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Τρίτη 11 Ιουλίου 2017

Pathologic Findings in Breast, Fallopian Tube and Ovary Specimens in non-BRCA Hereditary Breast and/or Ovarian Cancer Syndromes: A Study of 18 Patients with Deleterious Germline Mutations in RAD51C, BARD1, BRIP1, PALB2, MUTYH or CHEK2

Germline BRCA mutations account for a significant proportion of genetic/familial risk of breast and ovarian cancer (GBOC) susceptibility, but a broader spectrum of GBOC susceptibility genes has emerged in recent years. Genotype to phenotype correlations are known for some established forms of GBOC, however whether such correlations exist for less common GBOC variants is unclear. We reviewed our institution's experience with non-BRCA GBOC, looking specifically for trends in pathologic and clinical features.

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