Multigene Panel Sequencing Identifies a Novel Germline Mutation Profile in Male Breast Cancer Patients

Al Saati, Ayman; Vande Perre, Pierre; Plenecassagnes, Julien; Gilhodes, Julia; Monselet, Nils; Cabarrou, Bastien; Lignon, Norbert; Filleron, Thomas; Telly, Dominique; Perello-Lestrade, Emilie; Feillel, Viviane; Staub, Anne; Martinez, Mathilde; Chipoulet, Edith; Collet, Gaëlle; Thomas, Fabienne; Gladieff, Laurence; Toulas, Christine

doi:10.3390/ijms241814348

Cited by 1 publication

(1 citation statement)

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“…Based on the observation that PALB2 PV carriers were fourfold more likely to have a male relative with BC than non-carriers [86], several studies have investigated the presence of PALB2 PVs in MBC cases by candidate single-gene sequencing, and more recently by gene-panel sequencing approaches [25,[27][28][29]31,32,85,[87][88][89][90][91][92][93][94][95][96]. These studies showed a variable PALB2 PV frequency, ranging from about 0.8% to 1.8%, depending on the characteristics and the size of the population analyzed [25,27,29,31,32,93].…”

Section: Palb2mentioning

confidence: 99%

Gender-Specific Genetic Predisposition to Breast Cancer: BRCA Genes and Beyond

Valentini,

Bucalo,

Conti

et al. 2024

Cancers

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Among neoplastic diseases, breast cancer (BC) is one of the most influenced by gender. Despite common misconceptions associating BC as a women-only disease, BC can also occur in men. Additionally, transgender individuals may also experience BC. Genetic risk factors play a relevant role in BC predisposition, with important implications in precision prevention and treatment. The genetic architecture of BC susceptibility is similar in women and men, with high-, moderate-, and low-penetrance risk variants; however, some sex-specific features have emerged. Inherited high-penetrance pathogenic variants (PVs) in BRCA1 and BRCA2 genes are the strongest BC genetic risk factor. BRCA1 and BRCA2 PVs are more commonly associated with increased risk of female and male BC, respectively. Notably, BRCA-associated BCs are characterized by sex-specific pathologic features. Recently, next-generation sequencing technologies have helped to provide more insights on the role of moderate-penetrance BC risk variants, particularly in PALB2, CHEK2, and ATM genes, while international collaborative genome-wide association studies have contributed evidence on common low-penetrance BC risk variants, on their combined effect in polygenic models, and on their role as risk modulators in BRCA1/2 PV carriers. Overall, all these studies suggested that the genetic basis of male BC, although similar, may differ from female BC. Evaluating the genetic component of male BC as a distinct entity from female BC is the first step to improve both personalized risk assessment and therapeutic choices of patients of both sexes in order to reach gender equality in BC care. In this review, we summarize the latest research in the field of BC genetic predisposition with a particular focus on similarities and differences in male and female BC, and we also discuss the implications, challenges, and open issues that surround the establishment of a gender-oriented clinical management for BC.

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