Recommendations for Follow-up Care of Individuals With an Inherited Predisposition to Cancer

Burke, Wylie; Petersen, Gloria M.; Lynch, Patrick M.; Botkin, Jeffrey R.; Daly, Mary B.; Garber, Judy E.; Kahn, Mary Jo Ellis; McTiernan, Anne; Offit, Kenneth; Thomson, Elizabeth J.; Varricchio, Claudette G.

doi:10.1001/jama.1997.03540350065035

Cited by 426 publications

(95 citation statements)

References 45 publications

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“…Choices available to individuals with an identified BRCA1 or BRCA2 mutation include surveillance, prophylactic surgery, and chemoprevention. 16,17 Most prior research has focused on communication of BRCA1 and BRCA2 test results with siblings and children. These studies found that the majority of male and female participants informed siblings and children of their test results, whether these results were positive, negative, or inconclusive.…”

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Family communication about positive BRCA1 and BRCA2 genetic test results

McGivern

Everett

Yager

et al. 2004

Genetics in Medicine

126

180

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Purpose: The identification of a BRCA1 or BRCA2 genetic mutation can provide important health information to individuals who receive this result, but it can also provide crucial cancer risk information to family members. Most of the research on communication of genetic test results has focused on first degree relatives. The purpose of this retrospective study was to examine the process of communicating a positive BRCA1 or BRCA2 genetic test result to male and female first, second, and third degree relatives. Methods: Participants were 38 female mutation carriers who responded to a written survey assessing the number and relationship of relatives informed, methods used to inform relatives, topics discussed, and motivations and barriers for communication. Results: Overall, 59%(470/803) of first, second, and third degree relatives were informed. The proportion of informed parents, siblings, and offspring was nearly twice that of more distant relatives including nieces, nephews, aunts, uncles, grandchildren, and cousins (88% versus 45%; P ϭ 0.02). The method of communication differed by the gender of the relative, as did some of the topics discussed. The most important reasons for discussing the genetic test results were (1) to inform the relatives of their risk, (2) to suggest that they be tested, and (3) to fulfill a perceived duty to inform. The major barrier to communication was little contact and/or emotionally distant relationships. Genetic information is rapidly becoming an integral part of clinical management for numerous medical conditions. The current medical model limits the delivery of genetic information to the individual seeking services, when in reality the information has implications for the entire family. Because of confidentiality, privacy issues, and health care regulations, the responsibility for sharing genetic test results with relatives falls on the index patient who may not be prepared or willing to assume this role. Understanding the determinants of communication about genetic test results will assist health care providers in addressing this critical issue.Previous research studies have explored family communication about a variety of genetic conditions; however, the bulk of research on family communication with regard to genetic testing has focused on hereditary breast and ovarian cancer syndrome. [1][2][3][4][5][6][7][8][9] This is likely due to the increased availability and utilization of cancer genetic counseling services as well as the complex clinical and psychological issues related to testing for cancer risk. 10 -12 Two major breast cancer genes, BRCA1 and BRCA2, are responsible for 5% to 10% of breast and ovarian cancer cases. Mutations in these genes are inherited in an autosomal dominant manner and confer an inherited predisposition to breast, ovarian, and other cancers. [13][14][15] DNA-based testing for BRCA1 and BRCA2 cancer-predisposing mutations is available on a clinical basis. The identification of a disease-associated mutation in an individual allows for predictive test...

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confidence: 99%

Family communication about positive BRCA1 and BRCA2 genetic test results

McGivern

Everett

Yager

et al. 2004

Genetics in Medicine

126

180

View full text Add to dashboard Cite

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“…possible contribution of mutations within the inherited BC susceptibility gene, BRCA1, to CRC pathogenesis: allelic losses at the BRCA1 locus, putatively targeting this tumour suppressor gene, have been detected in almost 50% of sporadic CRCs (GarciaPatino et al, 1998); Individuals within BRCA1-linked families have an increased risk for developing CRC -the relative risk of BRCA1 mutation carriers (by haplotype analysis) for CRC was found to be 4.11 (Ford et al, 1994) and the risk for developing CRC in relatives of familial BC patients is increased over that of the general population (Phipps and Perry, 1989;Slattery and Kerber, 1994;Burke et al, 1997;Olsen et al, 1999). However, the increased risk for developing CRC in patients with familial BC is not uniformly reported by all investigators (Anderson and Badzioch, 1993;Lin et al, 1999).…”

