A case of a male BRCA2 mutation carrier with gastric adenocarcinoma with signet ring cells

José A Barbosa,Laura Elisabete Barbosa,Silvestre Carneiro,Vítor Devezas

doi:10.5348/101031z01vd2019cr

Abstract

Introduction: BRCA1 and BRCA2 are tumor suppressor genes with an autosomal dominant inheritance. Germline mutations of BRCA2 have more impact on men than on women. An increased risk of cancer of breast, prostate, pancreas, uveal melanoma, as well as gastric and esophageal cancer is associated with BRCA2 mutations.

Highlights

BRCA1 and BRCA2 are tumor suppressor genes with an autosomal dominant inheritance
Mutations of the BRCA1 type represent a concern among the women, while the BRCA2 type relates with an increased risk among men
He had a familial history of cancer (Figure 1): breast cancer in his mother and two sisters, a brother with nasopharynx cancer is 19 years old, two aunts and father diagnosed with gastric cancer at age 48 and breast cancer at 47-year-old, and two cousins with breast and gastric cancers

Summary

INTRODUCTION

Germline mutations of BRCA genes (BRCA1 and BRCA2) are major risk factors for breast and ovarian cancer in women [1]. A 43-year-old male patient was on a follow-up in the outpatient oncogenetics clinic because of a BRCA2 mutation carrier. His medical history included a lumbar surgical instrumentation 23 years ago, and the diagnosis of epilepsy and depression. He had a familial history of cancer (Figure 1): breast cancer in his mother and two sisters (both at 33-year-old and one of them an index case for diagnosis of BRCA2 gene mutation), a brother with nasopharynx cancer is 19 years old, two aunts and father diagnosed with gastric cancer at age 48 and breast cancer at 47-year-old, and two cousins with breast and gastric cancers. Family history of gastric cancer and the presence of adenocarcinoma with signet ring cells, we proceeded to the search for the E-cadherin mutation (CDH1) which was negative

DISCUSSION

Findings

CONCLUSION