1999
DOI: 10.1200/jco.1999.17.10.3017
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BRCA1/BRCA2 Germline Mutations in Locally Recurrent Breast Cancer Patients After Lumpectomy and Radiation Therapy: Implications for Breast-Conserving Management in Patients With BRCA1/BRCA2 Mutations

Abstract: In this study, we found an elevated frequency of deleterious BRCA1/2 mutations in breast cancer patients treated with LRT who developed late IBTR. The relatively long time to IBTR, as well as the histologic and clinical criteria, suggests that these recurrent cancers actually represent new primary breast cancers. Early onset breast cancer patients experiencing IBTR have a disproportionately high frequency of deleterious BRCA1/2 mutations. This information may be helpful in guiding management in BRCA1 or BRCA2 … Show more

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Cited by 107 publications
(17 citation statements)
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“…Pathological risk factors for IBTR after BCS include close or positive surgical margins [1,3,12,16], presence of extensive intraductal component (EIC) in and/or around the tumor [1,[17][18], presence of lymphovascular invasion (LVI) with or without positive axillary lymph nodes [1,3,7,16,19], histological multifocality [7,16], high histopathological grade [16], negative hormonal receptor status [7], and c-erbB2 oncogene overexpression [20]. Clinical risk factors for IBTR include tumor size [16][17], young age [2][3][18][19], and gross multicentricity [9]; however, a strong family history of breast cancer has been associated with late IBTR and whether these are true recurrences or actually new tumors is controversial [21]. Skin involvement has been reported in 3% to 22% of breast recurrences in general [6,22].…”
Section: Abstract • Background : Inflammatory Local Recurrencementioning
confidence: 99%
“…Pathological risk factors for IBTR after BCS include close or positive surgical margins [1,3,12,16], presence of extensive intraductal component (EIC) in and/or around the tumor [1,[17][18], presence of lymphovascular invasion (LVI) with or without positive axillary lymph nodes [1,3,7,16,19], histological multifocality [7,16], high histopathological grade [16], negative hormonal receptor status [7], and c-erbB2 oncogene overexpression [20]. Clinical risk factors for IBTR include tumor size [16][17], young age [2][3][18][19], and gross multicentricity [9]; however, a strong family history of breast cancer has been associated with late IBTR and whether these are true recurrences or actually new tumors is controversial [21]. Skin involvement has been reported in 3% to 22% of breast recurrences in general [6,22].…”
Section: Abstract • Background : Inflammatory Local Recurrencementioning
confidence: 99%
“…Turner et al published one of the first reports of ipsilateral breast tumour recurrence in patients with BRCA1 and BRCA2 mutations [29]. Using a casecontrol design, the frequency of BRCA1 and BRCA2 mutations was studied in patients who developed an ipsilateral breast recurrence.…”
Section: Breast Conservation Therapy In Brca1 and Brca2 Carriersmentioning
confidence: 99%
“…One study has demonstrated an apparent increased risk of metachronous ipsilateral disease among mutation carriers surviving for a prolonged period after their initial breast cancer, apparently related to an increased risk of new primary lesions within the treated breast. 49,50 Studies with generally shorter follow-up, however, have not clearly identified a dramatically elevated risk when the influence of young age is taken into account. 28,51 The apparent contradiction may be resolved by a model wherein a breast lesion is as likely to be controlled by radiotherapy in women with BRCA mutations as in those without such mutations, but that the breast tissue of mutation carriers remains at risk for the development of new primary malignancies, which may not manifest until many years later.…”
Section: Cancer Risks In Individuals Withmentioning
confidence: 99%