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Table 2 Pathogenic mutationsa identified by gene-panel testing in probands diagnosed before the age of 40 years in the population-based Australian Breast Cancer Family Registry

From: Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations?

Gene b HGVS_c c HGVS_pc Carriers
BRCA1 c.5266dupC p.Gln1756Profs 4
  c.5095C > T p.Arg1699Trp 1
  c.4689C > G p.Tyr1563Ter 1
  c.4327C > T p.Arg1443Ter 1
  c.4239del p.Glu1413Aspfs 1
  c.4065_4068delTCAA p.Asn1355Lysfs 2
  c.3756_3759delGTCT p.Ser1253Argfs 1
  c.3155delA p.Asn1052Metfs 1
  c.2681_2682delAA p.Lys894Thrfs 2
  c.2475delC p.Asp825Glufs 1
  c.1687C > T p.Gln563Ter 1
  c.427G > T p.Glu143Ter 1
  c.68_69delAG p.Glu23Valfs 1e
BRCA2 c.250C > T p.Gln84Ter 1
  c.755_758delACAG p.Asp252Valfs 2
  c.3847_3848delGT p.Val1283Lysfs 1
  c.5576_5579delTTAA p.Ile1859Lysfs 1
  c.5946delT p.Ser1982Argfs 3
  c.6275_6276delTT p.Leu2092Profs 2
  c.8575delC p.Gln2859Lysfs 3e
  c.8878C > T p.Gln2960Ter 1
  c.8904delC p.Val2969Cysfs 1
ATM c.7271 T > G p.Val2424Glu 1 d
  1. aMutation in BRCA1 and BRCA2 that are classified as pathogenic by the expert panel ENIGMA, PALB2:p.Trp1038* or ATM:p.Val2424Glu
  2. bTranscript sequences are BRCA1: NM_007294.3; BRCA2: NM_00059.3; ATM:NM_000051
  3. cVariant nomenclature according to the Human Genome Variation Society (HGVS), HGVS_c for coding DNA and HGVS_p for protein variants
  4. dData from Chenevix-Trench et al., [10]
  5. eOne woman carried these two mutations