Trial Outcomes & Findings for Breast Cancer Genome Guided Therapy Study (BEAUTY) (NCT NCT02022202)

NCT ID: NCT02022202

Last Updated: 2025-09-03

Results Overview

To obtain DNA from the germline and breast tumor for the identification of novel somatic changes within gene and gene pathways that are potentially "druggable" in men or women with breast cancer undergoing a standard neoadjuvant paclitaxel (with or without trastuzumab), followed by a standard anthracycline containing regimen (e.g. doxorubicin and cyclophosphamide) for breast cancer. We will report the median frequency and range of mutations observed for 30 mutated genes of interest.

Recruitment status

COMPLETED

Target enrollment

140 participants

Primary outcome timeframe

1 year 3 months

Results posted on

2025-09-03

Participant Flow

Participant milestones

Participant milestones
Measure	Individuals Aged 18 or Older With Stage I-III BC Who Plan to Undergo Neo-adjuvant Chemotherapy
Overall Study STARTED	132
Overall Study COMPLETED	124
Overall Study NOT COMPLETED	8

Reasons for withdrawal

Reasons for withdrawal
Measure	Individuals Aged 18 or Older With Stage I-III BC Who Plan to Undergo Neo-adjuvant Chemotherapy
Overall Study Withdrawal by Subject	2
Overall Study Disease Progression	3
Overall Study Desire go to immediately to surgery	3

Baseline Characteristics

Breast Cancer Genome Guided Therapy Study (BEAUTY)

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure	Individuals Aged 18 or Older With Stage I-III BC Who Plan to Undergo Neo-adjuvant Chemotherapy n=132 Participants
Age, Customized Age · <30	2 Participants n=5 Participants
Age, Customized Age · 30-39	21 Participants n=5 Participants
Age, Customized Age · 40-49	36 Participants n=5 Participants
Age, Customized Age · 50-59	40 Participants n=5 Participants
Age, Customized Age · 60-69	24 Participants n=5 Participants
Age, Customized Age · 70+	9 Participants n=5 Participants
Sex: Female, Male Female	132 Participants n=5 Participants
Sex: Female, Male Male	0 Participants n=5 Participants
Ethnicity (NIH/OMB) Hispanic or Latino	1 Participants n=5 Participants
Ethnicity (NIH/OMB) Not Hispanic or Latino	129 Participants n=5 Participants
Ethnicity (NIH/OMB) Unknown or Not Reported	2 Participants n=5 Participants
Region of Enrollment United States	132 participants n=5 Participants
Clinical T-stage T1	12 Participants n=5 Participants
Clinical T-stage T2	55 Participants n=5 Participants
Clinical T-stage T3	60 Participants n=5 Participants
Clinical T-stage T4	5 Participants n=5 Participants
Clinical N-stage N0	56 Participants n=5 Participants
Clinical N-stage N1	69 Participants n=5 Participants
Clinical N-stage N2	4 Participants n=5 Participants
Clinical N-stage N3	3 Participants n=5 Participants

PRIMARY outcome

Timeframe: 1 year 3 months

Population: Pre-NAC tumor and germline sequencing data were generated for 122 patients

Outcome measures

Outcome measures
Measure	Individuals Aged 18 or Older With Stage I-III BC Who Plan to Undergo Neo-adjuvant Chemotherapy (NAC) n=122 Participants Patients received12 weeks of weekly paclitaxel (with trastuzumab for human epidermal growth factor receptor 2-positive \[HER2+\] malignancies), followed by four cycles of an anthracycline-based regimen. Surgery was performed following completion of NAC, and residual cancer burden (RCB) scores were calculated.
DNA From the Germline and Breast Tumor for the Identification of Novel Somatic Changes Within Gene and Gene Pathways.	3 mutations Interval 1.0 to 30.0

PRIMARY outcome

Timeframe: 1 year 3 months

Population: Pre-NAC tumor and germline sequencing data were generated for 122 patients

To determine the number of patients with one or more known tumor mutations for which current drug therapies already exist (e.g. BRAF, C-KIT, EGFR mutation, KRAS, PTEN, PI3K).

