title: Frequent alterations of homologous recombination repair pathway in primary and chemotolerant breast carcinomas: clinical importance.
abstract: OBJECTIVE
  To understand the importance of homologous recombination repair pathway in development of breast carcinoma (BC), alterations of some key regulatory genes like BRCA1, BRCA2, FANCC and FANCD2 were analyzed in pretherapeutic/neoadjuvant chemotherapy (NACT)-treated BC samples.
  
  
  METHODS
  Alterations (deletion/methylation/expression) of the genes were analyzed in 118 pretherapeutic and 41 NACT-treated BC samples.
  
  
  RESULTS
  High deletion/methylation (29-68%) and 64-78% overall alterations of the genes were found in the samples. Concordance was evident between alteration and protein expression of the genes. Estrogen/progesterone receptor-negative tumors showed significantly high alterations even in NACT-treated samples having low CD44 and proliferating cell nuclear antigen expression. Pretherapeutic patients with alterations showed poor prognosis.
  
  
  CONCLUSIONS
  Alterations of homologous recombination repair pathway genes are needed for the development of BC.
authors.affiliation: Department of Oncogene Regulation, Chittaranjan National Cancer Institute, 37, SP Mukherjee Road, Kolkata, West Bengal 700026, India.
authors.forename: Hemantika
authors.initials: H
authors.lastname: Dasgupta
authors.affiliation: Department of Oncogene Regulation, Chittaranjan National Cancer Institute, 37, SP Mukherjee Road, Kolkata, West Bengal 700026, India.
authors.forename: Nupur
authors.initials: N
authors.lastname: Mukherjee
authors.affiliation: Department of Oncogene Regulation, Chittaranjan National Cancer Institute, 37, SP Mukherjee Road, Kolkata, West Bengal 700026, India.
authors.forename: Saimul
authors.initials: S
authors.lastname: Islam
authors.affiliation: Department of Oncogene Regulation, Chittaranjan National Cancer Institute, 37, SP Mukherjee Road, Kolkata, West Bengal 700026, India.
authors.forename: Rittwika
authors.initials: R
authors.lastname: Bhattacharya
authors.affiliation: Department of Surgical Oncology, Chittaranjan National Cancer Institute, Kolkata, West Bengal, India.
authors.forename: Neyaz
authors.initials: N
authors.lastname: Alam
authors.affiliation: Department of Pathology, North Bengal Medical College & Hospital, West Bengal, India.
authors.forename: Anup
authors.initials: A
authors.lastname: Roy
authors.affiliation: Saroj Gupta Cancer Center & Research Institute, MG Road, Thakurpukur, Kolkata, West Bengal, India.
authors.forename: Susanta
authors.initials: S
authors.lastname: Roychoudhury
authors.affiliation: Department of Surgical Oncology, Chittaranjan National Cancer Institute, Kolkata, West Bengal, India.
authors.forename: Jaydip
authors.initials: J
authors.lastname: Biswas
authors.affiliation: Department of Oncogene Regulation, Chittaranjan National Cancer Institute, 37, SP Mukherjee Road, Kolkata, West Bengal 700026, India.
authors.forename: Chinmay Kumar
authors.initials: CK
authors.lastname: Panda
mesh_terms: D000970:Antineoplastic Agents / Q000494:pharmacology / Q000627:therapeutic use; D014408:Biomarkers, Tumor; D001943:Breast Neoplasms / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D045744:Cell Line, Tumor; D019175:DNA Methylation; D019008:Drug Resistance, Neoplasm / Q000235:genetics*; D005260:Female; D059765:Homologous Recombination; D006801:Humans; D007150:Immunohistochemistry; D009361:Neoplasm Invasiveness; D009367:Neoplasm Staging; D011401:Promoter Regions, Genetic; D059767:Recombinational DNA Repair; D017384:Sequence Deletion; D015398:Signal Transduction
chemical_list: D000970:Antineoplastic Agents; D014408:Biomarkers, Tumor
keywords: HRR pathway; breast carcinoma; neoadjuvant chemotherapy