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The frequency of the predominant Jewish mutations in BRCA1 and BRCA2 in unselected Ashkenazi colorectal cancer patients

et al. 2001

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It is presently unclear whether carriers of BRCA1 mutations have an increased risk for colorectal cancer (CRC). To gain insight into this issue, 225 unselected Ashkenazi Jewish CRC patients were tested for the presence of the three common Jewish BRCA1/2 germline mutations: 185delAG and 5382insC ( BRCA1 ) and 6174delT ( BRCA2 ). A total of four carriers was found (4/225, 1.78%). This frequency is similar to the estimated normal Ashkenazi population frequency, thus suggesting that these specific mutations do not contribute to CRC predisposition.© 2001 Cancer Research Campaign http://www.bjcancer.com

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“…To date, hundreds of these families have been identified with BRCA mutations and the majority has received counselling regarding the test results. Follow-up care of mutation carriers has focused on cancer surveillance and surgical options (Burke et al, 1997). However, little is known about the impact carrier status has on the development of depression, or the resulting changes in the individual's body image (Lerman et al, 1996Croyle et al, 1997;Lynch et al, 1997).…”

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Attitude towards prophylactic surgery and effects of genetic counselling in families with BRCA mutations

et al. 2000

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Mutation analysis of the BRCA1 and BRCA2 genes has become widely available to hereditary breast and ovarian cancer families (HBOC) or breast-cancer-only families (HBC) in North America and Europe. To date, hundreds of these families have been identified with BRCA mutations and the majority has received counselling regarding the test results. Follow-up care of mutation carriers has focused on cancer surveillance and surgical options (Burke et al, 1997). However, little is known about the impact carrier status has on the development of depression, or the resulting changes in the individual's body image (Lerman et al, 1996Croyle et al, 1997;Lynch et al, 1997). In the Lerman et al (1996) study population, 18% stated their intent to undergo prophylactic mastectomy (PM) and 33% stated their intent to under prophylactic oophorectomy (PO). The motivational issues involved in deciding for or against prophylactic surgery, however, still await detailed study. Similarly, hardly anything is known about the feelings associated with this decision or their effect on the individual's quality of life in general.The major aim of this study was to study the attitude of mutation carriers in regard to PM and PO. Furthermore, it assessed the short-term effect of knowledge about carrier status on the occurrence of depression. PATIENTS AND METHODS Study populationA total of 138 individuals, from 35 families, that had been selected and counselled through the genetic counselling service of the Division of Senology, University of Vienna, were enrolled on the basis of previously detected BRCA1 or BRCA2 mutations. None of the family members had received the results of the BRCA testing. All individuals who requested their results were informed about this study. Family members who elected to participate gave their written consent. Prior to mutation result disclosure and counselling study participants received the first questionnaire of this study. The sequence in which the various elements of the survey were conducted is depicted in Figure 1.All female mutation carriers are examined every 6 months for the purposes of cancer surveillance and psychosocial follow-up. The observation period for this study began in January 1996 and is currently still being continued. This study was approved by the University of Vienna Institutional Review Board. Attitude of mutation carriers towards the option of PM and/or POFemale mutation carriers received a questionnaire comprising 12 items concerning PM and 11 items concerning PO to be rated on a five-point scale. Since the relevant literature does not provide a standardized questionnaire on this subject, two special questionnaires were developed on the basis of past conversations with SummaryThe intent of this study was to evaluate the effect that an awareness of being a BRCA1 or BRCA2 mutation carrier has on the attitude towards prophylactic surgery and on developing depression symptoms. Thirty-five families were selected on the basis of previously detected BRCA1 or 2 mutations and 90 family members were giv...

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Recommendations for Follow-up Care of Individuals With an Inherited Predisposition to Cancer

Cited by 426 publications

References 45 publications

Family communication about positive BRCA1 and BRCA2 genetic test results

Family communication about positive BRCA1 and BRCA2 genetic test results

The frequency of the predominant Jewish mutations in BRCA1 and BRCA2 in unselected Ashkenazi colorectal cancer patients

Attitude towards prophylactic surgery and effects of genetic counselling in families with BRCA mutations

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