Hereditary Breast and Ovarian Cancer Syndrome

Autosomal dominant HEREDITARY CANCER SYNDROME in which a mutation most often in either BRCA1 or BRCA2 is associated with a significantly increased risk for breast and ovarian cancers.

Also Known As:

Networked: 36 relevant articles (1 outcomes, 3 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Pancreatic Neoplasms (Pancreatic Cancer)
2.	Ovarian Neoplasms (Ovarian Cancer)
3.	Breast Neoplasms (Breast Cancer)
4.	Lymphatic Metastasis
5.	Neoplasms (Cancer)

Experts

1.	Abu-Rustum, Nadeem R: 2 articles (07/2022 - 04/2012)
2.	Aruga, Tomoyuki: 2 articles (01/2022 - 07/2020)
3.	Honda, Yayoi: 2 articles (01/2022 - 07/2020)
4.	Inokuchi, Takuhiko: 2 articles (01/2022 - 07/2020)
5.	Ishiba, Toshiyuki: 2 articles (01/2022 - 07/2020)
6.	Iwamoto, Naoko: 2 articles (01/2022 - 07/2020)
7.	Saita, Chiaki: 2 articles (01/2022 - 07/2020)
8.	Yonekura, Rika: 2 articles (01/2022 - 07/2020)
9.	Hirasawa, Akira: 2 articles (10/2021 - 05/2013)
10.	Kitagawa, Yuko: 2 articles (10/2021 - 05/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hereditary Breast and Ovarian Cancer Syndrome:

1.	Poly(ADP-ribose) Polymerases (Poly ADP Ribose Polymerase)IBA 03/28/2021 - "Our increased understanding of tumour biology gained over the last few years has led to the development of targeted molecular therapies, e.g., vascular endothelial growth factor A (VEGF-A) antagonists, poly[ADP-ribose] polymerase 1 (PARP1) inhibitors in hereditary breast and ovarian cancer syndrome (BRCA1 and BRCA2 mutants), increasing survival and improving the quality of life. " 10/01/2021 - "Since poly-ADP-ribose polymerase (PARP) inhibitor has been shown to be effective in improving the prognosis of BRCA-positive pancreatic cancer as well as hereditary breast and ovarian cancer syndrome, PARP inhibitor therapy is currently being applied as precision medicine to pancreatic cancer patients harboring the BRCA1/2 germline variant. "
2.	Poly(ADP-ribose) Polymerase InhibitorsIBA 10/01/2021 - "Since poly-ADP-ribose polymerase (PARP) inhibitor has been shown to be effective in improving the prognosis of BRCA-positive pancreatic cancer as well as hereditary breast and ovarian cancer syndrome, PARP inhibitor therapy is currently being applied as precision medicine to pancreatic cancer patients harboring the BRCA1/2 germline variant. " 04/01/2018 - "This review summarized the molecular targeted drugs including immune checkpoint inhibitors with potential effects for hereditary cancer syndrome, such as anti-PD-1 antibody for Lynch syndrome, PARP inhibitor for hereditary breast and ovarian cancer syndrome, multi-kinase inhibitor for multiple endocrine neoplasia type 2."
3.	Estrogen ReceptorsIBA 01/01/2022 - "The study evaluated a patient cohort with early-stage estrogen receptor positive, HER2 negative invasive breast cancer who had Oncotype DX Breast Recurrence Score® analysis and genetic testing for hereditary breast and ovarian cancer syndrome. "
4.	DNA (Deoxyribonucleic Acid)IBA 06/01/1997 - "DNA testing of patients with HBOC syndrome must be performed in the context of genetic counseling. " 04/04/2023 - "Using targeted genomic sequencing, we screened for eight germline mutations: BRCA1 185delAG, BRCA1 T300G, BRCA1 2080delA, BRCA1 4153delA, BRCA1 5382insC, BRCA2 6174delT, CHEK2 1100delC, and BLM C1642T, which provoke the majority of cases of hereditary breast and ovary cancer syndrome (HBOC), in genomic (blood) DNA from 60 women with PMMNs, including breast (BC) and/or ovarian cancer(s) (OC). " 01/01/2020 - "Pathogenic DNA variants associated with familial hypercholesterolemia, hereditary breast and ovarian cancer syndrome, and Lynch syndrome are widely recognized as clinically important and actionable when identified, leading some clinicians to recommend population-wide genomic screening. " 01/01/2020 - "Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History."
5.	Biomarkers (Surrogate Marker)IBA 05/29/2020 - "BRCA1/2 variants are prognostic biomarkers for hereditary breast and/or ovarian cancer (HBOC) syndrome and predictive biomarkers for PARP inhibition. " 12/19/2017 - "We provide evidence of the existence of free methylated nucleotides capable of distinguishing plasma samples from HBOC patients as BRCA1-mutated and BRCA1 non-mutated, suggesting that they might be considered as BRCA1-like biomarkers for TNBC and HBOC syndrome."
6.	Prostaglandins DIBA 05/01/2014 - "How do couples with a BRCA1/2 mutation decide on preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND) for hereditary breast and ovarian cancer syndrome (HBOC)? " 02/01/2012 - "Individuals in specific risk groups such as those with a personal or family history of hereditary breast and ovarian cancer (HBOC) syndrome or familial adenomatous polyposis (FAP) may benefit from educational information from healthcare professionals about the use of PGD."
7.	A-Form DNA (A-DNA)IBA 08/01/2021 - "Hereditary breast and ovarian cancer syndrome (HBOC) and Lynch syndrome (LS), the most common inherited cancer syndromes, are attributed to a single heterozygous pathogenic variant (PV) in BRCA1/2 or in a DNA MMR gene, respectively. "
8.	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 12/01/2022 - "These include the following: (1) c.662A > G (p.Asp221Gly) in LDLR, causing heterozygous familial hypercholesterolemia; (2) c.3700_3704del in BRCA1, associated with hereditary breast and ovarian cancer syndrome; (3) c.1528G > C (p.Glu510Gln) in HADHA, seen in long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) deficiency, and (4) c.1032delT in NPHS2, associated with steroid-resistant nephrotic syndrome."
9.	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 03/28/2021 - "Our increased understanding of tumour biology gained over the last few years has led to the development of targeted molecular therapies, e.g., vascular endothelial growth factor A (VEGF-A) antagonists, poly[ADP-ribose] polymerase 1 (PARP1) inhibitors in hereditary breast and ovarian cancer syndrome (BRCA1 and BRCA2 mutants), increasing survival and improving the quality of life. "
10.	Complementary DNA (cDNA)IBA 01/01/2010 - "Complex RNA/cDNA analysis may constitute the solution and help to interpret the HBOC syndrome in the family. "

