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Mark Robson, MD
MarkRobsonMD (Physician - Oncology - Hematology/Oncology (Verified) )| Communities: Breast Cancer | Answers: 8 |
| Member Since: Jul. 2012 |
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Professional Statement
I am a board-certified medical oncologist who specializes in the identification and management of individuals who have inherited an increased risk for cancer. As Clinic Director of the Clinical Genetics Service at Memorial Sloan-Kettering Cancer Center, I concentrate on helping men and women with cancer incorporate genetic information into their treatment plan. For those who are at increased risk, but have not been diagnosed, I work to develop a plan that will help them either prevent the development of cancer, or limit its impact if it occurs. Along the same lines, my research focus has studied the best ways to use genetic information to improve the outcomes of those with or at risk for hereditary cancers of all types.
Consistent with the goals I pursue in my clinical genetics work, my oncology practice is weighted toward the management of young women with breast cancer, especially hereditary breast cancer. As part of that practice, I participate in the development of new treatments, such as PARP inhibitors, which may be particularly useful for this group of women. Finally, I also maintain a separate practice where I coordinate screening for women with mutations in BRCA1 or BRCA2.
Consistent with the goals I pursue in my clinical genetics work, my oncology practice is weighted toward the management of young women with breast cancer, especially hereditary breast cancer. As part of that practice, I participate in the development of new treatments, such as PARP inhibitors, which may be particularly useful for this group of women. Finally, I also maintain a separate practice where I coordinate screening for women with mutations in BRCA1 or BRCA2.
Professional Info
Credential: MD
Primary specialty: Oncology - Hematology/Oncology
Medical school: University of Virginia School of Medicine
Residency: Walter Reed Army Medical Center
Fellowship: Walter Reed Army Medical Center
Areas of expertise: General Hematology/Oncology; Breast Cancer; Genetic Predisposition to Cancer; Cancer Risk Counseling
Hospital affiliation: Memorial Sloan-Kettering Cancer Center
Practice address:
1275 York Avenue
New York, NY
10065
Practice phone number: 646-888-4050
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MarkRobsonMD Activities
Current recommendations for breast cancer screening in women with BRCA mutations include annual mammography and annual breast MRI beginning at age 25. There is a discussion of the early mammography controversy in another question (http://talkabouthealth.com/for-young-brca-women-how-do-we-know-the-benefits-of-mammogram-screening-outweighs-the-risk-of-radiation-induced-breast-cancer-from-mammograms).
There is a common policy to try to alternate mammography and MRI, performing one or the other every 6 months. It is not proven that this is a superior approach compared to doing both exams at the same time once a year. It does not appear that ultrasound adds any value in women who are having mammography and MRI. It is also not clear that breast radionucleide scanning (eg Sestamibi) or PET scan add anything and we do not perform them at our institution for breast cancer screening. A number of institutions are investigating novel breast screening technologies such as contrast-enhanced screening mammography and tomosynthesis. The roles of these new technologies remain to be defined.
There is a common policy to try to alternate mammography and MRI, performing one or the other every 6 months. It is not proven that this is a superior approach compared to doing both exams at the same time once a year. It does not appear that ultrasound adds any value in women who are having mammography and MRI. It is also not clear that breast radionucleide scanning (eg Sestamibi) or PET scan add anything and we do not perform them at our institution for breast cancer screening. A number of institutions are investigating novel breast screening technologies such as contrast-enhanced screening mammography and tomosynthesis. The roles of these new technologies remain to be defined.
New answer by MarkRobsonMD (Physician - Oncology - Hematology/Oncology (Verified))
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2 months ago
TP53 mutations are associated with the Li-Fraumeni syndrome. This is a broad cancer predisposition syndrome. Breast cancer is actually the most common malignancy seen in families transmitting TP53 mutations. TP53 cancers are frequently very early in onset, and about 7% of women with breast cancer at or before the age of 30 actually have TP53 mutations. In fact, in very early onset breast cancer, TP53 mutations are probably as common as BRCA1 or 2 mutations. Unlike the situation in BRCA1/2 mutations, breast cancers in Li-Fraumeni families are frequently HER-2 positive. They often are estrogen receptor positive. It is important to identify these mutations because there are increased risks of childhood cancer, and increased risk of multiple sites. For this reason specialized screening programs are important for Li-Fraumeni families.
