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Biomedical subjects

E T Matloff

Publications and source records attributed to E T Matloff.

6 recordsLinked to original sources
PubMed2000

The breast surgeon's role in BRCA1 and BRCA2 testing.

Five percent to 10% of all women who develop breast cancer carry a hereditary mutation in the genes BRCA1 or BRCA2. Genetic testing is now clinically available, and the results of such testing can dramatically alter a patient's risks for an ipsilateral or contralateral primary breast cancer and ovarian cancer. Therefore, genetic testing will become integral in tailoring surveillance, chemoprevention, and surgical management plans for patients at risk for hereditary cancer syndromes. Such results will also impact the cancer risks for the patient's nuclear and extended family members. Surgeons will play a pivotal role in eliciting personal and family histories from patients, determining which of those histories is suggestive of a germline mutation, facilitating referrals for genetic counseling and testing, and incorporating the results of genetic testing into the patient's short- and long-term management plans.

BRCA2 Protein↗
PubMed2000

What would you do? Specialists' perspectives on cancer genetic testing, prophylactic surgery, and insurance discrimination.

PURPOSE: To examine what cancer genetics specialists predict they would do personally if they were at 50% risk of carrying a mutation that predisposes to hereditary breast/ovarian cancer (BRCA1/BRCA2) and hereditary nonpolyposis colon cancer (HNPCC). METHODS: Questionnaire survey of the membership of the National Society of Genetic Counselors (NSGC) Special Interest Group (SIG) in Cancer. RESULTS: Of the 296 active members of the NSGC Cancer-SIG surveyed, 163 (55%) responded. Eighty-five percent predicted that if they had a 50% risk of carrying a BRCA1/BRCA2 mutation, they would pursue genetic testing. If they tested positive for a mutation at age 35, 25% predicted they would pursue prophylactic bilateral mastectomies and 68%, prophylactic oophorectomy. Ninety-one percent of respondents believe they would pursue genetic testing for HNPCC, and 17% would elect prophylactic colectomy; 54%, prophylactic hysterectomy; and 52%, prophylactic oophorectomy if they tested positive for a mutation. The majority (68%) would not bill their insurance companies for genetic testing because of fear of discrimination, and 26% would use an alias when undergoing testing. Fifty-seven percent of counselors would seek professional psychologic support to help them cope with the results of testing. CONCLUSION: A large percentage of cancer genetic counseling providers predicted they would opt for prophylactic surgery at a young age if they carried a BRCA or HNPCC mutation, and most would seek professional psychologic assistance when undergoing testing. More than half of respondents would not bill their insurance companies for genetic testing, largely because of fear of genetic discrimination. The vast majority of those providers most familiar with cancer genetic testing and its associated medical, psychologic, and legal implications would still pursue genetic testing.

Adult↗
PubMed1998

The impact of genetic screening on surgical decision-making in breast cancer.

For centuries, clinicians have recognized that a segment of their patient population is at increased risk to develop breast cancer based on their family history of the disease. Due to the absence of molecular information, it was not uncommon for women and their surgeons to make decisions regarding management of prophylactic surgery based solely on their family history, without specific information about the patient's personal risk to develop the disease. It has been only within the past 7 years that linkage for the breast cancer (BRCA) susceptibility genes has been established, and within the past 3 years that the genes have been cloned. Although clinical testing for the BRCA genes has been available for less than 2 years, it is already apparent that the implications for surgeons and their patients are significant.

Journal Article↗
PubMedDate not supplied

Framework for a proactive parent support group: the Syracuse cystic fibrosis model.

Many support groups are organized and run according to goals and by-laws set by facilitators. This article introduces a model in which all goals and by-laws are created by the parents based on their group's specific needs. It also describes a "proactive" approach in which the group members identify projects or problems in their community and collectively form a plan in an attempt to improve these situations. This model is based on the real-life experience of a cystic fibrosis parent support group in Syracuse, New York. Lessons learned from this model can be applied to other parent support groups.

Adult↗
PubMedDate not supplied

Local recurrence in the conservatively treated breast cancer patient: a correlation with age and family history.

BACKGROUND: The purpose of this study was to evaluate the relationships among young age at diagnosis, family history status, and local recurrence in breast cancer patients treated with lumpectomy and radiation therapy. METHODS: Between January 1970 and December 1990, 984 early-stage breast cancer patients were treated with conservative surgery and radiation therapy at Yale-New Haven Hospital. All patient data, including demographics, staging information, treatment, and outcome variables were entered into a computerized database. The current study focused on the relationships between young age, family history, and local relapse. A group of 52 patients who experienced a local recurrence in the conservatively treated breast and 52 matched control patients who had not experienced a local recurrence were asked to participate in a study to determine whether local recurrence was associated with family history. Detailed family history interviews were conducted, and pedigrees were analyzed by a genetic counselor who was blind to the clinical history of the patients. RESULTS: As of September 1997, with a median follow-up of 12.3 years for the 984 patients in the database, the overall actuarial 10-year survival is 73%, and the 10-year distant metastasis-free survival is 78%. Of the 984 patients, 112 have experienced a local relapse in the conservatively treated breast, resulting in a 10-year actuarial breast relapse rate of 15%. The 10-year survival after breast relapse is 69%. Patient age tested as a continuous variable correlated strongly with ipsilateral breast tumor relapse. Using age 40 as a cutpoint, patients aged 40 years or less had a significantly higher local relapse rate than patients older than 40 years (P < 0.001). Although the relationship between local relapse and young age was strong, no association was found between family history and local relapse in the detailed family history study. CONCLUSIONS: Young age at diagnosis was a significant prognostic factor for local relapse. In a detailed family history study using a case-control design, no significant differences in family history status were found between patients who had experienced a local relapse and patients who had not.

Adult↗