Lecture

BRCA2 Mutations: Mechanisms and Implications

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In course

BIO-471: Cancer biology I

The course covers in detail molecular mechanisms of cancer development with emphasis on cell cycle control, genome stability, oncogenes, tumor suppressor genes, signaling pathways involved in cancer, genomic cancer analysis and rational cancer therapies. ...

Description

This lecture delves into the impact of BRCA2 mutations on DNA repair mechanisms and genomic stability. It explores the role of BRCA1 and BRCA2 in maintaining genomic integrity, the effects of BRCA2 deficiency on cell sensitivity to DNA damage, and the development of therapeutic strategies for BRCA mutant cancers. The lecture also discusses the clinical management of BRCA1 and BRCA2 mutation carriers, the mechanisms of resistance in BRCA-associated cancers, and the potential of PARP inhibitors in treating these cancers.

Instructors (3)

Joachim Lingner

PhD at the Biocenter, University of Basel 1989-1992 (Supervisor: Walter Keller). Postdoc at the Howard Hughes Medical Institute, University of Colorado at Boulder 1993-1997 (Supervisor: Thomas Cech). Junior group leader at ISREC 1997-2001. Senior group leader at ISREC since 2002. Associate Professor at EPFL 2005-2008. Full Professor at EPFL since 2009. Honors: START-fellowship from the Swiss National Science Foundation in 1997; Friedrich Miescher Prize from the Swiss Society of Biochemistry in 2002; EMBO member in 2005; ERC advanced investigator grant in 2008.

Viesturs Simanis

Viesturs Simanis was awarded a degree in Biochemistry from Imperial College London. He carried out his doctoral studies with David Lane at Imperial College, London University, and postdoctoral studies with Paul Nurse (London and Oxford). He has been a group leader at ISREC since 1988. In 2006 he was appointed Associate Professor at the EPFL School of Life Sciences

Elisa Oricchio

Expertise Cancer geneticsMouse modelsTherapyStem cellsLymphoma Teaching & PhD PhD Students Vamsi Krishna Polavarapu, Asli Ece Kasapoglu, Konstantina Georgakopoulou, Eleni Balli Past EPFL PhD Students Maria Christine Donaldson, Elena Battistello, Daniel Pereira Duarte, Frédérica Schyrr, Ruxandra-Andreea Lambuta, Aaron Simone Petruzzella, Jixing Zhong, Justine Epiney Courses Cancer biology I BIO-471 The course covers in detail molecular mechanisms of cancer development with emphasis on cell

Official source

Ontological neighbourhood

Biology

Cell biology: Cancer

Related concepts (21)

BRCA mutation

A BRCA mutation is a mutation in either of the BRCA1 and BRCA2 genes, which are tumour suppressor genes. Hundreds of different types of mutations in these genes have been identified, some of which have been determined to be harmful, while others have no proven impact. Harmful mutations in these genes may produce a hereditary breast–ovarian cancer syndrome in affected persons. Only 5–10% of breast cancer cases in women are attributed to BRCA1 and BRCA2 mutations (with BRCA1 mutations being slightly more common than BRCA2 mutations), but the impact on women with the gene mutation is more profound.

Treatment of cancer

Cancer can be treated by surgery, chemotherapy, radiation therapy, hormonal therapy, targeted therapy (including immunotherapy such as monoclonal antibody therapy) and synthetic lethality, most commonly as a series of separate treatments (e.g. chemotherapy before surgery). The choice of therapy depends upon the location and grade of the tumor and the stage of the disease, as well as the general state of the patient (performance status). Cancer genome sequencing helps in determining which cancer the patient exactly has for determining the best therapy for the cancer.

Nucleotide excision repair

Nucleotide excision repair is a DNA repair mechanism. DNA damage occurs constantly because of chemicals (e.g. intercalating agents), radiation and other mutagens. Three excision repair pathways exist to repair single stranded DNA damage: Nucleotide excision repair (NER), base excision repair (BER), and DNA mismatch repair (MMR). While the BER pathway can recognize specific non-bulky lesions in DNA, it can correct only damaged bases that are removed by specific glycosylases.

Base excision repair

Base excision repair (BER) is a cellular mechanism, studied in the fields of biochemistry and genetics, that repairs damaged DNA throughout the cell cycle. It is responsible primarily for removing small, non-helix-distorting base lesions from the genome. The related nucleotide excision repair pathway repairs bulky helix-distorting lesions. BER is important for removing damaged bases that could otherwise cause mutations by mispairing or lead to breaks in DNA during replication.

Germline mutation

A germline mutation, or germinal mutation, is any detectable variation within germ cells (cells that, when fully developed, become sperm and ova). Mutations in these cells are the only mutations that can be passed on to offspring, when either a mutated sperm or oocyte come together to form a zygote. After this fertilization event occurs, germ cells divide rapidly to produce all of the cells in the body, causing this mutation to be present in every somatic and germline cell in the offspring; this is also known as a constitutional mutation.

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