACKGROUND Although breast cancer is relatively common, only about 5% of cases are due to inheritance of highly penetrant cancer susceptibility genes. The majority of these are caused by mutations in the BRCA1 and BRCA2 genes, which are also associated with an increased risk of ovarian cancer. Increased surveillance, chemoprevention, and prophylactic surgeries are standard options for the effec...

BACKGROUND Large rearrangements account for 8% to 15% of deleterious BRCA mutations, although none have been characterized previously in individuals of Mexican ancestry. METHODS DNA from 106 Hispanic patients without an identifiable BRCA mutation by exonic sequence analysis was subjected to multiplexed quantitative differential PCR. One case of Native American and African American ancestry wa...

BACKGROUND Complementary and alternative medicine (CAM) use is well documented among breast cancer patients and survivors, but little evidence is available to describe rates and patterns of use among women at increased genetic risk of breast cancer. METHODS A pre-visit telephone interview was conducted to ascertain CAM use among the BRCA mutation carriers enrolled in a high-risk breast cancer...