CC March 2016 Hereditary Breast Cancer

echoecho's version from 2016-05-29 21:54


Question Answer
Define breast cancer susceptibility genes (BRCA) 1 and 2?these are tumor suppresor genes involved in the repair of double stranded breaks in genetic material by homologous recombination (HR)
A harmful mutation will lead to the development of breast cancer in about ___ to ____% of affected women by age 70 years?35; 84
While 5-10% of all breast cancer patients have a strong family hx, only ____% of those individual s have a BRCA mutation?25
Inheritance appears to be ______, and is associated with an earlier age of onset, a higher risk of ______ disease and association with _____ and other forms of cancer?dominant; bilateral; ovarian
Mutations int he BRCA 1 and BRCA2 genes have the greast ethnic prevalence in the ____ ____ population (___ times higher than the general population)?Ashkenazi Jewish; 10
List the cancer types related to the BRCA 1 gene mutation?1) breast CA 2) ovarian CA 3) cervical CA 4) uterine CA 5) pancreatic CA 6) colon CA
List the cancer types related to the BRCA 2 gene mutation?1) Breast CA 2) ovarian CA 3) pancreatic CA 4) gastric CA 5) gallbladder CA 6) bile duct CA 7) melanoma
Although no universal criteria for BRCA genetic testing in ASYMPTOMATIC women currently, exist, the USPSTF recomemnds screening for women who have ONE or MORE of the what elements in their family histories?1) Family member with breast CA dx before the age of 50 y.o. 2) Family member with b/l breast CA 3) Family hx of breast CA AND overian cancer 4) Breast cancer > 1 male relative 5) multiple cases of breast cancer in family 6) > 1 member with TWO primary types of BRCA related cancers (breast cancer, ovarian cancer, pancreatic cancer, Gleason > 7 prostate cancer, sarcoma, adrenocortical carcinoma, thyroid cancer, melanoma, gastrointestinal CA) 7) Ashkenazi Jewish ethnicity
*** The USPSTF recommends against screening in ASYMPTOMATIC women who have none of the above familial criteria due to what?negligible benefits and significant potential harms
In-office screening tools are easily available to help women assess their risk for ______ mutation?BRCA
List one of the simplest in-office tools to screen for BRCA mutation?Referral Screening Tool (
If screening is positive, what is the next step?referral for genetic counseling and possible BRCA gene testing
Compare the Gail Breast Cancer risk assessment to the Referral Screening Tool?the Gail breast cancer risk assessment is for cancer RISK, not BRCA risk
The vast majority (>80%) of breast cancer in BRCA-POSITIVE individuals are _____ _____ carcinomas?invasive ductal carcinoma
When comparing BRCA-POSITIVE individuals with BRCA negative individuals, the BRCA positive individuals have what compared to the BRCA negative individuals?BRCA POSITIVE individuals have a 1) higher pathologic grade 2) a higher rate of invasion 3) an increased likelihood of necrotic change 4) a lower rate of estrogen (ER), progesterone receptor (PR) and human epidermal growth factor receptor 2 (HER2) positivity
Women with breast cancer are often concerned about the risk of disease in their offspring and other close family members. The presence of a BRCA1 and BRCA 2 gene mutation increases what?the patient's risk for OTHER cancers and, if passed to offspring, increases their risk as well
*** In a patient with a PERSONAL history of breast cancer, the National Comprehensive Cancer Network recommends BRCA gene mutation counseling and testing if ONE or MORE of what elements are present?1) early age of onset (< 50 years) 2) Triple-negative (ER-negative, PR negative, HER2 negative) breast cancer 3) Two breast cancer primaries in a single individual 4) breast cancer at any age with > 1 blood relative with breast cancer < 50 years; > 1 close blood relative with ovarian cancer at any age; > 2 close blood relatives with breast cancer or pancreatic cancer at any age OR belonging to a population group at increased risk (Ashkenazi Jewish ethnicity) 5) > 1 family member on the same side of family with a combination of a breast cancer and > 1 of the following (especially if early onset) = pancreatic cancer, aggressive prostate cancer, sarcoma, adrenocortical carcinoma, brain tumor, endometrial cancer, leukemia/lymphoma, thyroid cancer, dermatologic manifestations and/or macrocephaly, hamartomatous polyps of GI tract, diffuse gastric cancer 6) ovarian cancer 7) male breast cancer 8) a known mutation in a breast cancer susceptibility gene within the family


Question Answer
What procedure is an option for women with a documented BRCA mutation or a strong family hx of breast cancer?prophylactic mastectomy
*** Markov modeling of prevention strategies for a 30 year old woman shows improved survival about regular surveillance of ____ years with tamoxifen (Nolvadex)(5 year use), ______ yeasr with prophylactic oophorectomy, ____ years with both tamoxifen and prophylactic oophorectomy, _____ years with prophylactic mastectomy and ____ years with both surgeries?1.8; 2.6; 4.6; 3.5; 4.9
The benefits of these interventions decrease when initiated at a ____ age?later
It should be noted that chemoprevention strategies in women with BRCA muations have limited data to support their use, true or false?true
What medication has the greast supportive data but is not recomemnded for women < 35 year of age or those with current or anticipated pregnancy?Tamoxifen
What medications have less supportive data and should be considered only in the setting of approved clinical trial? Raloxifene (Evista) and aromatase inhibitors
Studies of cost effectiveness demonstrate that _____ is the most cost effective preventive strategy; annual ______ with _____ imaging is highly effective but is much more expensive?surgery; mammography; MRI
What is the Genetic Information Nondiscriminitation Act of 2008 (GINA)?1) US federal law prohibiting the use of genetic information to discriminate in employment or the provision of health insurance 2) The Act does not prohibit the use of genetic information for life insurance or other types of insurance
Given implications for the patient's medical care, family members and insurability, _______ should be provided and _____ _______ obtained prior to ordering genetic testing?counseling; informed consent
*** SUMMARY = Breast cancer susceptibility genes (BRCA) 1 and 2 gene mutations influence the likelihood of breast cancer in women (and men) through what?impaired repair of damaged double stranded genetic materials (imparied homologous recombination)
*** SUMMARY = Screening with available web-based tools should be done when?family hx suggests the potential for hereditary breast cancer
*** SUMMARY = If screening is positive, what should be done?referral to a multidisciplinary team for genetic counseling and possible bRCA gene testing
*** SUMMARY = Women with breast CA dx at an early age (<50 y.o.) and / or specific criteria regarding personal or family hx of a variety of cancer diagnoses should be referred for what?genetic counseling and possible testing for BRCA mutations