PMID- 32328861
OWN - NLM
STAT- MEDLINE
DCOM- 20210524
LR  - 20210524
IS  - 1573-7292 (Electronic)
IS  - 1389-9600 (Linking)
VI  - 19
IP  - 4
DP  - 2020 Oct
TI  - Primary fallopian tube carcinoma (PFTC) in a BRIP-1 mutation carrier: the first 
      case report.
PG  - 291-295
LID - 10.1007/s10689-020-00179-0 [doi]
AB  - Some hereditary ovarian cancer cases can be associated with a mutation of a gene 
      involved in the DNA double-strand break repair system other than BRCA, such as 
      BRIP1. This mutation is an emerging indication for prophylactic risk-reducing 
      salpingo-oophorectomy (RRSO): however, anomalous tubal pathologic lesions have 
      not yet been reported during RRSO performed for this specific indication (BRIP1), 
      as largely reported for BRCA mutation carriers. An asymptomatic 64-year-old woman 
      with a family history of ovarian and breast cancer agreed to undergo RRSO for a 
      pathogenic variant of the BRIP1 gene (heterozygous NM_032043.2: c.124delT, p. 
      Cys42Valfs) with normal BRCA genes. Histological examination showed the presence 
      of high-grade serous carcinoma of the fimbria of the right tube of a maximum 
      diameter of 0.4 cm (final FIGO stage IIB). The pathogenic mechanism that leads to 
      the development of high-grade serous ovarian/fallopian tube cancer in patients 
      with mutations of BRIP1 should be the same as for patients with mutations of 
      BRCA1 and 2. Our case confirms to consider BRIP1 mutation to be sufficient to 
      justify RRSO at 45-50 years old.
FAU - Grandi, Giovanni
AU  - Grandi G
AUID- ORCID: 0000-0002-3567-3278
AD  - Department of Medical and Surgical Sciences for Mother, Child and Adult, Azienda 
      Ospedaliero Universitaria Policlinico, University of Modena and Reggio Emilia, 
      Via del Pozzo 71, 41124, Modena, Italy. giovanni.grandi@unimore.it.
AD  - Azienda Ospedaliero- Universitaria Policlinico, Obstetrics and Gynaecology Unit, 
      University of Modena and Reggio Emilia, Via del Pozzo 71, 41124, Modena, Italy. 
      giovanni.grandi@unimore.it.
FAU - Caroli, Martina
AU  - Caroli M
AD  - Department of Medical and Surgical Sciences for Mother, Child and Adult, Azienda 
      Ospedaliero Universitaria Policlinico, University of Modena and Reggio Emilia, 
      Via del Pozzo 71, 41124, Modena, Italy.
FAU - Alboni, Carlo
AU  - Alboni C
AD  - Department of Medical and Surgical Sciences for Mother, Child and Adult, Azienda 
      Ospedaliero Universitaria Policlinico, University of Modena and Reggio Emilia, 
      Via del Pozzo 71, 41124, Modena, Italy.
FAU - Cortesi, Laura
AU  - Cortesi L
AD  - Department of Oncology, Haematology and Respiratory Disease, Azienda Ospedaliero- 
      Universitaria Policlinico, University of Modena and Reggio Emilia, Via del Pozzo 
      71, 41124, Modena, Italy.
FAU - Toss, Angela
AU  - Toss A
AD  - Department of Oncology, Haematology and Respiratory Disease, Azienda Ospedaliero- 
      Universitaria Policlinico, University of Modena and Reggio Emilia, Via del Pozzo 
      71, 41124, Modena, Italy.
FAU - Barbieri, Elena
AU  - Barbieri E
AD  - Department of Oncology, Haematology and Respiratory Disease, Azienda Ospedaliero- 
      Universitaria Policlinico, University of Modena and Reggio Emilia, Via del Pozzo 
      71, 41124, Modena, Italy.
FAU - Botticelli, Laura
AU  - Botticelli L
AD  - Department of Pathology, Azienda Ospedaliero-Universitaria Policlinico, 
      University of Modena and Reggio Emilia, Via del Pozzo 71, 41124, Modena, Italy.
FAU - Facchinetti, Fabio
AU  - Facchinetti F
AD  - Department of Medical and Surgical Sciences for Mother, Child and Adult, Azienda 
      Ospedaliero Universitaria Policlinico, University of Modena and Reggio Emilia, 
      Via del Pozzo 71, 41124, Modena, Italy.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20200424
PL  - Netherlands
TA  - Fam Cancer
JT  - Familial cancer
JID - 100898211
RN  - 0 (Fanconi Anemia Complementation Group Proteins)
RN  - EC 3.6.4.13 (BRIP1 protein, human)
RN  - EC 3.6.4.13 (RNA Helicases)
SB  - IM
MH  - Asymptomatic Diseases
MH  - Cystadenocarcinoma, Serous/*genetics/pathology/surgery
MH  - Fallopian Tube Neoplasms/*genetics/pathology/surgery
MH  - Fanconi Anemia Complementation Group Proteins/*genetics
MH  - Female
MH  - Genes, BRCA1
MH  - Genes, BRCA2
MH  - Heterozygote
MH  - Humans
MH  - Middle Aged
MH  - *Mutation
MH  - Neoplasm Grading
MH  - RNA Helicases/*genetics
MH  - Salpingo-oophorectomy
OTO - NOTNLM
OT  - BRCAness
OT  - BRIP1
OT  - Double-strand break repair
OT  - Hereditary ovarian cancer
OT  - Primary carcinoma of the fallopian tube
OT  - Risk-reducing salpingo-oophorectomy
EDAT- 2020/04/25 06:00
MHDA- 2021/05/25 06:00
CRDT- 2020/04/25 06:00
PHST- 2020/03/05 00:00 [received]
PHST- 2020/04/20 00:00 [accepted]
PHST- 2020/04/25 06:00 [pubmed]
PHST- 2021/05/25 06:00 [medline]
PHST- 2020/04/25 06:00 [entrez]
AID - 10.1007/s10689-020-00179-0 [pii]
AID - 10.1007/s10689-020-00179-0 [doi]
PST - ppublish
SO  - Fam Cancer. 2020 Oct;19(4):291-295. doi: 10.1007/s10689-020-00179-0. Epub 2020 
      Apr 24.