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Table 1 The characteristics of the BRCA1 gene in the 3 patients identified with BRCA1 LGRs

From: A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic rearrangements in familial breast cancer patients

Patient

Deleted exons (size)

Nomenclature

Mechanism

Age at diagnosis

Family history

Tumor stage

IHC

P1

Exons 11–13 (11,389 bp)

c.3416_4357 + 1863delins187

Alu/non-Alu NHE

35

BC+/OC-

0

ER-/PR-/Her2-

P2

Exons 13–15 (11,467 bp)

c.4186-1593_4676-1465del

Alu/Alu HR

35

BC+/OC+

IIa

ER+/PR+

P3

Whole gene

–

NA

36

BC+/OC-

IIa

ER-/PR+/Her2-

  1. Abbreviation: NHE, non-homologous event; HR, homologous recombination; NA, not available; BC, breast cancer; OC, ovarian cancer.
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BMC Cancer

ISSN: 1471-2407

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