New answer by MarkRobsonMD (Physician - Oncology - Hematology/Oncology (Verified))
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2 months ago
We do a large amount of peri-diagnostic testing in women who have just been diagnosed with breast cancer. It is obviously a difficult time for these women, but we have found that many of them are interested in the implications of carrying mutation and would like to have the information to plan their surgical treatment.
We think is important for there to be appropriate pretest counseling, even though this requires an additional visit in the setting of what is already a fairly intensive period with multiple medical visits. But, it is only with a careful discussion that women can understand what her options are in the event of the positive test, and can understand she should not use a variant of uncertain significance to plan her care or justify extensive surgery.
We have seen a number of women who were not offered testing until they completed primary treatment, and who were upset that they were not given a full range of options at their initial diagnosis. On the other side of the coin, women who are not prepared to handle the information defer counseling and testing until they are more ready. This is another reason why pretest counseling should be offered - it gives the patient the opportunity to decline.
We think is important for there to be appropriate pretest counseling, even though this requires an additional visit in the setting of what is already a fairly intensive period with multiple medical visits. But, it is only with a careful discussion that women can understand what her options are in the event of the positive test, and can understand she should not use a variant of uncertain significance to plan her care or justify extensive surgery.
We have seen a number of women who were not offered testing until they completed primary treatment, and who were upset that they were not given a full range of options at their initial diagnosis. On the other side of the coin, women who are not prepared to handle the information defer counseling and testing until they are more ready. This is another reason why pretest counseling should be offered - it gives the patient the opportunity to decline.
New answer by MarkRobsonMD (Physician - Oncology - Hematology/Oncology (Verified))
1
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2 months ago
This is a very complicated (and good) question for which there are no good clinical trial data. The performance of mammography in very young women (under age 40) is likely not as good as it is in older women. However, we know that about 10% of all breast cancers in mutation carriers are identified by mammogram rather than MRI. Some of these are because of specific factors that decrease the sensitivity of MRI, like extensive background enhancement. Others occur because the cancer is early and presenting with microcalcifications that are detected by mammogram without causing enhancement on the MRI. It is important to remember that in the available studies, the sensitivity of MRI for detecting cancer is only about 75 or 80%.
Obviously if there were no concerns about risk from mammography, we would be happy to perform both modalities. The issue of radiation risk in mutation carriers remains unresolved. Although there are a couple of studies that have suggested a possibility of increased breast cancer risk in mutation carriers who have been exposed to radiation at a young age, it is not clear that that risk is due to mammography. Furthermore the studies are retrospective and may be subjective to various forms of bias that make their conclusions less concrete than we would like.
At this time I think that all we can say is that the combination of mammography and MRI is the standard recommendation from groups such as the NCCN. While it may be that MRI alone is sufficient, particularly in women under the age of 30, we do not have trial data to confirm this.
Obviously if there were no concerns about risk from mammography, we would be happy to perform both modalities. The issue of radiation risk in mutation carriers remains unresolved. Although there are a couple of studies that have suggested a possibility of increased breast cancer risk in mutation carriers who have been exposed to radiation at a young age, it is not clear that that risk is due to mammography. Furthermore the studies are retrospective and may be subjective to various forms of bias that make their conclusions less concrete than we would like.
At this time I think that all we can say is that the combination of mammography and MRI is the standard recommendation from groups such as the NCCN. While it may be that MRI alone is sufficient, particularly in women under the age of 30, we do not have trial data to confirm this.
New answer by MarkRobsonMD (Physician - Oncology - Hematology/Oncology (Verified))
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2 months ago
I would suggest that the first step is to seek out a genetic counselor or medical oncologist who has experience in managing men and women at hereditary risk. They can help you develop a course of action and refer you to appropriate specialists for discussion and management of your particular needs.
New answer by MarkRobsonMD (Physician - Oncology - Hematology/Oncology (Verified))
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2 months ago
For newly diagnosed breast cancer patients, the major purpose of mutation testing is to guide decisions about local therapy. Specifically, women who have mutations often choose bilateral mastectomy as their primary local treatment. This is because women with mutations have an increased risk of developing contralateral breast cancer. However, it is not clear that bilateral mastectomy will improve survival from the initial breast cancer. Many mutation carriers have been successfully treated with breast conservation therapy.
