title: BRCA1 gene variant p.P142H associated with male breast cancer: a two-generation genealogic study and literature review.
abstract: Breast cancer occurs rarely in male patient. BRCA1 gene mutation seems to be related to male breast cancer, but its role is not clearly defined. We have identified in a male patient affected by breast cancer the BRCA1 gene variant p.P142H. We performed a literature research using the keywords "male breast cancer", "male breast cancer mutations" and "BRCA" and we reviewed the cases. We found ew other studies regarding BRCA1 variant p.P142H, about female subjects. At the moment, BRCA1 gene variant p.P142H is not certainly classified as neutral or deleterious. Genetic testing for BRCA1 and BRCA2 and PALB2 mutation gene has been performed on our patient. Segregation analysis for this p.P142H BRCA1 variant has been extended to the second generation of the family. Genetic tests revealed a clear inheritance regarding the BRCA1 gene p. P142H variant. Of the eight patients with this specific genetic mutation, four presented breast cancer (bilateral in one case), two female and two male. None of the subjects in the family without the BRCA1 gene variant p. P142H presented breast cancer or other BRCA1 gene mutation-related cancers. Our analysis suggests that the BRCA1 gene variant p.P142H mutation is related with male breast cancer. Starting from these data, it can be inferred that more studies on MBC and its relation with the BRCA1 gene mutation P142H variant must be undertaken to improve prognostic and therapeutic strategies.
authors.affiliation: Department of Surgical, Medical, Pathological, Molecular and Critic Area, University of Pisa, Via Paradisa 2, 56124, Pisa, Italy. c.spinelli@dc.med.unipi.it.
authors.forename: Claudio
authors.initials: C
authors.lastname: Spinelli
authors.affiliation: Department of Surgical, Medical, Pathological, Molecular and Critic Area, University of Pisa, Via Paradisa 2, 56124, Pisa, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Strambi
authors.affiliation: Department of Surgical, Medical, Pathological, Molecular and Critic Area, University of Pisa, Via Paradisa 2, 56124, Pisa, Italy.
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Piccini
authors.affiliation: Department of Surgical, Medical, Pathological, Molecular and Critic Area, University of Pisa, Via Paradisa 2, 56124, Pisa, Italy.
authors.forename: Leonardo
authors.initials: L
authors.lastname: Rossi
authors.affiliation: Science Foundation of Pisa, Pisa, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Aretini
authors.affiliation: Department of Oncology, Transplants and New Technologies in Medicine, University of Pisa, Pisa, Italy.
authors.forename: Adelaide
authors.initials: A
authors.lastname: Caligo
mesh_terms: D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D018567:Breast Neoplasms, Male / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D011379:Prognosis
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human
keywords: BRCA1 mutation; BRCA2 mutation; Male breast cancer