Scientific Background
The hereditary breast/gynecological cancer panel tests for germline mutations that can cause a collection of different cancers that include breast cancer as well as cancers that start in the woman’s reproductive organs such as cervical, ovarian, and uterine. Hereditary breast and specific types of gynecological cancers are considered some of the most common inherited types of cancer.
PreSENTIA hereditary Breast/Gynecological cancer panel tests for numerous germline mutations that could cause Breast, Ovarian or Endometrial cancers in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.
Who is this test for?
You should get tested if you meet at least one of the criteria below:
• You have a personal history of breast/gynecological cancers including ovarian, fallopian tube, and primary peritoneal cancer among others
• You have been diagnosed with a breast/gynecological cancer before the age of 50
• You have a family history of a breast/gynecological cancer
• You belong in specific ancestry groups who are high risk for developing breast/gynecological cancers (e.g Ashkenazi Jewish)
• You have a male relative diagnosed with breast cancer
How many genes are tested in this panel?
26 genes
How many hereditary cancer syndromes are associated with this panel?
12 Hereditary cancer syndromes are associated with this panel. These are:
• Ataxia-telangiectasia syndrome (ATM)
• Constitutional mismatch repair syndrome (EPCAM, MSH2, MSH6, MLH1, PMS2)
• DICER 1 syndrome (DICER1)
• Hereditary breast & ovarian cancer syndrome (BRCA1, BRCA2)
• Hereditary diffuse gastric syndrome (CDH1)
• Li-Fraumeni syndrome (TP53)
• Li-Fraumeni syndrome 2 (CHEK2)
• Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)
• MUTYH-associated polyposis syndrome (MUTYH)
• Peutz-Jeghers syndrome (STK11)
• Polymerase proofreading associated syndrome (POLD1, POLE)
• PTEN hamartoma syndrome (PTEN)
The following genes are not linked with a hereditary cancer syndrome but are associated with cancer risk, and are also analyzed by this panel:
BARD1, BRIP, MRE11, NBN, PALB2, RAD50, RAD51C, RAD51D, SMARCA4
Recommendations by professional bodies
Genetic testing is recommended when a family member has been previously diagnosed with a mutation in BRCA1/2 genes or any other related breast cancer genes
ESMO recommends (Cardoso et al., 2019) that genetic testing for germline BRCA1/2 mutations should be offered to breast cancer patients in high-risk groups. For example, patients with family history of breast, ovarian cancers, on patients who diagnosed with breast cancer before the age of 50, patients with personal history of ovarian cancer, breast cancer among others.
References and more information:
• All the above information was taken from ASCO, Centers for Disease Control and Prevention and NCCN
• Cardoso F, Kyriakides S, Ohno S, Penault-Llorca F, Poortmans P, Rubio IT, Zackrisson S, Senkus E; ESMO Guidelines Committee. Electronic address: clinicalguidelines@esmo.org. Early breast cancer: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up†. Ann Oncol. 2019 Aug 1;30(8):1194-1220. doi: 10.1093/annonc/mdz173. Erratum in: Ann Oncol. 2019 Oct 1;30(10):1674. Erratum in: Ann Oncol. 2021 Feb;32(2):284. PMID: 31161190.
