Use of Genetic Testing and Prophylactic Mastectomy and Oophorectomy in Women With Breast or Ovarian Cancer From Families With a <i>BRCA1</i> or <i>BRCA2</i> Mutation

Meijers-Heijboer, Hanne; Brekelmans, C. T. M.; Menke-Pluymers, Marian B. E.; Seynaeve, Caroline; Baalbergen, Astrid; Burger, Curt W.; Crepin, Ellen; Ouweland, Ans W.M. van den; Geel, Bert van; Klijn, Jan G.M.

doi:10.1200/jco.2003.09.052

Cited by 119 publications

(79 citation statements)

References 33 publications

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“…This high percentage is related to various factors: 1) most women were index cases; 2) due to the high risk of BC, many relatives carrying a BRCA1 mutation and, to a lesser extent, relatives carrying a BRCA2 mutation, had already developed BC at the time of SO; or 3) women with a history of BC more readily accept SO. As shown in the studies by Scheuer et al 38 and Meijers-Heijboer et al, 39 prophylactic SO has been demonstrated to offer about a 50% reduction of the risk of either a first BC in women with no previous BC or contralateral BC in women with a previous BC. 10,11,[20][21][22] In the present series, 7 BCs occurred after SO: 3 BCs among the 16 women with no personal history of BC, and 4 contralateral BCs among patients with a history of BC.…”

Section: Discussionmentioning

confidence: 90%

Prophylactic salpingo‐oophorectomy in a series of 89 women carrying a BRCA1 or a BRCA2 mutation

Laki

Kirova

This

et al. 2007

Cancer

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BACKGROUND.Prophylactic salpingo‐oophorectomy (SO), which is recommended in BRCA1/2 mutation carriers, still needs to be reappraised.METHODS.In all, 89 BRCA1/BRCA2 mutation carriers underwent SO between 1994–2004. Past medical and familial history, SO, results and survival after SO were analyzed.RESULTS.The series consisted of 56 BRCA1 and 33 BRCA2 mutation carriers. All but 1 had a family history of breast (BC) and/or ovarian cancer; 42 BRCA1 and 31 BRCA2 had a personal history of BC. The median age at SO was 44 (BRCA1) and 49.5 (BRCA2) years for women without previous BC (not significant) and 48 (BRCA1) and 53 BRCA2) years (P = .03) for women with previous BC. Occult ovarian (n = 2) and/or fallopian (n = 3) carcinomas were found in 4 patients (4.5%): 1 experienced recurrence (4 years), 2 are disease‐free (26 and 38 months of follow‐up), and 1 died from BC (12 months). Among the other 69 patients with previous BC (median follow‐up, 42 months), 14 developed ipsilateral or contralateral BC and 8 developed metastatic disease. Among the 16 patients without previous BC (median follow‐up, 27 months), 3 developed BC. Of the 89 patients, 85 are still alive: 3 died from BC and 1 died from pancreatic cancer. No peritoneal malignancy was observed.CONCLUSIONS.This study shows that prophylactic SO remains an important option for BRCA1/2 mutation carriers as asymptomatic ovarian/fallopian cancers were found in 4.5% of patients. However, a longer follow‐up and larger series are required to more precisely evaluate the benefits of this procedure in terms of BC incidence, peritoneal malignancy, or recurrence. Cancer 2007. © 2007 American Cancer Society.

