Lay Summary: Personal history of breast cancer at young age is an indication for BRCA testing.
Personal history of breast cancer at young age is an indication for BRCA testing. The literature variably sets the age of what is considered early at before age 50 or 40.
NCCN guidelines were revised to include the following changes from 2008 version(NCCN 2011):
•Changed age of diagnosis of personal history of breast cancer from 40 years or less to 45 years or less
•Add an indication for two breast primaries, when first breast cancer diagnosis occurred prior to age 50
•Women with triple negative disease under age 60 should have BRCA testing
Removed at least one close male blood relative with breast cancer and at least one close female blood relative breast or epithelial ovarian cancer from qualifying criteria for testing males with breast cancer
•Modified stated of family history to read “if no living family member with breast or ovarian cancer, consider testing family members affected with cancers thought to be related to BRCA1/BRCA2 such as prostate, pancreas or melanoma”.
The risk of baseline prevalence of BRCA mutations has been best established in the setting of family history. Personal history is less well attested to in guideline statements than family history but several guidelines do mention this factor. They include the ACS Guideline, NCCN, Hayes. Some guidelines, such as NICE and UPTFS, skirt this issue by deliberately noting that they do not address women with breast cancer at a young age. Nevertheless, BRCA screening is usually considered to be indicated in such cases. Other guidelines also would cover testing for this patient.
The Society of Breast Surgeons adds: “a personal or family history of ovarian cancer (particularly non-mucinous types)”. Hayes Genetic Testing Evaluation says: BRCA1 and BRCA 2: The decision to undergo genetic testing for BRCA1/2 variants may be most influenced by physician recommendation for testing and indecision about definitive surgical treatment. In addition, patients younger than 50 years of age at diagnosis and those having multiple primary tumors are more likely to undergo genetic testing for BRCA1/2 variants. However, the recommendation for testing triple negative patients is unique to NCCN at this time, according to my knowledge.
NCCN now includes patients with DCIS disease only, as it does not differentiate between invasive and non-invasive cancer.
NCCN, Screening for breast cancer, BRISK -1, BR-OV 2017
Trivers KF, Baldwin LM, Miller JW, et al. Reported referral for genetic counseling or BRCA 1/2 testing among United States physicians: a vignette-based study [published online ahead of print July 25, 2011]. Cancer. doi: 10.1002/cncr.26166
Robert A. Smith, PhD, Debbie Saslow, PhD, Kimberly Andrews Sawyer, Wylie Burke, MD, PhD (for the High-Risk Work Group), Mary E. Costanza, MD (for The Screening Older Women Work Group), W. Phil Evans, III, MD (for The Mammography Work Group), Roger S. Foster, Jr., MD (for The Physical Examination Work Group), Edward Hendrick, PhD (for the New Technologies Work Group), Harmon J. Eyre, MD and Steven Sener, MD (for The Breast Cancer Advisory Group)American Cancer Society Guidelines for Breast Cancer Screening: Update 2003 CA Cancer J Clin 2003; 53:141-169
J. Balmañaetet al, BRCA in breast cancer: ESMO Clinical Practice Guidelines
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