Elevated frequency of germline BRCA1/BRCA2 gene mutations in locally recurrent breast cancer patients following lumpectomy and radiation therapy: Implications for breast conserving management in affected patients

Turner, Bruce; Harrold, Emily; Gumbs, Andrew A.; Matloff, Ellen; Ward, B.E.; Thomas, Anne; Glazer, Peter M.; Haffty, Bruce G.

doi:10.1016/s0360-3016(98)80210-1

Cited by 20 publications

(28 citation statements)

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“…7,11,12 However, to our knowledge, most studies to date have described relatively small numbers of mutation carriers, with limited follow-up, and two reports from one group have sounded a more cautionary note. In one study by Turner et al, 13 52 patients who developed an ipsilateral tumor recurrence at a median of 4.75 years after BCT were matched to controls who had not developed a disease recurrence. BRCA mutations were signifi- In a later report from the same group, 127 women with conservatively treated early-onset breast carcinoma underwent genetic testing at a median of 12.7 years after their diagnosis.…”

Section: Discussionmentioning

confidence: 99%

“…14 Among the 22 mutation carriers identified in this study, the actuarial risk of developing an ipsilateral tumor of the breast at 12 years was 49%, although only 6 breasts were at risk at this time point, which may limit the robustness of the estimate. Nonetheless, both of these studies 13,14 suggest that women with BRCA mutations may be at a significant risk for the development of ipsilateral second primary malignancies after BCT. The magnitude of the risk may be exaggerated by the designs of these studies, because women underwent testing after surviving for a prolonged period of time after their initial diagnosis, and thus after being at risk for an extended period.…”

Section: Discussionmentioning

confidence: 99%

“…[13][14][15][16] These conflicting data are a source of confusion for women with BRCA mutations and a recently diagnosed breast tumor who are choosing between the dramatically different alternatives of BCT (lumpectomy and radiation) and bilateral mastectomy. A prospective randomized trial would be optimal to determine the relative appropriateness of these strategies.…”

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confidence: 99%

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Appropriateness of breast‐conserving treatment of breast carcinoma in women with germline mutations in BRCA1 or BRCA2

Robson

Svahn

McCormick

et al. 2004

Cancer

120

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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Appropriateness of breast‐conserving treatment of breast carcinoma in women with germline mutations in BRCA1 or BRCA2

Robson

Svahn

McCormick

et al. 2004

Cancer

120

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“…Verhoog et al (1998Verhoog et al ( , 1999 reported that in a five-year follow-up, the rates of contralateral BC in BRCA1 or BRCA2 mutation carriers were 19% and 12% respectively, compared with rates of 5% and 2% respectively in age-matched non-carriers. Mutation carriers also have an increased risk of ipsilateral recurrence (Turner et al, 1999;Haffy et al, 2002).…”

Section: Increased Risk Associated With Brca1 and Brca2 Mutationsmentioning

confidence: 99%

“…However, its efficacy for women with hereditary BC is still debated. Some reports show that 5-year risks of ipsilateral recurrence are similar to those experienced by non-carriers (Foulkes et al, 1997;Pierce et al, 2003;Robson et al, 2004), while others report an increased risk (Turner et al, 1999;Haffy et al, 2002). This suspected excess risk, as well as the confirmed high risk of contralateral recurrence, has led many patients strongly to consider bilateral mastectomy (BM) at the time of diagnosis.…”

Section: Treatment For Affected Carriers: Bcs Versus Bilateral Mastecmentioning

confidence: 99%

The genetics of breast and ovarian cancer IV: a model of breast cancer progression

Lu¹,

Macdonald

Waters

2010

Scandinavian Actuarial Journal

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Gui et al. (2006), in Part III of a series of papers, proposed a dynamic family history model of breast cancer (BC) and ovarian cancer (OC) in which the development of a family history was represented explicitly as a transition between states, and then applied this model to life insurance and critical illness insurance. In this study, we extend the model to income protection insurance (IPI). In this paper, Part IV of the series, we construct and parameterise a semi-Markov model for the life history of a woman with BC, in which events such as diagnosis, treatment, recovery and recurrence are incorporated. In Part V, we then show: (a) estimates of premium ratings depending on genotype or family history; and (b) the impact of adverse selection under various moratoria on the use of genetic information.keywords Breast

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Effect of Genetic Cancer Risk Assessment on Surgical Decisions at Breast Cancer Diagnosis

Weitzel

McCaffrey²,

Nedelcu³

et al. 2003

Arch Surg

146

121

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Hypothesis: Breast cancer gene (BRCA) mutation status affects patients' surgical decisions when genetic cancer risk assessment is offered at the time of breast cancer diagnosis, prior to definitive treatment. Patients and Interventions:Outcomes following genetic cancer risk assessment were studied for women newly diagnosed as having breast cancer who were prospectively enrolled in an institutional review boardapproved hereditary cancer registry during a 1-year sampling frame. BRCA gene analysis was offered to subjects with a calculated mutation probability of 10% or higher. Review of medical records and telephone survey were used to document surgical treatment decisions following genetic cancer risk assessment.Results: Thirty-seven of 233 women in the registry were enrolled at the time of a breast cancer diagnosis. The interval from diagnosis to genetic cancer risk assessment ranged from 3 to 60 days. The mean calculated probabil-ity of a BRCA gene mutation was 21% across the cohort. Two women were not tested because of low prior probabilities of mutation detection, and 3 declined owing to intercurrent psychological stressors. Of the remaining 32 patients, no BRCA gene mutation was detected in 22 (69%), 3 (9%) were found to carry a variant of uncertain significance, and 7 (22%) had a deleterious mutation. All 7 subjects with a deleterious mutation opted for bilateral mastectomy, whereas 20 of 22 patients with negative test results chose stage-appropriate treatment (PϽ.001).Conclusions: Genetic cancer risk assessment at the time of breast cancer diagnosis significantly affected women's treatment decisions. Although need and feasibility are demonstrated, the logistics of genetic cancer risk assessment during breast cancer diagnosis prove challenging.

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Elevated frequency of germline BRCA1/BRCA2 gene mutations in locally recurrent breast cancer patients following lumpectomy and radiation therapy: Implications for breast conserving management in affected patients

Cited by 20 publications

References 0 publications

Appropriateness of breast‐conserving treatment of breast carcinoma in women with germline mutations in BRCA1 or BRCA2

Appropriateness of breast‐conserving treatment of breast carcinoma in women with germline mutations in BRCA1 or BRCA2

The genetics of breast and ovarian cancer IV: a model of breast cancer progression

Effect of Genetic Cancer Risk Assessment on Surgical Decisions at Breast Cancer Diagnosis

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