SCIENTIFIC BACKGROUND

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, SMARCA4, STK11, TP53

Category:

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.

GENES

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, SMARCA4, STK11, TP53
How to order

LATEST ARTICLES

Traditional DNA tests may overlook 10% of classic in Familial Adenomatous Polyposis (FAP) cases. By integrating RNA sequencing, researchers unveiled ...

Read more

Overview In January 2024, the American Society of Clinical Oncology (ASCO) and the Society of Surgical Oncology (SSO) published new recommendation...

Read more

Endometriosis is a chronic gynecological condition that affects 1 in 10 women of reproductive age worldwide [1]. It can manifest with the first menst...

Read more

Rare Disease Day is a global awareness day held annually to raise awareness of all rare diseases. It was first celebrated in 2008, on the rarest day ...

Read more

Cancer is a group of genetic diseases that can develop almost anywhere in the body. Many people in the world are affected by cancer every year. Follo...

Read more

Aiming to evaluate the role of chromosomal aneuploidy in pregnancy loss, a 2023 study 35 years in the making evaluated the genomic landscape of first...

Read more

Cancer is a complex genetic disease that affects millions of people in the world. It is one of the leading causes of death worldwide, with about ten ...

Read more

Researchers created a detailed map of the placenta during labor. By studying how maternal and fetal cells communicate, they discovered signals in the...

Read more

A recent paper published in Nature Medicine (1) aimed to identify genes and genomic biomarkers which can better predict outcomes and personalized the...

Read more

In honor of the international day of women and girls in science, we interviewed one of our very own, Dr. Evelina Papaioannou. Dr. Evelina Pa...

Read more