Outcome measures

Outcome measures
Measure	Individuals Aged 18 or Older With Stage I-III BC Who Plan to Undergo Neo-adjuvant Chemotherapy (NAC) n=122 Participants Patients received12 weeks of weekly paclitaxel (with trastuzumab for human epidermal growth factor receptor 2-positive \[HER2+\] malignancies), followed by four cycles of an anthracycline-based regimen. Surgery was performed following completion of NAC, and residual cancer burden (RCB) scores were calculated.
Frequency of Known Tumor Mutations for Which Current Drug Therapies Already Exist.	78 Participants

PRIMARY outcome

Timeframe: 1 year 3 months

Population: 113 patients had pre-NAC PDX engraftment

Using breast cancer tissue obtained prior to chemotherapy in all patients and following the completion of chemotherapy (in patients with residual tumors \> 2 cm or residual nodal disease), to develop tumor xenograft cell lines for mechanistic and functional studies to determine whether mutations identified are associated with the malignant phenotype and response to associated drugs which target the gene and/or pathways. The breast cancer relapse rate of patients that received pre-NAC PDX engraftment will be reported.

Outcome measures

Outcome measures
Measure	Individuals Aged 18 or Older With Stage I-III BC Who Plan to Undergo Neo-adjuvant Chemotherapy (NAC) n=113 Participants Patients received12 weeks of weekly paclitaxel (with trastuzumab for human epidermal growth factor receptor 2-positive \[HER2+\] malignancies), followed by four cycles of an anthracycline-based regimen. Surgery was performed following completion of NAC, and residual cancer burden (RCB) scores were calculated.
Association Between Breast Cancer Events and Patient-derived Xenografts (PDX) Engraftment	13.6 percentage of patients

PRIMARY outcome

Timeframe: 1 year 3 months

To determine whether somatic alterations identified above are associated with pathologic complete response (pCR) to therapy. The number of patients experiencing a pCR with one or more somatic alterations will be reported.

Outcome measures

Outcome measures
Measure	Individuals Aged 18 or Older With Stage I-III BC Who Plan to Undergo Neo-adjuvant Chemotherapy (NAC) n=132 Participants Patients received12 weeks of weekly paclitaxel (with trastuzumab for human epidermal growth factor receptor 2-positive \[HER2+\] malignancies), followed by four cycles of an anthracycline-based regimen. Surgery was performed following completion of NAC, and residual cancer burden (RCB) scores were calculated.
Somatic Alterations Identified Are Associated With Pathologic Complete Response to Therapy.	44 Participants

SECONDARY outcome

Timeframe: 1 year 3 months

Population: Only patients underwent both MRI and MBI after NAC

Assess the association between changes in 99mTc-sestamibi uptake and pathologic response following neoadjuvant chemotherapy (MCR participants only). Sensitivity, specificity, positive predictive value, and negative predictive value after NAC at MRI and MBI will be reported.

Outcome measures

Outcome measures
Measure	Individuals Aged 18 or Older With Stage I-III BC Who Plan to Undergo Neo-adjuvant Chemotherapy (NAC) n=90 Participants Patients received12 weeks of weekly paclitaxel (with trastuzumab for human epidermal growth factor receptor 2-positive \[HER2+\] malignancies), followed by four cycles of an anthracycline-based regimen. Surgery was performed following completion of NAC, and residual cancer burden (RCB) scores were calculated.
99mTc-sestamibi Uptake and Pathologic Response Following Neoadjuvant Chemotherapy. Sensitivity for MRI	69.4 percent
99mTc-sestamibi Uptake and Pathologic Response Following Neoadjuvant Chemotherapy. Positive predictive value for MRI	81.4 percent
99mTc-sestamibi Uptake and Pathologic Response Following Neoadjuvant Chemotherapy. Negative predictive value for MRI	71.4 percent
99mTc-sestamibi Uptake and Pathologic Response Following Neoadjuvant Chemotherapy. Sensitivity for MBI	58.9 percent
99mTc-sestamibi Uptake and Pathologic Response Following Neoadjuvant Chemotherapy. Positive predictive value for MBI	84.6 percent
99mTc-sestamibi Uptake and Pathologic Response Following Neoadjuvant Chemotherapy. Negative predictive- value for MBI	54.9 percent

Adverse Events

Individuals Aged 18 or Older With Stage I-III BC Who Plan to Undergo Neo-adjuvant Chemotherapy (NAC)

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Adverse event data not reported

Additional Information

Matthew P. Goetz MD and Judy C. Boughey MD

Mayo Clinic

Phone: 507-284-2511

Email: [email protected]

Results disclosure agreements

Principal investigator is a sponsor employee
Publication restrictions are in place