The Genome
CMECNE

Consensus Guideline: Treatment Options for Hereditary Breast Cancer

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Learning Objectives and CME/Disclosure Information

SUMMARY: 

American Society of Clinical Oncology (ASCO), American Society for Radiation Oncology (ASTRO), and Society of Surgical Oncology (SSO) have published a guideline for management of individuals with hereditary breast cancer. The guideline was developed to standardize care among individuals carrying a pathogenic mutation, with a focus on BRCA1/2, PALB2, CHEK2, TP53 and ATM germline mutations. The guideline was created by a consensus panel of 52 members, and funded by ASCO.

Background

  • The majority of breast cancer is sporadic (no family history)
  • 15 to 20% of breast cancer is familial (clustering with significant family history, but no pathogenic mutation identified)
  • 5 to 10% of breast cancer is hereditary and associated with a germline mutation
  • High penetrance genes such as BRCA1/2 confer a lifetime breast cancer risk of 70%
  • Moderate penetrance genes confer a lower risk
    • PALB2: 35 to 60%
    • ATM and CHEK2: 25 to 30% mutations

Key Recommendations

Surgical treatment

  • Patients with newly diagnosed hereditary breast cancer can be offered breast-conserving therapy (BCT)
  • Patients who are BRCA1/2 carriers are at increased risk of contralateral breast cancer (CBC)
  • Discuss the option of bilateral mastectomy (with contralateral risk-reducing mastectomy (CRRM))
    • Consideration of family history, age at diagnosis, comorbidities, life expectancy and ability for the patient to undergo breast surveillance should be a part of this conversation
  • Patients who do not have bilateral mastectomy
    • Offer high-risk screening of the remaining breast tissue with annual mammogram and magnetic resonance imaging
  • For patients who request CRRM
    • Nipple-sparing mastectomy (NSM) is a reasonable approach
    • There is limited evidence for CRRM in patients with moderate-penetrance genes (PALB2, ATM, and CHEK2) | Additional factors can be considered such as age at diagnosis and family history
  • TP53 mutation carriers
    • Offer mastectomy because radiation therapy is contraindicated unless the risk of locoregional recurrence is high 

Medical Treatment

  • Advanced BRCA-associated breast cancer
    • Platinum agents are recommended versus taxanes
    • There are no data to address platinum efficacy in other germline mutations
  • Poly ADP-ribose polymerase (PARP) inhibitors
    • Recommended for metastatic HER2-negative BRCA-associated breast cancer as an alternative to chemotherapy for first- to third-line therapy
    • No evidence exists to support the use of PARP inhibitor in patients with moderate penetrance genes

Note: A recent publication in the NEJM supports the role for adjuvant olaparib, a PARP inhibitor, for the treatment of HER2-negative early breast cancer specifically for patients with germline BRCA1 or BRCA2 pathogenic or likely pathogenic variants

Learn More – Primary Sources

Management of Hereditary Breast Cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology Guideline

Adjuvant Olaparib for Patients with BRCA1- or BRCA2-Mutated Breast Cancer

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Related ObG Topics:

USPSTF Guidelines for Primary Care Clinicians: BRCA-Related Cancer Risk Assessment
Prophylactic Mastectomy and BRCA – Risk Reduction and Guidelines
BRCA1 & BRCA2 Mutations: What Are the Risks for Developing Breast and Ovarian Cancer?
Is Pregnancy After Breast Cancer Safe for Women with BRCA Mutations?
ACMG Statement on Genetic Testing for All Breast Cancer Patients
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