BRCA Genetic Evaluation
Genetic counseling and BRCA genetic testing can help individuals understand their cancer risks which can assist in determining appropriate surveillance measures and possible risk reducing strategies to detect cancer early and/or decrease the chance to develop cancer.
Genetic Counseling at The Breast Institute at Northern Westchester Hospital will help you understand the risks, benefits and limitation of BRCA genetic testing, along with the potential impact of testing for other family members.
Our Certified Genetic Counselor guides you and your family with expertise in both genetic science and emotional counseling.
While BRCA genetic testing is discussed, there is no requirement to have genetic testing when requesting a consultation with the Genetic Counselor.
A genetic counseling session can help you determine whether gene testing is right for you.
If you have recently been diagnosed with breast cancer or ovarian cancer, BRCA genetic testing information may influence the choice of breast cancer treatment. It can also identify the risk of family members, so they receive proper care.
What to Expect from Genetic Counseling
Meet the Genetic Counselor, Nancy Cohen, MS, CGC
Your physician will obtain a family history and perform initial risk analysis. Your physician may counsel you regarding genetic testing options including BRACAnalysis®. Your physician may refer you, or your can ask your physician about genetic counseling.
You are welcomed to speak with the Genetic Counselor prior to your session to learn more about the genetic counseling process.
Appointment scheduling is done by the Genetic Counselor, who can answer your initial questions before scheduling a consultation.
Our patients meet with the Genetic Counselor in a comfortable, quiet and aesthetically pleasing consultation room.
Our patients are provided with a comprehensive, clearly written summary of their genetic counseling session.
To provide continuity of care, our patients are referred to other NWH New York breast surgery specialists.
We refer our patients to local support organizations when desired.
Benefits of Genetic Counseling
- Detailed education about hereditary cancer
- Comprehensive evaluation of personal and family medical history
- Hereditary cancer risk assessment and risk to other family members
- Genetic testing options and testing
- Cancer screening and risk reduction recommendations
- Psychological support and referrals
- Referrals to clinical research trials and research registries
Who Should Meet with a Cancer Genetic Counselor
Individuals who may benefit from Genetic Counseling include those with a personal or family history of:
- Cancer diagnosed before age 50
- Multiple close family members with the same or related cancers (ex. breast and ovarian; colon and uterine)
- Two or more primary cancer diagnoses in the same individual
- Rare cancers or tumors(ex. male breast cancer, triple negative breast cancer, medullary thyroid cancer, adrenocortical carcinoma, pheochromocytoma)
- Ovarian Cancer
- Other features associated with a hereditary cancer syndrome (ex. multiple colon polyps)
- Ashkenazi Jewish ancestry with breast or ovarian cancer
- A known familial mutation in a cancer predisposition syndrome gene
- Concern about developing cancer because of family history
BRCA Gene Testing
BRCA mutations are responsible for approximately half of the hereditary causes of breast cancer in families and approximately 95% of families with both breast and ovarian cancer. While 20% to 30% of women with breast cancer have a family history of the condition, only 5-10% of all female breast cancer is hereditary1. Men may also develop breast cancer, accounting for less than 1% of all cases of breast cancer2. A significant amount of male breast cancer is thought to be hereditary.
BRCA genetic testing can be done to determine if there is a mutation (change) in the BRCA1 or BRCA2 tumor suppressor genes that causes an increased risk for breast, ovarian and other cancers.
If BRCA genetic testing reveals that an individual has a BRCA gene mutation then his/her siblings and children have a 50% chance to also have the mutation. Mutations can be inherited from either the individual’s mother or father and an individual who carries a mutation can still pass it on even if they did not develop cancer themselves.
Other Hereditary Cancer Syndromes
The NWH Breast Institute can help to identify the forming of a mutation and prevent against the development and spread of other types of cancers, as well.
Although BRCA gene mutations represent the majority of the known breast cancer susceptibility genes, mutations in several other genes have also been shown to increase the risk for breast and other cancers, including:
- p53 (Li-Fraumeni syndrome)
- PTEN (Cowden syndrome)
- STK11/LKB (Peutz-Jeghers syndrome)
- CDH1 (Hereditary diffuse gastric carcinoma)
There are also other hereditary cancer syndromes that are associated with increased risk for cancers other than breast. Therefore, it is important for individuals interested in having genetic testing because of a personal and/or family history of cancer to have risk assessment and genetic counseling prior to BRCA genetic testing or other genetic testing.
If BRCA genetic testing or other genetic testing is performed…
- Our patients receive results by telephone, with a follow-up appointment in-person if results are positive or require additional review.
- Our patients also receive a written summary of results in the mail,reviewing the meaning of genetic testing results.
Schedule an appointment with our Genetic Counselor to discuss your answers and estimate your risk. Request an appointment online or call: 914.242.7649 or 914.242.7640
Prepare for a Genetic Counseling Appointment
Prior to your BRCA genetic testing appointment, complete the Family History Form and the Health Questionnaire found here.
If possible, bring medical records, including any genetic testing results and tumor pathology reports, for yourself and/or affected relative(s).
Either scan and email completed forms and other records directly to firstname.lastname@example.org, or fax to Nancy Cohen, MS, CGC: 914.242.7682 one week prior to the appointment.
Inform us if you may need an interpreter.
Arrange for a relative or friend to attend the session with you if you think it would be helpful to you.
1 ASCO Hereditary Breast and Ovarian Cancer Syndrome presentation material
2 Tai, Domchek, Parmigiani, & Chen. Breast Cancer Risk among Male BRCA1 and BRCA2 Mutation Carriers. J Natl Cancer Inst 2007; 99: 1811-4