TY - JOUR
T1 - First description of a double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient
T2 - A case report
AU - Meynard, Guillaume
AU - Mansi, Laura
AU - Lebahar, Pierre
AU - Villanueva, Cristian
AU - Klajer, Elodie
AU - Calcagno, Fabien
AU - Vivalta, Adrian
AU - Chaix, Marie
AU - Collonge-Rame, Marie Agnès
AU - Populaire, Céline
AU - Algros, Marie Paule
AU - Colpart, Prudence
AU - Neidich, Julie
AU - Pivot, Xavier
AU - Curtit, Elsa
PY - 2017/3
Y1 - 2017/3
N2 - Hereditary breast and ovarian cancer syndrome is an autosomal dominant disease caused primarily by germline mutations in the BRCA1 or BRCA2 gene. Rare cases of double heterozygosity for BRCA1 and BRCA2 mutations have been reported quite exceptionally in non-Ashkenazi individuals. We describe the case of a woman who developed a bilateral breast cancer, discovered concomitantly, at 46 years old. Biopsies confirmed the presence of two breast cancers with distinct histology. BRCA analysis was tested due to a positive family history of breast cancer, and two pathogenic monoallelic mutations were detected, one in the BRCA1 gene and one in the BRCA2 gene. There is no known Ashkenazi Jewish ancestry. We report the first description of a never described double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient, with two distinct histology, and two distinct mutations.
AB - Hereditary breast and ovarian cancer syndrome is an autosomal dominant disease caused primarily by germline mutations in the BRCA1 or BRCA2 gene. Rare cases of double heterozygosity for BRCA1 and BRCA2 mutations have been reported quite exceptionally in non-Ashkenazi individuals. We describe the case of a woman who developed a bilateral breast cancer, discovered concomitantly, at 46 years old. Biopsies confirmed the presence of two breast cancers with distinct histology. BRCA analysis was tested due to a positive family history of breast cancer, and two pathogenic monoallelic mutations were detected, one in the BRCA1 gene and one in the BRCA2 gene. There is no known Ashkenazi Jewish ancestry. We report the first description of a never described double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient, with two distinct histology, and two distinct mutations.
KW - BRCA
KW - Breast cancer
KW - Hereditary breast and ovarian syndrome
UR - http://www.scopus.com/inward/record.url?scp=85013301656&partnerID=8YFLogxK
U2 - 10.3892/or.2017.5422
DO - 10.3892/or.2017.5422
M3 - Article
C2 - 28184945
AN - SCOPUS:85013301656
VL - 37
SP - 1573
EP - 1578
JO - Oncology Reports
JF - Oncology Reports
SN - 1021-335X
IS - 3
ER -