Therapies and Procedures

1.	Therapeutics 02/01/2017 - "In this review, we reevaluated the current evidence for surgical decision making and systemic therapies for HBOC syndrome." 07/01/2017 - "BRCA1 or BRCA2 (BRCA1/2) germline mutations, which cause hereditary breast and ovarian cancer syndrome, have been studied to develop targeted therapies for these associated cancer types. " 12/01/2014 - "In this review, we outline the presentation, molecular biology, and possible targeted therapies for two of the most widely recognized hereditary cancer syndromes -- hereditary breast and ovarian cancer syndrome and hereditary non-polyposis colorectal cancer syndrome (Lynch syndrome). " 12/01/2014 - "Targeted therapy for hereditary cancer syndromes: hereditary breast and ovarian cancer syndrome, Lynch syndrome, familial adenomatous polyposis, and Li-Fraumeni syndrome." 10/01/2021 - "Since poly-ADP-ribose polymerase (PARP) inhibitor has been shown to be effective in improving the prognosis of BRCA-positive pancreatic cancer as well as hereditary breast and ovarian cancer syndrome, PARP inhibitor therapy is currently being applied as precision medicine to pancreatic cancer patients harboring the BRCA1/2 germline variant. "
2.	Precision Medicine 10/01/2021 - "Since poly-ADP-ribose polymerase (PARP) inhibitor has been shown to be effective in improving the prognosis of BRCA-positive pancreatic cancer as well as hereditary breast and ovarian cancer syndrome, PARP inhibitor therapy is currently being applied as precision medicine to pancreatic cancer patients harboring the BRCA1/2 germline variant. "
3.	Mastectomy (Mammectomy) 09/01/2020 - "In the case of hereditary breast and ovarian cancer syndrome such as in this study, lesions may be discovered at an early stage by performing risk-reducing mastectomy." 09/01/2020 - "[In Situ Ductal Carcinoma with Hereditary Breast and Ovarian Cancer Syndrome in a Patient Who Received Contralateral Risk-Reducing Mastectomy-A Case Report]." 01/01/2021 - "Yet, very few young women with hereditary breast and ovarian cancer syndrome in Australia use tamoxifen, despite this being a less-invasive option compared to risk-reducing mastectomy. "
4.	Lymph Node Excision (Lymph Node Dissection) 12/16/2020 - "This study suggested that certain genetic factors related to the penetrance of hereditary breast and ovarian cancer syndrome altered the frequency of lymph node metastasis in BRCA1+ ovarian cancer, and family history may be useful to personalize the indication of lymphadenectomy."
5.	Ovariectomy (Oophorectomy) 09/01/2000 - "Sixty cases of women from HBOC syndrome families who had undergone prophylactic oophorectomies and whose BRCA1 and BRCA2 mutation status had been tested were selected from our database. " 11/01/2018 - "This Committee Opinion outlines the gynaecologic management recommendations for women diagnosed with hereditary breast and ovarian cancer syndrome (HBOC) with respect to screening, contraception, chemoprophylaxis, fertility considerations, risk-reducing surgery, and post-oophorectomy care. " 05/01/2005 - "From 72 HBOC syndrome families that carried either BRCA1 or BRCA2 cancer-associated mutations, 238 individuals who had undergone prophylactic oophorectomy were recorded in our registry between January 1985 and December 2002. " 05/01/2005 - "The Creighton University Hereditary Cancer Institute registry was searched for members of HBOC syndrome families who had undergone prophylactic oophorectomy. " 05/01/2005 - "The calculated cumulative risks of developing intra-abdominal carcinomatosis after prophylactic oophorectomy in members of HBOC syndrome families, specifically those who carry deleterious mutations, are well below the estimated risks of ovarian cancer published in the literature for similar patients. "