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Section: Discussionmentioning

confidence: 90%

Prophylactic salpingo‐oophorectomy in a series of 89 women carrying a BRCA1 or a BRCA2 mutation

Laki

Kirova

This

et al. 2007

Cancer

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“…Other studies of interest in genetic testing obtained interest ranging from 20% to 95% among women at risk of breast cancer while actual test uptake and returning for disclosure were considerably less. 17,23,30,[87][88][89][90][91][92] A recent systematic review of uptake rates for breast cancer genetic testing found a mean hypothetical uptake of 66% and mean actual uptake of 59%. 93 Stated interest has also been high with lower actual uptake for colon cancer, Huntington's disease, Alzheimer's disease and alcoholism.…”

Section: Discussionmentioning

confidence: 99%

Familial testicular cancer: Interest in genetic testing among high-risk family members

Peters

Vadaparampil

Kramer

et al. 2006

Genetics in Medicine

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Purpose: This study is part of an ongoing National Cancer Institute multidisciplinary, etiologically-focused, crosssectional study of Familial Testicular Cancer (FTC). The current report targets interest in clinical genetic testing for susceptibility to FTC. Methods: Demographics, knowledge, health beliefs, and psychological and social factors were evaluated as covariates related to interest in genetic testing. Results: The majority (66%) of 229 participants (64 affected men, 66 unaffected men, and 99 women) from 47 multiple-case FTC families expressed interest in having a genetic test within 6 months, should such a test become available. Interest was similar among the three subgroups mentioned above. Worries about insurance discrimination based on genetic test results were associated with a significantly lower interest in testing. Alternatively, participants were more likely to be interested in genetic testing if they were younger and had higher levels of family support, a physician's recommendation supporting testing, cancer distress, and a need for information to inform the health care of their children.

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“…Although BRCA1 and BRCA2 mutation carriers' cancer risks are increased [2,3], evidence suggests that these risks can be managed effectively [4][5][6][7]. While ovarian screening in high-risk groups is not effective, breast cancer screening is indicated and there is evidence of increased sensitivity of magnetic resonance imaging (MRI) for detecting malignancies in younger BRCA carriers [8,9], compared to mammography.…”

Section: Introductionmentioning

confidence: 99%

Looking different, feeling different: women’s reactions to risk-reducing breast and ovarian surgery

et al. 2011

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Objectives Most studies of quality of life following risk-reducing bilateral salpingo -oophorectomy (RRSO) and mastectomy (RRM) for inherited breast and ovarian cancer susceptibility were conducted before counseling protocols were established and included women at varying times since surgery. This study aimed to overcome these deficiencies and to provide current data on outcomes for this growing group of women.Methods Semi-structured interviews were used to explore the experiences of an Australian cohort of 40 high-risk women three years after they underwent RRM and/or RRSO. Data were analyzed using the method of constant comparison.Results Nineteen women underwent RRSO, 8 RRM and 13 both procedures. Two themes -looking different and feeling different -captured the psychosocial impact of surgery upon interviewees. All were relieved at having the risk of cancer substantially reduced that had previously been embodied in their breasts and ovaries; however, reducing risk by removing these body parts is not without costs. Interviewees reported experiencing a range of negative emotions and a range of unexpected bodily sensations following surgery and reflected upon both positive and negative changes in their appearance. Women said they had been unprepared for the lack of sensation in reconstructed breasts and/or the severity of menopausal symptoms, which often had a negative impact upon sexuality. ConclusionsAlthough women who undergo RR surgery are informed about its sequelae, however, few are entirely prepared for the reality of undergoing this procedure. We recommend that women who undergo these procedures should be provided with psychosocial support before and after RR surgery.

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Use of Genetic Testing and Prophylactic Mastectomy and Oophorectomy in Women With Breast or Ovarian Cancer From Families With a BRCA1 or BRCA2 Mutation

Abstract: In a clinical setting, we show a high demand for BRCA1/BRCA2 testing and for prophylactic surgery by women with breast and/or ovarian cancer from high-risk families.

Cited by 119 publications

References 33 publications

Prophylactic salpingo‐oophorectomy in a series of 89 women carrying a BRCA1 or a BRCA2 mutation

Prophylactic salpingo‐oophorectomy in a series of 89 women carrying a BRCA1 or a BRCA2 mutation

Familial testicular cancer: Interest in genetic testing among high-risk family members

Looking different, feeling different: women’s reactions to risk-reducing breast and ovarian surgery

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