Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan

Table 2 NCCN guidelines for referral criteria (NCCN 2016 version 1.2016), used in the study [35]

Diagnosed with breast cancer at	< 50 years of age
Diagnosed with breast cancer at age 46–50 years with	Unknown or limited family history
	A second breast cancer at any age
	≥1 close blood relative with breast, ovarian, pancreatic, or prostate cancer at any age
Diagnosed with breast cancer at age ≤ 60 years with	Triple-negative breast cancer
Diagnosed at any age with	≥1 close blood relative with breast cancer at age ≤ 50 year
	Ovarian, pancreatic, metastatic, intraductal/cribriform histology, or high- or very-high risk group prostate cancer at any age
	≥ 3 total diagnoses of breast cancer in patient and/or close blood relatives
	Male breast cancer
	With epithelial ovarian cancer (including fallopian tube cancer or peritoneal cancer)
	Exocrine pancreatic cancer

ISSN: 1897-4287