Obviously, the presence of a mutation is also associated with an increased ovarian cancer risk. This is usually managed by preventive salpingo-oophorectomy. However, there is no need for this to be done together with primary breast cancer treatment, unless it makes sense from a medical perspective. It is important to remember that the presence of a mutation does not increase the risk the original cancer will return, and survival for BRCA mutation associated breast cancer appears to be the same as survival for non-mutation associated cancer. Therefore, the presence of a mutation should not alter recommendations for systemic adjuvant therapy (chemotherapy).
Obviously, the presence of a mutation is also associated with an increased ovarian cancer risk. This is usually managed by preventive salpingo-oophorectomy. However, there is no need for this to be done together with primary breast cancer treatment, unless it makes sense from a medical perspective. It is important to remember that the presence of a mutation does not increase the risk the original cancer will return, and survival for BRCA mutation associated breast cancer appears to be the same as survival for non-mutation associated cancer. Therefore, the presence of a mutation should not alter recommendations for systemic adjuvant therapy (chemotherapy).
New answer by MarkRobsonMD (Physician - Oncology - Hematology/Oncology (Verified))
1
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2 months ago
There is a tremendous amount of information on the Internet, some of which is good and some of which is not so good. The major options for breast cancer prevention are prophylactic mastectomy or surveillance with mammography and MRI.
The major options for ovarian cancer risk management are prophylactic salpingo-oophorectomy or transvaginal ultrasound and CA 125 measurement. One can certainly research these options using medical websites or obtaining review articles through PubMed. However, at the end of the day, nothing substitutes for a conversation with a healthcare provider who is an experienced an expert in this area.
The question of prophylactic mastectomy is probably the one for which there are the most opinions on the Internet. It is not unreasonable for a woman to educate herself about reconstruction options should she be considering this surgery. However, it is important to remember that the decision to have this surgery is a very individual one and that what people on the Internet have chosen is not necessarily the right thing for the person doing the research.
The major options for ovarian cancer risk management are prophylactic salpingo-oophorectomy or transvaginal ultrasound and CA 125 measurement. One can certainly research these options using medical websites or obtaining review articles through PubMed. However, at the end of the day, nothing substitutes for a conversation with a healthcare provider who is an experienced an expert in this area.
The question of prophylactic mastectomy is probably the one for which there are the most opinions on the Internet. It is not unreasonable for a woman to educate herself about reconstruction options should she be considering this surgery. However, it is important to remember that the decision to have this surgery is a very individual one and that what people on the Internet have chosen is not necessarily the right thing for the person doing the research.
New answer by MarkRobsonMD (Physician - Oncology - Hematology/Oncology (Verified))
1
Answer |
2 months ago
The decision is very complicated as to when to disclose to the children that there is a mutation in the family, or a predisposition to cancer. There are no hard and fast guidelines, but in general it would be sensible to wait until the child demonstrates an interest in learning this type of information rather than forcing disclosure at a particular age.
There are no known implications for childhood health. When young women reach the age of 25, we recommend that they begin breast cancer screening if they carry the mutation, and therefore this is the age at which we recommend testing be considered. There may be reasons why a woman would test younger, such as making decisions about whether or not to use pre-implantation diagnosis to have a child. But we have found that most women prefer to be more established in their lives before finding out whether or not they carry a mutation. This is another reason for not testing children. In testing a child, you take away his or her ability to determine when he or she will learn their mutation status. Given the lack of medical implications for children, it seems that the best way to respect the child's autonomy is to refer them for counseling at an appropriate age.
There are no known implications for childhood health. When young women reach the age of 25, we recommend that they begin breast cancer screening if they carry the mutation, and therefore this is the age at which we recommend testing be considered. There may be reasons why a woman would test younger, such as making decisions about whether or not to use pre-implantation diagnosis to have a child. But we have found that most women prefer to be more established in their lives before finding out whether or not they carry a mutation. This is another reason for not testing children. In testing a child, you take away his or her ability to determine when he or she will learn their mutation status. Given the lack of medical implications for children, it seems that the best way to respect the child's autonomy is to refer them for counseling at an appropriate age.
New answer by MarkRobsonMD (Physician - Oncology - Hematology/Oncology (Verified))
1
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2 months ago
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